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1. Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients

Author

Walentyna Szirkowiec, Wioletta Krysa, Maria Rakowicz, Monika Nojszewska, Anna Lusakowska, Marta Rajkiewicz, Elzbieta Zdzienicka, Jacek Zaremba, Hubert Kwieciński, Anna Kamińska, Jolanta Kubalska, Anna Sulek, and Anna Kostera-Pruszczyk

Subjects
musculoskeletal diseases, Proband, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Microsatellite instability, medicine.disease, Myotonia, Polymerase Chain Reaction, Myotonic dystrophy, Pregnancy, Mutation, medicine, Dynamic mutation, Humans, Myotonic Dystrophy, Female, Surgery, Poland, Neurology (clinical), Allele, Trinucleotide repeat expansion, business, Gene, Alleles
Abstract

Introduction: Myotonic dystrophies (DMs) type 1 (DM1) and type 2 (DM2) are autosomal dominant, multisystem disorders, considered the most common dystrophies in adults. DM1 and DM2 are caused by dynamic mutations in the DMPK and CNBP genes, respectively. Methods: Molecular analyses were performed by PCR and the modified RP-PCR in patients, in their at-risk relatives and prenatal cases. Results: The analysis of Polish controls revealed the range of 5-31 CTG repeats for DM1 and 110-228 bp alleles for DM2. Among 318 confirmed probands - 196 (62%) were DM1 and 122 (38%) – DM2. Within DM1families, 10 subjects carried a low expanded CTG tract (< 100 repeats), which resulted in a full mutation in subsequent generations. Two related individuals had unstable alleles–188 bp and 196 bp without common interruptions. Conclusion: The relative frequencies of DM1/DM2 among Polish patients were 68% and 32%, respectively, with a relatively high proportion of DM2 mutations (1.6:1).

Published
2018

2. ALSUntangled: Introducing The Table of Evidence

Author

Hubert Kwieciński, Dan Moore, Gary L. Pattee, Edor Kabashi, Chafic Karam, James Caress, Ashok Verma, Brett M. Morrison, Mieko Ogino, George Sachs, Orla Hardiman, Bonnie Gerecke, Vivian E. Drory, Hiroshi Mitsumoto, Gleb Levitsky, Josep Gamez, James Heywood, Nazem Atassi, Michael D. Weiss, Jeffrey V. Rosenfeld, Colin Quinn, Kathy Mitchell, Robin Conwit, Steven Novella, Mark B. Bromberg, Lewis P. Rowland, Jerry M. Belsh, Michael J. Strong, Todd Levine, Jonathan D. Glass, Yunxia Wang, Carlayne E. Jackson, Jon Baker, Muddasir Quereshi, Melanie Leitner, David Saperstein, Carmel Armon, Leo McClusky, Jonathan Licht, Terry Heiman-Patterson, Dallas Forshew, Laurie Gutmann, Pamela Kittrell, Jonathan Goldstein, Khema Sharma, Alexander Sherman, Efrat Carmi, Tahseen Mozaffar, James A. Russell, Merit Cudkowicz, Meraida Polak, Lorne Zinman, Michael Benatar, Jim Wymer, Christina Fournier, Noah Lechtzin, Eric Valor, Mazen M. Dimachkie, Steve Kolb, Megan Grosso, Katherine Tindall, Gregory T. Carter, Stacy A. Rudnicki, Lyle Ostrow, Eric J. Sorenson, Jeffrey D. Rothstein, Robert Bowser, Bjorn Oskarsson, Rup Tandan, Catherine Lomen-Hoerth, Daniel MacGowan, Peter M Andersen, Kate Dalton, Daniel M. Pastula, Craig Oster, Paul Wicks, Richard Bedlack, Michael H. Rivner, Nicholas J. Maragakis, John Ravits, Erik P. Pioro, Christen Shoesmith, John T. Kissel, Tulio E. Bertorini, Jeremy M. Shefner, Paul E. Barkhaus, Kevin Boylan, Jeff Dietz, Ginna Gonzalez, Sith Sathornsumetee, Larry Phillips, Steven Nash, Robert G. Miller, Janice Robertson, and Lisa Kinsley

Subjects
PubMed, medicine.medical_specialty, Evidence-Based Medicine, Physical medicine and rehabilitation, Neurology, business.industry, Amyotrophic Lateral Sclerosis, Humans, Medicine, Table (landform), Neurology (clinical), business
Published
2014

3. The N-terminal pro-brain natriuretic peptide as a marker of mitoxantrone-induced cardiotoxicity in multiple sclerosis patients

Author

Hubert Kwieciński, Anna Kamińska, Beata Zakrzewska-Pniewska, Grzegorz Opolski, Aleksandra Podlecka-Piętowska, and Janusz Kochanowski

Subjects
Adult, Male, musculoskeletal diseases, medicine.medical_specialty, Multiple Sclerosis, Heart Diseases, medicine.drug_class, medicine.medical_treatment, Antineoplastic Agents, Ventricular Dysfunction, Left, Internal medicine, Natriuretic Peptide, Brain, medicine, Natriuretic peptide, Humans, cardiovascular diseases, Heart Failure, Mitoxantrone, Cardiotoxicity, Ejection fraction, Cumulative dose, business.industry, Multiple sclerosis, Middle Aged, medicine.disease, Peptide Fragments, Heart failure, Cardiology, Female, Surgery, Neurology (clinical), Cardiac monitoring, Cardiomyopathies, business, Biomarkers, medicine.drug
Abstract

Background and purpose Mitoxantrone (MTX) has been shown to reduce progression of disability and number of clinical exacerbations in patients with progressive multiple sclerosis (MS). Prolonged administration of MTX, however, is limited by the risk of cardiotoxicity. Cardiac monitoring in MTX-treated patients includes usually measurement of left ventricular ejection fraction (LVEF) by means of echocardiography. The N-terminal pro-brain natriuretic peptide (NT-proBNP) represents a novel diagnostic tool in the assessment of heart failure. This study was aimed to evaluate the usefulness of NT-proBNP for early detection of MTX-induced cardiotoxicity in MS patients. Materials and methods We measured the NT-proBNP plasma levels in 45 MS patients who completed 24-month MTX therapy and in 37 MS patients of control group. Results The median NT-proBNP plasma value was 15.12 pg/mL. In 12 MTX-treated patients (27%), NT-proBNP plasma values were elevated, though this subgroup of patients neither clinical showed evidence of myocardial damage nor had the LVEF value 10%. We did not observe correlations between the NT-proBNP levels and patient age, MS duration, relapses index, Extended Disability Status Scale (EDSS), MTX single dose and the total cumulative dose of MTX. In 8 patients (22%) from control group, NT-proBNP plasma levels were also elevated. Conclusions The results of our study confirm that MTX therapy is safe for carefully selected and closely monitored MS patients. We believe that serial evaluation of NT-proBNP levels (before, during and after MTX therapy) can identify MS patients at high risk for MTX-induced cardiotoxicity.

Published
2014

4. Mitochondrial encephalomyopathy: Towards diagnosis. A case report

Author

Biruta Kierdaszuk, Zygmunt Jamrozik, Magdalena Kaliszewska, Justyna Kubiszewska, Malgorzata Gawel, Ewa Bartnik, Katarzyna Tońska, Hubert Kwieciński, and Anna Kamińska

Subjects
Genetic Markers, Mitochondrial encephalomyopathy, Pathology, medicine.medical_specialty, Mitochondrial DNA, Biopsy, Mitochondrial disease, DNA Mutational Analysis, Molecular Sequence Data, Neural Conduction, Muscle disorder, DNA, Mitochondrial, Polymerase Chain Reaction, law.invention, Young Adult, Mitochondrial Encephalomyopathies, law, Molecular genetics, medicine, Humans, Muscle, Skeletal, Polymerase chain reaction, Neurologic Examination, Muscle biopsy, Base Sequence, medicine.diagnostic_test, Electromyography, business.industry, Electrodiagnosis, Electroencephalography, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Peripheral nervous system, Ataxia, Female, Surgery, Neurology (clinical), business
Abstract

Mitochondrial diseases may cause a wide range of central and peripheral nervous system disorders, as well as muscle disorders. The diagnostic workup routinely includes electrophysiological, morphological, neuroimaging and genetic studies. In some cases, the diagnosis may be ascertained only when mitochondrial DNA (mtDNA) examination in the muscle is performed. We report on a case of a 24-year-old woman, with a 7-year history of slowly progressive cerebellar syndrome and bilateral ptosis. Mitochondrial encephalomyopathy was suspected, based on the clinical picture and results of examinations, but the typical red ragged fibers were not found in the muscle biopsy. The results of molecular analysis of mtDNA showed a mtDNA deletion in the muscle and, on a level detectable only with polymerase chain reaction method, in blood leukocytes. This case emphasizes the important role of mtDNA studies in muscle in nonspecific multisystem mitochondrial disorders, even without clinical muscle involvement.

Published
2014

5. ALSUntangled No. 29: MitoQ

Author

Muddasir Quereshi, Bjorn Oskarsson, Peter M Andersen, Pamela Kittrell, Mark B. Bromberg, Gleb Levitsky, Richard Bedlack, Nicholas J. Maragakis, Leo McClusky, Michael J. Strong, Robin Conwit, Lewis P. Rowland, Efrat Carmi, Tahseen Mozaffar, Alexander Sherman, Mazen M. Dimachkie, Yunxia Wang, Megan Grosso, Brett M. Morrison, Carlayne E. Jackson, Eric J. Sorenson, Craig Oster, John Ravits, Meraida Polak, Orla Hardiman, Hubert Kwieciński, Terry Heiman-Patterson, Dallas Forshew, Christina Fournier, Jonathan Licht, Dan Moore, Carmel Armon, Gregory T. Carter, Gary L. Pattee, James Heywood, Katherine Tindall, Stacy A. Rudnicki, Edor Kabashi, Laurie Gutmann, Jonathan D. Glass, David Saperstein, Chafic Karam, Kevin Boylan, Daniel M. Pastula, Lorne Zinman, Lisa Kinsley, Eric Valor, Michael H. Rivner, Kathy Mitchell, Neta Zach, James A. Russell, Vivian E. Drory, Melanie Leitner, James Caress, Khema Sharma, Rup Tandan, Colin Quinn, Steven Novella, Ashok Verma, Larry Phillips, Catherine Lomen-Hoerth, Daniel MacGowan, Jim Wymer, Michael Benatar, Kate Dalton, Steve Kolb, Michael D. Weiss, Jeffrey V. Rosenfeld, Nazem Atassi, Robert Bowser, Jon Baker, Merit Cudkowicz, Noah Lechtzin, Jeffrey D. Rothstein, Paul Wicks, Steven Nash, Christen Shoesmith, John T. Kissel, Josep Gamez, Bonnie Gerecke, Hiroshi Mitsumoto, Janice Robertson, Paul E. Barkhaus, Ginna Gonzalez, Mieko Ogino, George Sachs, Todd Levine, Jonathan Goldstein, Jeremy M. Shefner, Tulio E. Bertorini, Robert G. Miller, Sith Sathornsumetee, Lyle Ostrow, Erik P. Pioro, and Jeff Dietz

Subjects
Pathology, medicine.medical_specialty, Ubiquinone, business.industry, Amyotrophic Lateral Sclerosis, Drug Evaluation, Preclinical, medicine.disease, Antioxidants, Disease Models, Animal, Oxidative Stress, Organophosphorus Compounds, Neurology, Animals, Humans, Medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business
Published
2015

6. Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up

Author

Hubert Kwieciński, Anna Kamińska, Jarosław Sławek, Agata Kodroń, Michał Schinwelski, Jarosław Dulski, Biruta Kierdaszuk, Ewa Bartnik, Emilia J. Sitek, and Katarzyna Tońska

Subjects
Adult, Male, Levetiracetam, Short Communication, Clinical Neurology, Encephalomyopathy, Mitochondrial diseases, Context (language use), Mitochondrial Encephalopathy with Lactic Acidosis and Strokelike episodes, medicine.disease_cause, Biochemistry, Cellular and Molecular Neuroscience, Mitochondrial Encephalomyopathies, medicine, Humans, Regulation of gene expression, Genetics, Mutation, biology, NADH dehydrogenase, De novo mutation, NADH Dehydrogenase, Phenotype, Gene Expression Regulation, biology.protein, Myoclonic Epilepsy with Ragged Red Fibres, Neurology (clinical), Follow-Up Studies, medicine.drug
Abstract

Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient’s clinical symptomatology in the context of a very rare 13042G>A de novo mutation and with an emphasis on changing phenotypic expression and pronounced, long-standing response to levetiracetam. Electronic supplementary material The online version of this article (doi:10.1007/s11011-014-9645-x) contains supplementary material, which is available to authorized users.

Published
2014

7. Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis

Author

Shoji Tsuji, Hubert Kwieciński, Kenichi Kaida, Magdalena Kuźma-Kozakiewicz, Jun Goto, Akihiro Kawata, Anna Lusakowska, Yuji Takahashi, Mariusz Berdyński, Cezary Zekanowski, Beata Kaźmierczak, and Mitsuya Morita

Subjects
Adult, Male, Pathology, medicine.medical_specialty, SOD1, Gene mutation, Biology, White People, Cohort Studies, Young Adult, Superoxide Dismutase-1, Asian People, medicine, Humans, Amyotrophic lateral sclerosis, Aged, Aged, 80 and over, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Haplotype, Middle Aged, medicine.disease, Neurology, Genetic marker, Mutation, Mutation (genetic algorithm), Microsatellite, Female, Poland, Neurology (clinical), Age of onset
Abstract

Cu/Zn superoxide dismutase (SOD1) gene mutations are the most frequently reported genetic causes of amyotrophic lateral sclerosis (ALS). The objective of the study was to describe a clinical phenotype and haplotype background of Polish and Japanese ALS patients harbouring the K3E SOD1 mutation. The K3E mutation was identified by direct sequencing, high resolution melting analysis or high-throughput microarray-based resequencing system. Microsatellite polymorphic markers flanking SOD1 were genotyped in members of six kindreds and two SALS patients. Results demonstrated that the K3E mutation was responsible for classic ALS. The median age of onset was 54 years. The clinical phenotype did not substantially differ between SALS and FALS cases of either ethnic origin, with some intrafamiliar variabilities. There was a limb onset in 92% of patients. In patients with bulbar syndrome, dysphagia predominated over dysarthria. Respiratory insufficiency was found in 61.1% of patients (19-84 months after the first symptoms onset). Median survival was 101 months with age of death ranging from 45 to 77 years. K3E was the most frequent SOD1 mutation among Polish FALS patients. It originated independently, on different haplotype background in the Polish and Japanese populations. In conclusion, recurrent K3E mutation results in a relatively slowly progressing limb onset ALS with classic phenotype.

Published
2013

8. ALS Untangled No. 20: The Deanna Protocol

Author

Muddasir Quereshi, Pamela Kittrell, Jonathan D. Glass, Efrat Carmi, David Saperstein, Lisa Kinsley, Mark B. Bromberg, Christina Fournier, James Heywood, Eric Valor, Leo McClusky, Rup Tandan, Lyle Ostrow, Eric J. Sorenson, Jim Wymer, Noah Lechtzin, Megan Grosso, Carmel Armon, Todd Levine, Paul E. Barkhaus, Laurie Gutmann, Nazem Atassi, Ginna Gonzalez, Mazen M. Dimachkie, Daniel M. Pastula, Steven Nash, Tahseen Mozaffar, James A. Russell, Robert G. Miller, Hubert Kwieciński, Dan Moore, Michael H. Rivner, Ashok Verma, Craig Oster, John Ravits, Steve Kolb, Jonathan Goldstein, Robert Bowser, Steven Novella, Gregory T. Carter, Michael Benatar, Tulio E. Bertorini, Larry Phillips, Yunxia Wang, Carlayne E. Jackson, Kathy Mitchell, Orla Hardiman, Janice Robertson, Sith Sathornsumetee, Jeffrey D. Rothstein, Melanie Leitner, Lewis P. Rowland, Vivian E. Drory, James B. Caress, Jeremy M. Shefner, Mieko Ogino, George Sachs, Alexander Sherman, Michael J. Strong, Catherine Lomen-Hoerth, Paul Wicks, Erik P. Pioro, Daniel MacGowan, Terry Heiman-Patterson, Kevin B. Boylan, Bjorn Oskarsson, Dallas Forshew, Jonathan Licht, Josep Gamez, Katherine Tindall, Kate Dalton, Gleb Levitsky, Richard Bedlack, Hiroshi Mitsumoto, Gary L. Pattee, Jeff Dietz, Stacy A. Rudnicki, Bonnie Gerecke, Edor Kabashi, Robin Conwit, Peter M Andersen, Nicholas J. Maragakis, Meraida Polak, Michael D. Weiss, Jeffrey V. Rosenfeld, Jon Baker, Christen Shoesmith, John T. Kissel, and Khema Sharma

Subjects
medicine.medical_specialty, business.industry, Amyotrophic Lateral Sclerosis, medicine.disease, Physical medicine and rehabilitation, Neurology, Dietary Supplements, Coconut Oil, Animals, Humans, Plant Oils, Medicine, Nutrition Therapy, Neurology (clinical), Amyotrophic lateral sclerosis, business, Protocol (object-oriented programming)
Published
2013

9. A case report of ‘variant’ biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options

Author

Arndt Rolfs, Agnieszka Ługowska, Hubert Kwieciński, Piotr Szczudlik, Barbara Czartoryska, Zygmunt Jamrozik, and Stefan Weiß

Subjects
Male, medicine.medical_specialty, 1-Deoxynojirimycin, Late onset, Disease, Biochemical phenotype, Young Adult, chemistry.chemical_compound, Internal medicine, Miglustat, medicine, Humans, Enzyme Inhibitors, Cholesterol, business.industry, Niemann-Pick Disease, Type C, Heterozygote advantage, Phenotype, Positive response, Endocrinology, chemistry, Immunology, Surgery, Neurology (clinical), business, medicine.drug, Lipoprotein
Abstract

Niemann-Pick disease type C is a rare hereditary disorder caused by mutation-disrupted metabolism of cholesterol and low-density lipoprotein (LDL). In most patients, symptoms begin in childhood with severe clinical progression. We present a patient with heterozygote mutations 3001A>G and 3019C>G with late onset of the disease and positive response to treatment with miglustat. Behaviour and educational problems in childhood were probably related to the disease diagnosed later.

Published
2013

10. NMR-based Metabonomics of Cerebrospinal Fluid Applied to Amyotrophic Lateral Sclerosis

Author

Zygmunt Jamrozik, Adam Liebert, Hubert Kwieciński, and Beata Toczylowska

Subjects
Pathology, medicine.medical_specialty, business.industry, Biomedical Engineering, Excitotoxicity, Nuclear magnetic resonance spectroscopy, medicine.disease, medicine.disease_cause, Cerebrospinal fluid, Metabolomics, Potential biomarkers, Medicine, Statistical analysis, Amyotrophic lateral sclerosis, business, Metabolic profile
Abstract

The aim of this study was applications of cerebrospinal fluid (CSF) NMR-based metabolic fingerprinting to amyotrophic lateral sclerosis (ALS) as possible early diagnostic tool. Two CSF sample categories were collected: 9 ALS patients and 13 age-matched control patients (without neurological disease). Metabolic profile of the CSF was determined by high resolution proton NMR spectroscopy. For statistical analysis magnitudes of 33 signals of the NMR spectrum were selected. Partial least square discriminant analysis (PLS-DA) and orthogonal PLS-DA (OPLS-DA) modeling were used to find potential biomarkers of the disease. Those analyses showed that it was possible to distinguish the ALS patients from the control ones on the basis of the CSF metabolic profile. Significantly higher levels of metabolites observed in the patients with ALS may represent the state of anaerobic metabolism and excitotoxicity.

Published
2013

11. ALSUntangled No. 16: Cannabis

Author

Daniel M. Pastula, Jim Wymer, Michael H. Rivner, Mazen M. Dimachkie, James A. Russell, Steve Kolb, Gary L. Pattee, Muddasir Quereshi, Kathy Mitchell, Noah Lechtzin, Pamela Kittrell, Leo McClusky, Larry Phillips, Melanie Leitner, Hubert Kwieciński, Nicholas Marigakis, Dan Moore, Robert Bowser, Janice Robertson, Yunxia Wang, Carlayne E. Jackson, Todd Levine, James Heywood, Steven Nash, Steven Novella, Carmel Armon, Tahseen Mozaffar, Eric J. Sorenson, Catherine Lomen-Hoerth, Tulio E. Bertorini, Orla Hardiman, Daniel MacGowan, Kate Dalton, Jeremy M. Shefner, Vivian E. Drory, Robert G. Miller, Terry Heiman-Patterson, Dallas Forshew, Megan Grosso, Jonathan Goldstein, John Ravits, Sith Sathornsumetee, George Sachs, Paul Wicks, Jonathan D. Glass, David Saperstein, James Caress, Josep Gamez, Jeffrey D. Rothstein, Hiroshi Mitsumoto, Erik P. Pioro, Jeff Dietz, Michael J. Strong, Lewis P. Rowland, Alexander Sherman, Michael Benatar, Jonathan Licht, Meraida Polak, Michael D. Weiss, Jon Baker, Lisa Kinsley, Katherine Tindall, Stacy A. Rudnicki, Kevin Boylan, Ashok Verma, Robin Conwit, Peter M Andersen, Christen Shoesmith, John T. Kissel, Khema Sharma, Nazem Atassi, Bjorn Oskarsson, Rup Tandan, Richard Bedlack, Ginna Gonzalez, and Bonnie Gerecke

Subjects
medicine.medical_specialty, biology, Cannabinoids, business.industry, Amyotrophic Lateral Sclerosis, Marijuana Smoking, General Medicine, biology.organism_classification, medicine.disease, Neurology, Humans, Immunologic Factors, Medicine, Neurology (clinical), Cannabis, Amyotrophic lateral sclerosis, business, Psychiatry
Published
2012

12. A single-fibre electromyography study of neuromuscular transmission in patients with cluster headache

Author

Izabela Domitrz, Anna Kostera-Pruszczyk, Malgorzata Gawel, Wojciech Domitrz, and Hubert Kwieciński

Subjects
Adult, Male, Aura, Migraine with Aura, Neuromuscular Junction, Neuromuscular transmission, Cluster Headache, Electromyography, Synaptic Transmission, Ion Channels, Channelopathy, Reaction Time, Humans, Medicine, Familial hemiplegic migraine, medicine.diagnostic_test, business.industry, Cluster headache, medicine.disease, Migraine with aura, Migraine, Anesthesia, Female, Surgery, Neurology (clinical), medicine.symptom, business
Abstract

Background and purpose Mutations of CACNA1A , which encodes a neuronal P/Q Ca 2+ channel, are present in patients with familial hemiplegic migraine, and possibly in other types of migraine as well. This calcium channel is also involved in neuromuscular transmission. In our previous study we confirmed that the single-fibre electromyography (SFEMG) method can demonstrate a neuromuscular transmission deficit in migraine with aura. The aim of our present study was to estimate the neurotransmitter dysfunction in cluster headache and to compare the results between patients with cluster headache and those with migraine with aura. Material and methods We selected 6 patients with cluster headache and 6 patients with migraine with typical aura. SFEMG of the voluntarily activated extensor digitorum communis muscle was performed. Results The SFEMG results were in the normal range in the cluster headache group and in the healthy controls. Slight neuromuscular transmission disturbances were present in patients with migraine with aura. Conclusions The abnormal neuromuscular transmission detectable by SFEMG may reflect a genetically determined dysfunction of the P/Q Ca 2+ channels in a group of migraineurs with aura. Conversely, absence of neuromuscular abnormalities in cluster headache patients could be explained by different aetiology not resulting in channelopathy. Single-fibre electromyography could be a helpful tool in clinically questionable cases in differentiating between cluster headache and migraine with aura.

Published
2012

13. Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

Author

Anna Łusakowska, François Salachas, Magdalena Kuźma-Kozakiewicz, Stefania Battistini, Paola Carrera, Cezary Zekanowski, Claudia Ricci, Hubert Kwieciński, Stéphanie Millecamps, Mariusz Berdyński, Justyna Kubiszewska, and Vincent Meininger

Subjects
Adult, Male, DNA Mutational Analysis, SOD1, Biology, Superoxide dismutase, Superoxide Dismutase-1, medicine, Humans, Point Mutation, Amyotrophic lateral sclerosis, Gene, Aged, Family Health, Genetics, Superoxide Dismutase, Point mutation, Amyotrophic Lateral Sclerosis, Haplotype, General Medicine, Middle Aged, medicine.disease, Pedigree, Phenotype, Neurology, Mutation (genetic algorithm), biology.protein, Female, France, Poland, Neurology (clinical), Founder effect
Abstract

Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12-23% of patients with a diagnosis of ALS. Here we describe a large ALS Polish family with a branch in France, carrying a G41S mutation in the SOD1, and characterized by an early onset of the disease and extremely short survival time. The mutation has been initially detected in Italian ALS families with common founder effect. However, in the Polish population the G41S mutation most probably originated from an independent mutation event, as indicated by haplotype analysis. Collected data support the hypothesis that a SOD1 mutation is not the sole factor determining the clinical ALS phenotype.

Published
2011

16. The analysis of selected neurotransmitter concentrations in serum of patients with Tourette syndrome

Author

Anna Kalbarczyk, Hubert Kwieciński, Anna Barańczyk-Kuźma, Marzena Gutowicz, and Piotr Janik

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, Tics, Glycine, Glutamic Acid, Severity of Illness Index, Tourette syndrome, gamma-Aminobutyric acid, Young Adult, chemistry.chemical_compound, Reference Values, Internal medicine, Severity of illness, medicine, Humans, Neurotransmitter, Chromatography, High Pressure Liquid, gamma-Aminobutyric Acid, Neurotransmitter Agents, business.industry, Case-control study, Glutamate receptor, Glutamic acid, Middle Aged, medicine.disease, Endocrinology, chemistry, Case-Control Studies, Female, Surgery, Neurology (clinical), business, Tourette Syndrome, medicine.drug
Abstract

Background and purpose Metabolic disturbances of excitatory and inhibitory neurotransmitters are implicated in pathogenesis of Tourette syndrome (TS). The aim of the study was to measure serum concentrations of glutamic acid, γ-aminobutyric acid (GABA) and glycine in TS patients and evaluate any correlation between neurotransmitter levels and age at onset, actual age, gender, tic severity, duration of the disease and concomitant psychiatric disorders. Material and methods Sixty-seven TS patients, aged 16–59, and 57 healthy controls, aged 19–37, were enrolled in the study. Information regarding medical history and physical investigation was collected using a short questionnaire. Sixty-seven percent of patients were medication-free at the time of examination and the rest had withheld treatment for 24 hours before. Blood samples were taken after a 12-hour fasting period. HPLC technique was used. Results The TS group had higher glutamic acid and lower GABA levels. Glycine concentrations were comparable. No differences regarding neurotransmitter concentrations between treated and non-treated patients were found. Patients with concomitant obsessive-compulsive disorder and severe tics had higher glutamate levels. Glutamate concentrations correlated positively with the number of comorbid psychiatric disorders and GABA concentrations correlated negatively with the number of behavioural problems in patients with comorbidities. There was no correlation between analysed neurochemicals and age, gender, age at onset or disease duration. Conclusions Imbalance between excitatory and inhibitory systems in the brains of TS patients may be reflected by glutamate and GABA serum level changes. Glutamate and GABA may be biomarkers of the disease and high concentration of glutamate may indicate more severe course of TS.

Published
2010

17. Erythropoietin concentration in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

Author

Irena Niebroj-Dobosz, Beata Sokołowska, Piotr Janik, and Hubert Kwieciński

Subjects
Adult, medicine.medical_specialty, Time Factors, Neurology, Enzyme-Linked Immunosorbent Assay, Severity of Illness Index, Neuroprotection, Cerebrospinal fluid, Downregulation and upregulation, Slow progression, hemic and lymphatic diseases, Internal medicine, medicine, Humans, In patient, Amyotrophic lateral sclerosis, Erythropoietin, Biological Psychiatry, Aged, business.industry, Amyotrophic Lateral Sclerosis, Age Factors, Middle Aged, medicine.disease, Surgery, Psychiatry and Mental health, Endocrinology, Disease Progression, Neurology (clinical), business, medicine.drug
Abstract

Erythropoietin (EPO) acts as a neuroprotective factor and is upregulated after neuronal injury. It has been reported that in cerebrospinal fluid (CSF) of amyotrophic lateral sclerosis (ALS) patients, the EPO concentration is decreased. In this study, EPO levels in serum and CSF of 30 patients with ALS and in 15 controls, using an ELISA technique, were estimated. EPO level in serum was decreased, especially in patients with bulbar onset ALS. A trend toward a progressive EPO decline with the duration of the disease in the mild + moderate ALS cases was observed. In severe cases, a tendency towards a positive correlation of EPO and duration of the disease was present. Serum EPO values were age related only in mild + moderate ALS in patients below 40 years of age. In CSF, the EPO levels were significantly decreased. Lower EPO values in the bulbar onset ALS when compared with the spinal onset ALS were present. The EPO decrease did not correlate with the severity and duration of the disease. Age relation of the EPO level only in the mild + moderate ALS cases more than 40 years was present. Lack of differences in EPO levels between patients with ALS of rapid and slow progression indicates that EPO concentration cannot be used as a prognostic factor. Nevertheless, the decreased serum and CSF EPO concentration and the known EPO neuroprotective action may indicate that EPO administration can be a new promising therapeutic approach in ALS.

Published
2009

18. MuSK-positive myasthenia gravis is rare in the Polish population

Author

Angela Vincent, Anna Kostera-Pruszczyk, B. Emeryk-Szajewska, M. H. Strugalska-Cynowska, M. Dutkiewicz, Hubert Kwieciński, and Anna Kamińska

Subjects
Immunosuppressive treatment, medicine.medical_specialty, biology, business.industry, medicine.medical_treatment, Bulbar involvement, Polish population, medicine.disease, Gastroenterology, Myasthenia gravis, Serology, Thymectomy, Neurology, Internal medicine, Immunology, medicine, biology.protein, Neurology (clinical), Antibody, business, Severe course
Abstract

Background and purpose: MuSK-positive myasthenia gravis (MG) is diagnosed in 0–48% of cases with generalized seronegative MG in different populations. The presence of anti-MuSK antibodies generally relates to a severe course and lack of response to thymectomy. We analyzed for the first time the serology and clinical characteristics of MuSK-positive MG in the Polish population. Methods: One hundred and fifty-one patients were tested for the presence of anti-AChR and anti-MuSK antibodies: 62 with seronegative MG, including 14 with ocular seronegative MG, 48 age-matched patients with seropositive MG and 41 controls. Results: All patients with seropositive MG and the disease controls were MuSK-negative. Anti-MuSK antibodies were detected only in four patients with seronegative MG (8.7% of generalized seronegative cases): three women and one man. All four had predominantly bulbar involvement, and underwent thymectomy, with no apparent benefit. All of them improved clinically after immunosuppressive treatment with remissions lasting up to 7 years. Conclusion: MuSK-positive MG is rare in Polish population accounting for only 8.7% of seronegative cases with generalized MG. This is consistent with emerging evidence for lower MuSK antibodies at more northerly latitudes.

Published
2008

19. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia

Author

Hubert Kwieciński, Anna Kamińska, Giles D. J. Watts, Zygmunt Jamrozik, David A. Drachman, Erin C. Fulchiero, Sarju G. Mehta, Dana Thomasova, Conrad C. Weihl, Virginia Kimonis, and Sheena Ramdeen

Subjects
Adult, Male, Models, Molecular, Pathology, medicine.medical_specialty, Cytoplasmic inclusion, Valosin-containing protein, DNA Mutational Analysis, Cell Cycle Proteins, Myositis, Inclusion Body, Degenerative disease, Valosin Containing Protein, Genetics, medicine, Humans, Myopathy, Genetics (clinical), Adenosine Triphosphatases, Muscle biopsy, Hereditary inclusion body myopathy, medicine.diagnostic_test, biology, business.industry, Middle Aged, Osteitis Deformans, medicine.disease, Pedigree, Multisystem proteinopathy, Mutation, biology.protein, Dementia, Female, medicine.symptom, business, Frontotemporal dementia
Abstract

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD, OMIM 167320) has recently been attributed to eight missense mutations in valosin-containing protein (VCP). We report novel VCP mutations N387H and L198W in six individuals from two families who presented with proximal muscle weakness at a mean age of diagnosis of 40 years, most losing the ability to walk within a few years of onset. Electromyographic studies in four individuals were suggestive of 'myopathic' changes, and neuropathic pattern was identified in one individual in family 1. Muscle biopsy in four individuals showed myopathic changes characterized by variable fiber size, two individuals showing rimmed vacuoles and IBM-type cytoplasmic inclusions in muscle fibers, and electron microscopy in one individual revealing abundant intranuclear inclusions. Frontotemporal dementia associated with characteristic behavioral changes including short-term memory loss, language difficulty, and antisocial behavior was observed in three individuals at a mean age of 47 years. Detailed brain pathology in one individual showed cortical degenerative changes, most severe in the temporal lobe and hippocampus. Abundant ubiquitin-positive tau-, alpha-synuclein-, polyglutamine repeat-negative neuronal intranuclear inclusions and only rare intracytoplasmic VCP positive inclusions were seen. These new mutations may cause structural changes in VCP and provide some insight into the functional effects of pathogenic mutations.

Published
2007

20. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia

Author

Georg Auburger, Y. Averyanov, Louis J. Ptáček, Jørgen E. Nielsen, Hubert Kwieciński, Enrico Bertini, Anthony E. Lang, Massimo Pandolfo, Serenella Servidei, P. Van Bogaert, Ying-Hui Fu, Mark Hallett, Andrzej Friedman, B. Sorenson, Hsien-Yang Lee, Michiko K. Bruno, and Katrina Gwinn-Hardy

Subjects
Adult, Genetic Markers, Male, medicine.medical_specialty, Pediatrics, Adolescent, Genotype, paroxysmal dyskinesia, Paroxysmal nonkinesigenic dyskinesia, DNA Mutational Analysis, Muscle Proteins, Penetrance, Gene mutation, Chorea, Caffeine, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, Child, Dystonia, Ethanol, business.industry, Paroxysmal dyskinesia, medicine.disease, Pedigree, Settore MED/26 - NEUROLOGIA, Endocrinology, PNKD, Dyskinesia, Child, Preschool, Mutation, Female, Neurology (clinical), medicine.symptom, Age of onset, business, Stress, Psychological
Abstract

Background: Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder characterized by episodic hyperkinetic movement attacks. We have recently identified mutations in the MR-1 gene causing familial PNKD. Methods: We reviewed the clinical features of 14 kindreds with familial dyskinesia that was not clearly induced by movement or during sleep. Of these 14 kindreds, 8 had MR-1 mutations and 6 did not. Results: Patients with PNKD with MR-1 mutations had their attack onset in youth (infancy and early childhood). Typical attacks consisted of a mixture of chorea and dystonia in the limbs, face, and trunk, and typical attack duration lasted from 10 minutes to 1 hour. Caffeine, alcohol, and emotional stress were prominent precipitants. Attacks had a favorable response to benzodiazepines, such as clonazepam and diazepam. Attacks in families without MR-1 mutations were more variable in their age at onset, precipitants, clinical features, and response to medications. Several were induced by persistent exercise. Conclusions: Paroxysmal nonkinesigenic dyskinesia (PNKD) should be strictly defined based on age at onset and ability to precipitate attacks with caffeine and alcohol. Patients with this clinical presentation (which is similar to the phenotype initially reported by Mount and Reback) are likely to harbor myofibrillogenesis regulator 1 ( MR-1 ) gene mutations. Other “PNKD-like” families exist, but atypical features suggests that these subjects are clinically distinct from PNKD and do not have MR-1 mutations. Some may represent paroxysmal exertional dyskinesia.

Published
2007

21. Creutzfeldt-Jakob disease with Alzheimer-type Aβ-reactive amyloid plaques

Author

Patrick O. Brown, P.P. Liberski, D. C. Gajdusek, J. Kowalski, Maria Barcikowska, and Hubert Kwieciński

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Histology, Amyloid, animal diseases, Encephalopathy, Disease, Creutzfeldt-Jakob Syndrome, Pathology and Forensic Medicine, Central nervous system disease, Fatal Outcome, Degenerative disease, Alzheimer Disease, mental disorders, medicine, Gerstmann-Straussler-Scheinker Disease, Humans, Senile plaques, Aged, Brain Chemistry, Amyloid beta-Peptides, business.industry, Amyloidosis, Brain, General Medicine, Middle Aged, medicine.disease, Immunohistochemistry, PrP 27-30 Protein, nervous system diseases, Case-Control Studies, Female, Alzheimer's disease, business
Abstract

Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome are classified as transmissible cerebral amyloidoses, in contrast to the non-transmissible amyloidoses of Alzheimer's disease type. While the aetiologies of Creutzfeldt-Jakob disease and Alzheimer's disease and the molecular composition of their amyloids are different, similar basic pathogenetic mechanisms operate in both diseases through synthesis and processing of amyloid precursor proteins, to produce an accumulation of amyloid deposits. We report here a case of Creutzfeldt-Jakob disease exhibiting numerous diffuse A beta immunoreactive plaques, thus presenting features of both Creutzfeldt-Jakob disease and Alzheimer's disease. The existence of such cases underlines the existence of a 'grey' area between the two types of amyloidoses.

Published
2007

22. Frequency of a tau genotype in amyotrophic lateral sclerosis

Author

Renshi Xu, Magdalena Kuzma, Johannes Prudlo, Florian Prechter, Hubert Kwieciński, Christoph Münch, Peter Linke, Thomas Meyer, and Albert C. Ludolph

Subjects
Male, Pathology, medicine.medical_specialty, Polymorphism, Genetic, Genotype, Amyotrophic Lateral Sclerosis, tau Proteins, Subgroup analysis, Biology, medicine.disease, Central nervous system disease, Degenerative disease, Gene Frequency, Neurology, Polymorphism (computer science), Immunology, medicine, Humans, Dementia, Female, Genetic Predisposition to Disease, Neurology (clinical), Amyotrophic lateral sclerosis, Gene
Abstract

We investigated the susceptibility of the dinucleotide polymorphism A0 in the tau gene to amyotrophic lateral sclerosis (ALS). In 416 unrelated patients with ALS and 242 control subjects the A0/A0 genotype was not associated with the pooled sample of ALS cases. Subgroup analysis revealed that in sporadic ALS the A0 polymorphism was significantly overrepresented. There was no association of the A0/A0 genotype with the age and site of disease onset or the presence of dementia. The studied tau genotype may contribute to the multifactorial genetic background of ALS.

Published
2005

23. Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis

Author

Maria Barcikowska, Hubert Kwieciński, Maria Styczyńska, R Samocka, Beata Pepłońska, Beata Zakrzewska-Pniewska, and A Podlecka

Subjects
Adult, Male, Apolipoprotein E, Pathology, medicine.medical_specialty, Multiple Sclerosis, Adolescent, Genotype, Apolipoprotein E2, Apolipoprotein E4, Central nervous system disease, 03 medical and health sciences, Apolipoproteins E, 0302 clinical medicine, Degenerative disease, Atrophy, Gene Frequency, medicine, Humans, 030212 general & internal medicine, Allele, Aged, Peroxidase, Family Health, Polymorphism, Genetic, biology, Multiple sclerosis, Brain, Middle Aged, medicine.disease, Neurology, Myeloperoxidase, biology.protein, Female, Neurology (clinical), 030217 neurology & neurosurgery
Abstract

The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. G enotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44.1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes’ polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE o4 allele was not related to the disease course or the ApoE o2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (PB- 0.05) and by a higher value of EDSS. A ccording to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.

Published
2004

24. Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy

Author

Aleksey Shatunov, Patrick Vicart, Lev G. Goldfarb, Marinos C. Dalakas, Montse Olivé, Isidro Ferrer, Ayush Dagvadorj, Anna Fidziańska, Monique Simon-Casteras, Hubert Kwieciński, Anna Kamińska, Bertrand Goudeau, and Sergei V. Strelkov

Subjects
Adult, Male, Models, Molecular, Molecular Sequence Data, Muscle Fibers, Skeletal, macromolecular substances, Biology, Transfection, medicine.disease_cause, Desmin, Cricetinae, Genetics, medicine, Animals, Humans, Intermediate Filament Protein, Myocyte, Amino Acid Sequence, Musculoskeletal Diseases, Muscle, Skeletal, Myopathy, Genetics (clinical), Sequence Deletion, Mutation, Sequence Homology, Amino Acid, Myocardium, Middle Aged, Molecular biology, Human genetics, Pedigree, Heptad repeat, Female, medicine.symptom, Cardiomyopathies
Abstract

Desmin ( DES) mutations have been recognized as a cause of desmin-related myopathy (OMIM 601419), or desminopathy, a disease characterized by progressive limb muscle weakness and accumulation of desmin-reactive granular aggregates in the myofibers. We have studied three families with skeletal or cardioskeletal myopathy caused by small in-frame deletions in the desmin gene. The newly identified in-frame deletions E359_S361del and N366del alter the heptad periodicity within a critical 2B coiled-coil segment. Structural analysis reveals that the E359_S361 deletion introduces a second stutter immediately downstream of the naturally occurring stutter, thus doubling the extent of the local coiled-coil unwinding. The N366del mutation converts the wild-type stutter into a different type of discontinuity, a stammer. A stammer, as opposed to a stutter, is expected to cause an extra overwinding of the coiled-coil. These mutations alter the coiled-coil geometry in specific ways leading to fatal damage to desmin filament assembly. Expression studies in two cell lines confirm the inability of desmin molecules with this changed architecture to polymerize into a functional filamentous network. This study provides insights into molecular pathogenetic mechanisms of desmin mutation-associated skeletal and cardioskeletal myopathy.

Published
2004

25. Serum IgM anti-GM1 ganglioside antibodies in lower motor neuron syndromes

Author

Hubert Kwieciński, Piotr Janik, and Irena Niebroj-Dobosz

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Autoimmunity, Enzyme-Linked Immunosorbent Assay, G(M1) Ganglioside, medicine.disease_cause, Immunoglobulin light chain, Lower motor neuron, Diagnosis, Differential, Immunoglobulin kappa-Chains, Immunoglobulin lambda-Chains, medicine, Humans, Motor Neuron Disease, Amyotrophic lateral sclerosis, Autoantibodies, Ganglioside, biology, business.industry, Amyotrophic Lateral Sclerosis, Neuromuscular Diseases, Middle Aged, medicine.disease, Titer, medicine.anatomical_structure, Immunoglobulin M, Neurology, Immunology, biology.protein, Female, Neurology (clinical), Antibody, business, Multifocal motor neuropathy
Abstract

Lower motor neuron syndromes (LMNS) are heterogenous conditions, which include patients with progressive lower motor neuron disease (LMND) and cases with the clinical phenotype of motor neuropathy (MN). The aim of this study was to estimate the IgM anti-GM1 ganglioside antibodies titer and the ratio of the light chains in order to define the presence of autoimmunity process in particular cases with LMNS. Twenty-eight patients were diagnosed with LMND and 15 patients were diagnosed with MN (10 patients with multifocal motor neuropathy with conduction block, five patients with MN without conduction block). Total of 103 patients with classical amyotrophic lateral sclerosis (ALS) and 50 healthy, age-matched persons were also tested. The IgM anti-GM1 ganglioside titer and the ratio of lambda/kappa light chains in serum were determined using the ELISA technique. High titer of IgM anti-GM1 antibodies were detected in serum of 46% LMND patients, 80% of MN patients, and 18% of the classical ALS cases. An elevated ratio of lambda/kappa light chains appeared in 18% of LMND patients, and in 67% of the MN cases. The lambda/kappa light chains ratio was normal in all ALS patients. The presence of elevated titer of IgM anti-GM1 ganglioside antibodies and the changed ratio of the light chains supports the presence of autoimmune process in LMNS and may provide clues for their management.

Published
2004

26. Neurology training around the world

Author

Kamakshi Lakshminarayan, Hubert Kwieciński, Konrad Rejdak, José M Lopes Lima, Juzar Hooker, Francesco Corea, Matthew Eccher, and Fabiana C Souza-Lima

Subjects
Medical education, medicine.medical_specialty, Biomedical Research, Neurology, Internship and Residency, Kenya, Training (civil), United States, Europe, Italy, Education, Medical, Graduate, Workforce, medicine, Health Resources, Humans, Poland, Neurology (clinical), Psychology, Brazil
Published
2003

27. Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutation

Author

Michał Schinwelski, Biruta Kierdaszuk, Emilia J. Sitek, Jarosław Sławek, Katarzyna Tońska, Hubert Kwieciński, Anna Kamińska, Ewa Bartnik, and Agata Kodroń

Subjects
Mitochondrial encephalomyopathy, medicine.medical_specialty, Pathology, Ataxia, medicine.diagnostic_test, business.industry, Encephalopathy, Neurological examination, General Medicine, Focal dystonia, medicine.disease, Pathology and Forensic Medicine, Surgery, Mitochondrial myopathy, Medicine, Myoclonic epilepsy, medicine.symptom, business, Myoclonus
Abstract

Mitochondrial DNA point mutations are associated with various syndromes, among which mitochondrial myopathy, encephalopathy, lactic acidosis and stroke (MELAS) and myoclonic epilepsy with ragged red fibres (MERRF) are the most common.1 Here we present a case report of a young man with a mitochondrial encephalomyopathy caused by a mutation in the ND5 gene (13042A>G), which has been described previously.1 A 21-year-old man presented with a 2-year history of recurrent generalised epileptic seizures and myoclonus with no family history. Neurological examination revealed discrete nystagmus and multifocal myoclonus in the upper limbs, ataxia and focal dystonia presenting as writer's cramp. Neuropsychological examination showed slight working memory impairment and slowed learning of both verbal and visual material. Follow-up examinations conducted 18 and 33 months later did not show evidence of progression of the deficits. The patient exhibited anosodiaphoria throughout the observation period. Laboratory studies showed a normal serum lactic acid level of 9.45 mg% with an abnormal lactic acid curve during ischaemic muscle exercise. Creatine kinase activity was within the normal range. A 50 min video EEG disclosed a pattern characteristic of myoclonic epilepsy. Visual evoked potentials showed delayed P100 responses. Electromyography and nerve conduction studies were within normal ranges. MRI showed hyperintensive lesions on T2 and FLAIR images in the right cerebral peduncle, close to the occipital horns of the lateral ventricles, in the left temporal lobe as well as …

Published
2012

28. ALSUntangled 15: Coconut Oil

Author

Meraida Polak, Daniel M. Pastula, Michael H. Rivner, James Heywood, James A. Russell, Todd Levine, Orla Hardiman, Steve Kolb, Kevin Boylan, Michael Benatar, Larry Phillips, Michael J. Strong, Steven Novella, Muddasir Quereshi, Vivian E. Drory, Jonathan Goldstein, Ginna Gonzalez, Jonathan Licht, Noah Lechtzin, Kathy Mitchell, Jim Wymer, Melanie Leitner, Pamela Kittrell, Peter M Andersen, Robert G. Miller, George Sachs, Terry Heiman-Patterson, Dallas Forshew, Lisa Kinsley, Paul Wicks, Robert Bowser, Nazem Atassi, Megan Grosso, Tahseen Mozaffar, Lewis P. Rowland, Michael D. Weiss, Hubert Kwieciński, Dan Moore, Alexander Sherman, Janice Robertson, Catherine Lomen-Hoerth, Jon Baker, Eric J. Sorenson, Daniel MacGowan, Kate Dalton, Bonnie Gerecke, Rup Tandan, Gary L. Pattee, James Caress, Katherine Tindall, Leo McClusky, Stacy A. Rudnicki, Carmel Armon, Khema Sharma, Christen Shoesmith, John T. Kissel, Hiroshi Mitsumoto, Ashok Verma, Nicholas Marigakis, Yunxia Wang, Robin Conwit, Carlayne E. Jackson, Jeremy M. Shefner, Bjorn Oskarsson, Richard Bedlack, Mazen M. Dimachkie, Erik P. Pioro, Jeff Dietz, Steven Nash, Jeffrey D. Rothstein, Josep Gamez, John Ravits, Tulio E. Bertorini, Sith Sathornsumetee, Jonathan D. Glass, and David Saperstein

Subjects
food.ingredient, business.industry, Amyotrophic Lateral Sclerosis, Coconut oil, General Medicine, medicine.disease, food, Neurology, Coconut Oil, medicine, Animals, Humans, Plant Oils, Neurology (clinical), Food science, Amyotrophic lateral sclerosis, business
Published
2012

29. Effect of Riluzole on serum amino acids in patients with amyotrophic lateral sclerosis

Author

Piotr Janik, Hubert Kwieciński, and Irena Niebroj-Dobosz

Subjects
chemistry.chemical_classification, medicine.medical_specialty, business.industry, Neurodegeneration, Antagonist, Glutamate receptor, General Medicine, Pharmacology, medicine.disease, Amino acid, Surgery, Riluzole, Central nervous system disease, Glutamatergic, Neurology, chemistry, medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business, medicine.drug
Abstract

Objectives There is evidence that an imbalance between glutamatergic and inhibitory neurotransmission may contribute to selective neurodegeneration in amyotrophic lateral sclerosis (ALS). The efficacy of Riluzole in prolonging the survival of patients with ALS has been demonstrated in two large controlled trials. It is believed that Riluzole is a glutamate antagonist, but the exact mode of its action is not known. Data on the effects of Riluzole treatment on excitotoxic amino acid levels in serum are not available, Material and methods - We prospectively studied 17 patients with ALS (diagnosed according to the El Escorial criteria), who received long-term treatment with Riluzole (100 mg/day). The subjects were evaluated at baseline (before treatment) and after 6, 12 and 18 months on drug. Assessments included the functional status of the patients and serum levels of amino acids. Analysis of the serum amino acids was performed using high performance liquid chromatography techniques at baseline, and after 6, 12 and 18 months of the treatment. Results - At baseline, glutamate, GABA and total amino acid concentration in serum of the ALS patients, mainly in those with severe course of the disease, were increased. During the first 6 months of Riluzole treatment there was a significant decrease of glutamate and total amino acids, afterwards the values returned to the initial high values, or even an 'overshooting' in their levels appeared. We did not observe a similar effect of Riluzole on glutamate and other amino acids in patients with less advanced ALS. Conclusions It is suggested that the positive clinical effect of Riluzole in ALS patients may he related, at least partly, to its influence on amino acid metabolism in neural tissues.

Published
2002

30. ALSUntangled No. 26: lunasin

Author

Jim Wymer, Christina Fournier, Robert Bowser, Lyle Ostrow, Paul E. Barkhaus, Ginna Gonzalez, Hubert Kwieciński, Dan Moore, Muddasir Quereshi, Catherine Lomen-Hoerth, Daniel MacGowan, Pamela Kittrell, Josep Gamez, Eric J. Sorenson, Kate Dalton, Todd Levine, Eric Valor, Ashok Verma, Tulio E. Bertorini, Mark B. Bromberg, Merit Cudkowicz, Noah Lechtzin, Michael J. Strong, Efrat Carmi, Mazen M. Dimachkie, Rup Tandan, Bjorn Oskarsson, Mieko Ogino, Tahseen Mozaffar, James A. Russell, George Sachs, Jonathan Goldstein, Hiroshi Mitsumoto, Steven Novella, Jonathan Licht, Terry Heiman-Patterson, Dallas Forshew, James Heywood, Richard Bedlack, James Caress, Sith Sathornsumetee, Steve Kolb, Kevin Boylan, Nazem Atassi, Yunxia Wang, Carlayne E. Jackson, Paul Wicks, Gary L. Pattee, Meraida Polak, Chafic Karam, Gleb Levitsky, Lorne Zinman, Craig Oster, Carmel Armon, Edor Kabashi, Robin Conwit, John Ravits, Laurie Gutmann, Janice Robertson, Erik P. Pioro, Brett M. Morrison, Orla Hardiman, Leo McClusky, Vivian E. Drory, Jeff Dietz, Colin Quinn, Jonathan D. Glass, Jeremy M. Shefner, Robert G. Miller, David Saperstein, Michael D. Weiss, Jeffrey V. Rosenfeld, Megan Grosso, Jon Baker, Gregory T. Carter, Kathy Mitchell, Melanie Leitner, Michael Benatar, Bonnie Gerecke, Lisa Kinsley, Khema Sharma, Steven Nash, Christen Shoesmith, John T. Kissel, Jeffrey D. Rothstein, Peter M Andersen, Nicholas J. Maragakis, Katherine Tindall, Stacy A. Rudnicki, Daniel M. Pastula, Michael H. Rivner, Larry Phillips, Lewis P. Rowland, and Alexander Sherman

Subjects
Adult, Male, Pathology, medicine.medical_specialty, business.industry, Amyotrophic Lateral Sclerosis, Anti-Inflammatory Agents, Middle Aged, medicine.disease, Neurology, medicine, Soybean Proteins, Humans, Female, Neurology (clinical), Amyotrophic lateral sclerosis, business, Aged, Phytotherapy, Plant Proteins
Published
2014

32. Paroxysmal Non-Kinesigenic Dyskinesia Caused by the Mutation of MR-1 in a Large Polish Kindred

Author

Izabela Domitrz, Hubert Kwieciński, Hsien-Yang Lee, Louis J. Ptáček, Andrzej Friedman, and Beata Zakrzewska-Pniewska

Subjects
Involuntary movement, Pediatrics, medicine.medical_specialty, business.industry, Parkinsonism, Paroxysmal dyskinesia, medicine.disease, PNKD, Neurology, Dyskinesia, Anesthesia, Coffee intake, Mutation (genetic algorithm), medicine, Neurology (clinical), medicine.symptom, business, Clinical syndrome
Abstract

Paroxysmal non-kinesigenic dyskinesia (PNKD) is a clinical syndrome of sudden involuntary movements, mostly of dystonic type, which may be triggered by alcohol or coffee intake, stress and fatigue. The attacks of PNKD may consist of various combinations of dystonia, chorea, athetosis and balism. They can be partial and unilateral, but mostly the hyperkinetic movements are bilateral and generalized. We present a large Polish family with 7 symptomatic members of the family in 6 generations. In all affected persons, the onset of clinical symptoms was in early childhood. All male cases showed an increase in severity and frequency of the attacks with ageing, while the only living female patient noticed an improvement of PNKD during both her pregnancies and also after menopause. In addition, at the age of 55 years, she developed symptoms of Parkinson’s disease with good response to levodopa treatment.

Published
2008

33. Powikłania Neurologiczne u Chorych na OBPS

Author

Beata Zakrzewska-Pniewska and Hubert Kwieciński

Subjects
Pulmonary and Respiratory Medicine
Abstract

W zespole obturacyjnego bezdechu podczas snu (OBPS) powtarzająca się hipoksemia wywiera niezwykle istotny wpływ na funkcje wielu narządów i układów [...]

Published
2007

34. [Psychotic symptoms and cognitive impairment in neurosarcoidosis. Case report and review of literature]

Author

Małgorzata, Gaweł, Izabela, Domitrz, Dorota, Dziewulska, Andrzej, Dabrowski, Witold, Przyjałkowski, Marek, Gołebiowski, and Hubert, Kwieciński

Subjects
Adult, Fatal Outcome, Psychotic Disorders, Sarcoidosis, Central Nervous System Diseases, Humans, Prednisone, Female, Cognition Disorders, Glucocorticoids
Abstract

Clinical involvement of the nervous system occurs in about 5% of patients with sarcoidosis. We describe a fatal case of a young patient with neurosarcoidosis with a relatively rare psychotic syndrome in the course of neurosarcoidosis, presenting itself as a depressive syndrome with delusions. The neurological manifestations consisted of cerebellar symptoms, peripheral neuropathy and general epileptic seizures. Cerebrospinal fluid examination, serum angiotensin-converting enzyme level, magnetic resonance imaging, chest radiography, gallium isotope scanning and other tests were used as diagnostic tools. He was treated with steroids, methotrexate and neuroleptics ineffectively. The patient died because of complications related to neurosarcoidosis. The diagnosis of neurosarcoidosis was confirmed by autopsy.

Published
2013

35. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

Author

Alfred L. George, Anne M. Connolly, Hubert Kwieciński, Robert C. Griggs, J. W. Roberts, Jie Zhang, Louis J. Ptáček, and G. T. Fouad

Subjects
musculoskeletal diseases, Proband, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Myotonia Congenita, Nonsense mutation, Polymerase Chain Reaction, Chloride Channels, Internal medicine, medicine, Humans, Allele, Muscle, Skeletal, Genetics, CLCN1, biology, business.industry, Myotonia congenita, Skeletal muscle, Exons, Myotonia, medicine.disease, Endocrinology, medicine.anatomical_structure, Mutation, Chloride channel, biology.protein, Neurology (clinical), business
Abstract

Myotonia, defined as delayed relaxation of muscle after contraction, is seen in a group of genetic disorders that includes autosomal dominant myotonia congenita (Thomsen's disease) and autosomal recessive myotonia congenita (Becker's disease). Both disorders are characterized electrophysiologically by increased excitability of muscle fibers, reflected in clinical myotonia. These diseases are similar except that transient weakness is seen in patients with Becker's, but not Thomsen's disease. Becker's and Thomsen's diseases are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1). Genetic screening of a panel of 18 consecutive myotonia congenita (MC) probands for mutation in CLCN1 revealed that a novel Gln-68-Stop nonsense mutation predicts premature truncation of the chloride channel protein. Four previously reported mutations, Arg-894-stop, Arg-338-Gln, Gly-230-Glu, and del 1437-1450, were also noted in our sample set. The Arg-338-Gln and Gly-230-Glu mutations were found in patients with different phenotypes from those of previous reports. Further study of the Arg-338-Gln and Gln-230-Glu alleles may shed light on variable modes of transmission (dominant versus recessive) in different families. Physiologic study of these mutations may lead to better understanding of the pathophysiology of myotonia in these patients and of voltage-gated chloride channel structure/function relationships in skeletal muscles.

Published
1996

36. On the Legacy of Joseph Babiński

Author

Andrzej P. Gąsecki and Hubert Kwieciński

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Eponyms, Neurology, Psychoanalysis, business.industry, Neurosurgery, History, 19th Century, History, 20th Century, Reflex, Babinski, humanities, Surgery, Clinical neurology, body regions, medicine, Humans, France, Neurology (clinical), business
Abstract

Joseph Babiński pioneered development of French neurosurgery and world clinical neurology. Although he was best known for his discovery of the extensor plantar response, his foundations in the modern semiology of neurology are unequivocal. He introduced the concepts and terminology of cerebellar symptoms and discovered a reflex asymmetry as the sign of organic disease. Although he considered the development of French neurosurgery by his pupils as his greatest accomplishment, it is 'the sign' that has dominated his legacy over the years. This sign will also celebrate a centenary in 1996.

Published
1995

38. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain

Author

H. Hattig, C. Delli Pizzi, M. C. Addonizio, Michelle Davis, A. R. Giovagnoli, L. Florensa, M. Roth, J. de Kruijk, Francisco Lacruz, Ph. Dewailly, A. Toygar, C. Avendano, P.P. De Deyn, J. F. Hurtevent, F. Lomeila, T. W. Wong, Gordon T. Plant, M. Bud, H. J. Willison, DH Miller, D. W. Langdon, R. Cioni, J. Servan, A. Kaygisiz, E. Racadot, D. B. Schens, E. Picciola, L. Falip, C. Bouchard, J. Jotova, A. Jorge-Santamaria, P. Misra, A. Dufour, C. P. Panagopoulos, A. Venneri, B. Sredni, B. Angelard, M. Janelidze, M. Carreno, J. Obenberger, J. Pouget, H. W. Moser, R. Kaufmann, J. A. Molina, D. Linden, A. Martin Urda, E. Uvestad, A. Krone, J. P. Cochin, J. Mallecourt, A. Cambon-Thomsen, K. Violleau, P. Osschmann, A. M. Durocher, E. Bussaglia, D. M. Danielle, H. Efendi, C. Van Broeckhoven, K. G. Jordan, W. Rautenberg, C. Iniguez, J. M. Delgado, Graham Watson, M. Lawden, Gareth J. Barker, K. Stiasny, James T. Becker, G. Campanella, E. Peghi, A. Poli, A. Haddad, T. Yamawaki, Giacomo P. Comi, S. Sotgiu, B. Ersmark, A. Pomes, M. Ziegler, P. Ferrante, P. Ruppi, H. KuÇukoglu, R. Bouton, U. K. Rinne, P. Vieregge, M. Dary, P. Giunti, Peter J. Goadsby, S. Jung, E. Secor, A. Steinberg, N. Vila, M. A. Hernandez, M. Cursi, A. Enqelhardt, A. Engelhardt, J. Veitch, F. Di Silverio, F. Arnaud, B. Neundörfer, R. Brucher, Dominique Caparros-Lefebvre, B. Meyer, Marianne Dieterich, M. H. Snidaro, R. Gomez, R. Cerbo, M. Ragno, J. M. Vance, S. Nemni, A. Caliskan, F. Barros, I. Velcheva, D. Ceballos-Baumann, V. Barak, A. Avila, N. Antonova, F. Resche, S. Pappata, L. Varela, S. R. Silveira Santos, A. Cammarota, L. Naccache, Y. Nara, E. Tournier-Lasserves, R. Mobner, T. Chase, A. Ensenyat, J. Ulrich, G. Giegerich, M. Rother, M. Revilla, N. Nitschke, K. Honczarenko, E. Basart Tarrats, J. Blin, B. Jacob, J. Santamaria, S. Knezevic, J. L. Castillo, M. Antem, J. Colomer, O. Busse, Didier Hannequin, S. Carrier, J. B. Ruidavets, C. Rozman, J. Bogoussslavsky, J. Pascual Calvet, E. Monros, J. M. Polo, M. Zucconl, Javier Muruzabal, R. R. Allen, R. Rivolta, K. Haugaard, A. Nespolo, K. Hoang-Xuang, G. Bussone, T. Avramidis, E. Corsini, Christiana Franke, T. Vinogradova, H. Boot, K. Vestergaard, G. H. Jansen, N. Argentino, M. Raltzig, W. Linssen, Mark B. Pepys, P. Roblot, L. Lauritzen, E. Fainardi, D. Morin, T. X. Arbizu Urdiain, J. Wollenhaupt, S. Bostantjopoulou, G. Pavesi, A. D. Forman, Giovanni Fabbrini, D. Jean, J. J. Archelos, M. I. Blanchs, M. Del Gobbo, Anna Carla Turconi, Ch. Derouesné, Elio Scarpini, A. Visbeck, P. Castejon, J. P. Renou, F. Mounier-Vehier, G. Potagas, Ch. Duyckaerts, A. Filla, R. Schneider, G. Ronen, K. Nagata, J. P. Vedel, A. Henneberg, G. van Melle, C. Baratti, H. Knott, M. C. Prevett, A. Bes, B. Metin, Jos V. Reempts, L. Martorell, Mefkure Eraksoy, H. O. Handwerker, D. S. Younger, O. Oktem, D. Frongillo, C. Soriano-Soriano, L. Niehaus, F. Zipp, A. Tartaro, S Newman, R. H. Browne, P. Davous, R. Sanchez, M. Muros, M. E. Kornhuber, A. Lavarone, M. Mohr, M. R. Garcia, S. Russell, H. Kellar-Wood, M. R. Tola, B. Ostermeyer, Ch. Tzekov, K. Sartor, E. B. Ringelstein, P. P. Gazzaniga, Paul Krack, H. Fidaner, H. Rico, T. Dbaiss, F. Alameda, E. Torchiana, L. Rumbach, I. Charques, J. M. Bogaard, C. D. Frith, L. J. Rappelle, R. Brenner, A. Joutel, K. Fuxe, G. HÄcker, M. J. Blaser, J. Valls-SolÇ, G. Ulm, M. Alberdi, A. Bock, F. W. Bertelsmann, U. Wieshmann, J. Visa, J. R. Lupski, D. D'Amico, L. M. P. Ramos, A. A. Vanderbark, R. Horn, M. Warmuth, Dietmar Kühne, Mark S. Palmer, C. Ehrenheim, E. Canga, S. Viola, O. Scarpino, P. Naldi, R. Almeida, A. A. Raymond, J. Gamez, Stephan Arnold, A. DiGiovanni, J. Dalmau, C. C. Chari, H. F. Beer, J. C. Koetsier, J. Iriarte, E. Yunis, J. Casadevall, E. Le Guern, E. Stenager, S. R. Benbadis, J. M. Warter, F. Burklin, I. Theodorou, L. Johannesen, G. A. Graveland, X. Leclerc, I. Vecchio, L. Ozelius, G. Nicoletti, R. K. Gherardi, E. Esperet, M. L. Delodovici, F. Cattin, F. Paiau, Giorgio Sacilotto, C. A. J. Broere, D. Chavdarov, J. P. Willmer, C. H. Hawkes, Th. Naegele, E. Ellie, E. Dartigues, M. J. Guardiola, S. Hesse, Z. Levic, Marco Rovaris, P. Saugeir-Veber, B. A. Yaqub, H. F. Durwen, R. Larumbe, J. Ballabrina, M. Sendtner, J. Röther, M. Horstink, C. Kluglein, M.P. Montesi, H. Apaydin, J. Montoya, E. Waubant, Ch. Verellen-Dunoulin, A. Nicolai, J. Lopez-Delval, R. Lemon, G. Cantinho, E. Granieri, A. Zeviani, Wolfgang H. Oertel, U. Ficola, V. Di Piero, V. Fragola, K. Sabev, M. V. Guitera, I. Turki, F. Bolgert, P. Ingrand, J. M. Gobernado, L. M. E. Grimaldi, S. Baybas, B. Eymard, Y. Rolland, Y. Robitaille, Ta. Pampols, P. J. Koehler, A. Carroacedo, J. Vilchez, S. Di Vittorio, I. R. Rise, T. Nagy, M. Kuffner, E. Palazzini, A. Ott, J. Pruim, T. X. Arbizu, E. Manetti, C. Cervera, S. Felber, G. Gursoy, J. Scholz, G. A. Buscaino, M. S. Chen, A. Pascual, J. Hazan, J. U. Gajda, J. G. Cea, G. Bottini, G. Damalik, F. Le Doze, G. Bonaldi, J. M. Hew, C. Messina, A. M. Kennedy, J. M. Carney, N. M. F. Murray, M. Parent, M. Koepp, V. Dimova, D. De Leo, K. Jellinger, G. Salemi, S. Mientus, M. L. Hansen, F. Mazzucchelli, J. Vieth, M. Mauri, E. Bartels, L. Johannsen, C. Humphreys, J. Emile, D. N. Landon, E. Kansu, R. Sanchez-Pernaute, Rsj Frackowiak, M. Gonzalez Torres, L. Oller, C. Machedo, J. Kother, M. Billiard, H. Durak, T. Schindler, A. Frank, A. Uncini, A. Sbriccoli, C. Farinas, D. W. Paty, N. Fast, A. T. Zangaladze, A. Kerkhofs, J. M. Pino Garcia, I. De la Fuente, B. Marini, L. Gomez, I. Rubio, Alessandra Bardoni, C. Brodie, P. Acin, U. Sliwka, S. A. Hawkins, S. Tardieu, F. Vitullo, J. M. Pereira Monteino, R. Gagliardi, T. Jezewski, A. Cano, T. Lempert, F. Abad Alegria, G. Rotondo, D. Ince, C. Martinez Parra, Y. Huang, H. Luders, Y. Steinvil, F. G. A. Van Der Meche, R. Bianchi, A. Sanchez, T. Sevilla, J. M. Ketelslegers, A. Domzal-Stryga, M. Pandolfo, M. O. Josse, K. W. Neff, I. Blanco, G. W. Bruyn, O. W. Witte, J. L. Thibault, G. Andersen, J. Pariset, A. Marcone, R. J. M. Lane, A. Hofman, M. Verin, T. Matilla, P. Bedoucha, J. Roche, M. Lai, M. Collard, A. Ugarte, F. Gallecho, D. Silbersweig, C. Kennard, J. P. Azulay, T. W. Ho, P. L. I. Dellemijn, R. Girardello, F. Baas, B. Voss, F. Rozenberg, E. M. Brocker, V. Stanev, A. A. J. Soeterboek, A. Marra, A. Rey, E. Ertem, M. Sawradewicz-Rybak, J. De Keyser, P. Cavallari, F. Proust, Y. Chevalier, H. C. Hansen, D. Leys, C. A. Davie, K. Hoang-Xuan, C. Bairati, H. van Crevel, Thomas T. Warner, B. Bompais, A. Dobbeleir, T Campbell, C. Macko, C. J. M. Klijn, M. Dussallant, T. P. Berlit, W. Rozenbaum, M. J. van den Bent, W. A. Rocca, M. Muller, H. Hundemer, U. Zifko, M. Campera, F. Drislane, D. Ranoux, T. M. Kloss, Anil Kumar, I. Ruolt, C. Bargnani, B. Marescau, N. A. Losseff, S. Notermans, B. Kint, E. T. Burke, C. Aykut, J. Matias Guiu, P. Maquet, T. Drogendijk, M. Leone, K. von Ammon, M. Pepeliarska, C. Prados, L. DiGiamberardino, T. Logtenberg, G. Lenoir, I. Castaldo, Damhaut, M. Radionova, G. Sirabian, R. Navon, Giovanni Antonini, K. Al Moutaery, E. Chamas, R. Schönhuber, M. Giannini, B. Debilly, I. Labatut, H. Henon, J. A. Egido, M. Baudrimont, J. N. Lorenzo, J. E. C. Bromberg, R. Antonacci, J. J. Vilchez, T. Moulin, B. Rautenstrauss, Giovanni Meola, J. Noth, S Mammi, P. Laforet, F. Lopez, C. Gehring, S. Bort, G. Rancurel, D. Decamps, S. Kostadinova, Y. Shapira, B. Neundoerfer, D. Chavrot, M. Solimena, J. P. Salier, W. Deberdt, R. Hoff-Jörgensen, A. Messina, S. Meairs, G. Rosoklija, E. Nelis, I. Bertran, C. Ertekin, J. Lohmeyer, Mitermayer Galvao dos Reis, L. Calo, E. Maccagnano, A. P. Hays, J. Verlooy, M. G. Forno, T. Blanco, L. Bail, Gabriella Silvestri, J. Montero, F. Bertrand, R. T. Ghnassia, C. Besses, T. Sereghy, F. Shalit, G. Bogliun, S. Braghi, St. Baykouchev, C. Franke, A. Lasa, L. C. Archard, J. Kriebel, S. Shaunak, M. Nocito, Alexander Tsiskaridze, E. Manfredini, T. Seigal, David G. Gadian, M. Barlas, J. D. Degos, C. Seeber, J. Caemert, J. L. Mas, R. B. Pepinsky, M. G. D'Angelo, N. Baumann, S. Yorifuji, H. P. Endtz, M. A. Cassatella, R. A. C. Hughes, V. Golzi, A. Bittencourt, A. Ferreira, M. Sanson, C. Alper, M. Vermeulen, M. A. A. van Walderveen, E. Alexiou, C. H. Lucas, M. Fiorelli, Y. N. Debbink, R. Gil, S. Congia, T. Banerjee, J. M. Bouchard, A. N. Pinto, A. Ceballos-Baumann, G. Grollier, P. I. M. Schmitz, M. D. Catata, N. Lahat, N. S. Rao, P. Papathanasopoulos, J. Valls-Solé, D. Claus, G. Schroter, A. Castro, C. Videbaek, R. Martinez Dreke, A. D. Platts, M. Hermesl, A. C. PeÇanha-Martins, M. Cardoso Silva, P. Masnou, M. J. A. Tanner, Ch. Confavreux, B. Mishu, H. Rasmussen, L. Valenciano, Carlo Pozzilli, S. W. Li, V. Salzman, Y. Vashtang, Massimo Franceschi, M. Severo, G. Deuschl, S. Setien, G. Mariani, A. Protti, J. Castillo, M. J. B. Taphoorn, M. Frontali, I. Milonas, D. Decoq, J. A. Navarro, S. Castellvi-Pel, C. Ertikin, M. Urtasun, Y. Lajat, B. E. Kendall, E. Verdu, B. Gueguen, E. Boisen, R. Couderc, A Danek, JM Stevens, F. Nicoli, L. Feltri, M. L. Vazquez-Andre, J. A. Morgan-Hughes, L. D'Angelo, F. Y. Liew, L. F. Pascual, J. Patrignani Ochoa, Vittorio Martinelli, J. Cophignon, L. Zhang, S. Martin, J. F. Meder, H. C. Buschmann, L. Bertin, J. van Gijn, A. Barreiro, A. Cools, C. Leon, A. Berod, E. A. Anllo, E. Zanette, L. Petrov, R. Barona, B. Gallicchio, P. J. Cozzone, N. Diederich, G. Cancel, L. Schelosky, P. Orizaola, K. Yulug, S. Ozer, Valeria A. Sansone, B. Guiraud-Chaumeil, K. Voigt, P. Labauge, M. Eoli, J. Zhu, J. Aguirre, M. Ferrarini, B. Zyluk, E. Planas, A. Cadilha, C. Tortorella, H. Bismuth, C. E. Counsell, A. Laun, A. Ferlini, Rio J. Montalban, N. Biary, L. Becker, M. Fardeau, M. Poloni, V. M. S. de Bruin, C. Fornada, J. Barros, E. Ganzmann, E. Touze, D. Wallach, J. Peila, H. Fujimura, M. T. Iba-Zizen, G. Macchi, C. Villoslada, R. Gouider, Ph. Rondepierre, P. Grummich, P. Chiodi, C. Conte, M. Michels, P. Annunziata, G. Semana, C. Sommer, J. Vajsar, D. Zekin, J. Kulisevsky, David G. Munoz, B. Jacotot, M. Magoni, A. Luxen, T. Garcia-Silva, S. Di Cesare, Christophe Tzourio, M. Gomori, I. Picomell, L. Santoro, F. Villa, Giovanni Pennisi, T. Ribalta, J. M. Molto, L. Marzorati, P. Loiseau, F. Gemignani, A. Gironell, J. Wissel, A. Prusinski, F. Cailloux, P. Villanueva-Hemandez, P. Cozzone, T. Del Ser, J. Sans-Sabrafen, M. Zappia, P. W. A. Willems, G. Tchernia, D. Gardeur, R. Bauer, F. Palomo, H. Metz, S. Lamoureux, C. Chastang, I. Reinhard, A. Goldfarb, S. Harder, Jordi Río, C. Ozkara, E. Tekinsoy, P. Vontobell, J. De Recondo, M. Rabasa, L. Lacomblez, F. Boon, Dgt Thomas, V. Palma, Renato Mantegazza, A. Dervis, M. Nueckel, B. YalÇinerner, I. Duran, G. Dalla Volta, A. Zubimendi, J. Pinheiro, A. Marbini, Xavier Montalban, H. Wekerle, X. Pereira Monteino, F. Crespo, F. Koskas, N. Battistini, C. Ruiz, H. Offner, J. de Pommery, P. Kanovsky, J. Y. Barnett, J. Pardo, G. Tomei, R. Rene, H. M. Lokhorst, P. Thajeb, H. Bilgin, D. McGehee, R. Fahsold, L. Morgante, Katie Sidle, C. Delwaide, M. N. Diaye, P. H. Rice, A. Creange, C. Sabev, K. Stephan, K. WeilBenborn, G. Magnani, L. Grymonprez, F. Cardellach, M. Kaps, N. G. Meco, F. Vega, V. Bonifati, A. Desomer, M. Baldy-Moulinier, G. Kvale, F. J. Authier, B. Yegen, T. Ho, J. M. Rozet, E. A. Cabanis, L. Bruce, L. Ambrosoli, M. A. Petrella, M. Hernandez, P. Timmings, H. B. van der Worp, F. Mahieux, A. Urbano-Marquez, D. A. Krendel, A. A. Garcia, R. Divari, R. Michalowicz, M. R. Piedmonte, M. Bondavalli, M. Zanca, P. F. Ippel, Onofre Combarros, B. Tavitian, E. Hirsch, I. Anastasopoulos, A. Roses, A. Köhler, P. Vienna, V. Timmerman, P. Sergi, F. Cornelio, A. Di Pasquale, R. Verleger, S. Castellvirel, J. Proano, B. van Moll, F. Rubio, W. Hacke, I. Lavenu, L. Zetta, M. W. Tas, N. Bittmann, M. Bonamini, O. R. Hommes, V. Dousset, N. Afsar, S. Belal, R. R. Myers, J. Goes, Giuseppe Vita, E. Clementi, V. G. Karepov, M. Jueptner, A Vincent, P. Emmrich, Th. Heb, A. Caballo, J. Gallego, T. Mokrusch, C. Perla, L. Gebuhrer, O. Titlbach, Alessandro Prelle, A. Czlonkowska, M. Russo, D. Hadjiev, T. S. Chkhikvishvili, M. Oehlschlager, G. Becker, I. Günther, E. N. Stenager, J. Garcia Agundez, J. Casademont, J. Batlle, S. Podobnik-Sarkanji, C. Alonso-Villaverde, B. Delaguillaume, B. Genc, B. Mazoyer, A. Rodriguez-Al-barino, Ch. Hilger, B. Ferrero, R. Price, W. Grisold, L. Fuhry, D. Oulbani, D. Ewing, A. Petkov, W. Walther, A. Gokyigit, John Newsom-Davis, J. Tayot, D. Seliak, G. Pelliccioni, D. Campagne, K. Kessler, F. Boureau, D. Perani, J. P. N'Guyen, N. Tchalucova, B. A. Antin-Ozerkis, C. Lacroix, B. D. Aronovich, I. H. Jenkins, E. A. dos Reis, M. Hortells, H. M. Meinck, H. Ch. Buschmann, S. C. J. M. Jacobs, T. Wetter, P. Creissard, N. Martinez, J. Weidenfeldl, H. J. Sturenburg, G. Damlacik, V. Gracia, J. C. Turpin, A. Pou-Serradell, J. P. Vincent, T. Gagoshidze, U. Ozkutlu, M. McLeod, K. Siegfried, I. Tchaoussoglou, J. Hildebrand, S. Kowalska, M. C. Picot, G. Galardin, L. Crevits, F. Andreetta, S. Larumbe-Lobalde, G. de la Sierra, J. C. Alvarez-Cermeno, R. J. Seitz, P. L. Oey, L. Ptacek, A. M. J. Paans, A. Wirrwar, A. Schmied, J. Uilchez, H. Tounsi, D. Hipola, V. Avoledo, Y. Hirata, P. Vermersch, T. M. Aisonobe, J. Valls-SoIè, H. Staunton, J. Dichgans, R. Karabudak, I. Dones, G. Porta, E. Janssens, Maria Martinez, J. M. Fernandez-Real, R. Villagra, Y. Yoshino, C. Kabus, K. Schimrigk, I. Girard-Buttaz, F. Piccoli, F. Aichner, P. Zuchegna, S. M. Al Deeb, F. Bono, N. Busquets, A. Jobert, Patrizia Ciscato, M. Martin, L. Polman, S. Darbra, V. Le Cam-Duchez, F. Baldissera, B. Baykan-Kurt, D. Guez, M. Bratoeva, H. Matsui, M. Mila, H. Perron, L. Bjorge, G. Husby, Steven T. DeKosky, D. R. Cornblath, J. M. Gabriel, J. J. Poza, Y. Wu, A. Toscano, R. P. Kleyweg, J. Kuhnen, S. O. Confort-Gouny, A. Barcelo, A. M. Conti, C. Fiol, C. Steichen-Wiehn, J. Rodes, M. Cavenaile, C. Vedeler, M. Drlicek, C. Argentino, M. L. Peris, A. Cervello, A. Z. GinaÏ, S. Yancheva, D. Passingham, S. Aoba, D. L. Lopez, T. Rechlin, K. Sonka, L. Grazzi, V. Folnegovic-Smalc, Maurizio Moggio, S. Rivaud, F. G. I. Jennekens, C. H. Hartard, H. Meierkord, G. Stocklin, M. D. Catala, W. C. McKay, E. Salmon, C. Navarro, I. Pastor, L. Canafoglia, M. De Braekeleer, P. K. Thomas, C. Mocellini, C. Pierre-Jerome, M. C. Dalakas, P. Pollak, M. Levivier, Niall Quinn, G. E. Rivolta, Z. Tunca, H. Zeumer, J. Garcia Tena, St. Guily, P. Gaudray, Johannes Kornhuber, V. Petrunjashev, R. Montesanti, R. J. Abbott, H. Petit, G. Kiteva-Trencevska, F. Carletto, C. Ramo, I. M. Pino, P. Beau, G. F. Mennuni, F. Moschian, F. Meneghini, B. Zdziarska, B. Fontaine, C. Stephens, G. Meco, K. Reiners, G. Badlan, M. Sessa, I. Degaey, S. M. Hassan, C. Albani, F. Caroeller, M. Schroeder, G. Savettieri, A. Novelletto, R. Kurita, P. Oschmann, I. Plaza, M. Oliveres, Simone Spuler, A. Molins, M. Schwab, J. R. Kalden, C. P. Gennaula, Y. Baklan, O. Picard, J. M. Léger, B. Mokri, E. Ghidoni, M. Jacob, D. Deplanque, W. JÄnisch, C. De Andres, P. De Deyn, G. Guomundsson, B. Herron, J. Barado, J. L. Gastaut, Guglielmo Scarlato, F. Poron, Nicola Jones, H. Teisserenc, C. P. Hawkins, A. J. Steck, H. C. Chandler, S. Blanc, J. H. Faiss, Jm. Soler Insa, I. Sarova-Ponchas, M. Malberin, A. Sackmann, G. De Vuono, K. Kaiser-Rub, K. Badhia, E. Szwabowska-Orzeszko, S. Ramm, C. Jodice, G. Franck, J. Marta-Moreno, R. Sciolla, C. Fritz, A. Attaccalite, F. Weber, E. Neuman, M. Cannata, A. Rodriguez, I. Nachainkin, R. Raffaele, T. S. Yu, N. Losseff, E. Fabrizio, C. Khati, M. Keipes, M. P. Ortega, M. Ramos-Alvarez, E. Brambilla, A. Tarasov, K. H. Wollinsky, O. B. Paulson, F. Boller, G. Bozzato, H. Wagnur, R. Canton, D. Testa, E. Kutluaye, M. Calopa, D. Smadja, G. Malatesta, F. Baggi, A. Stracciari, G. Daral, G. Avanzini, J. Perret, J. Arenas, P. Boon, I. Gomes, A. Vortmeyer, P. Cesaro, S. Venz, E. Bernd Ringelstein, N. Milani, D. Laplane, P. Seibel, E. Tournier-Lasserve, Alexis Brice, L. Motti, E. Wascher, R. J. Abbot, F. Miralles, A. Turon, P. De Camilli, G. Luz, G. C. Guazzi, S. Tekin, F. Lesoin, T. Kryst, N. Lannoy, F. Gerstenbrand, S. Ballivet, H. A. M. van Diemen, J. Lopez-ArLandis, P. Bell, A. Silvani, M. A. Garcia, S. Vorstrup, D. Langdon, S. Ueno, B. Sander, V. Ozurk, C. Gurses, P. Berlit, J. M. Martinez-Lage, M. Treacy, S. O. Rodiek, S. Cherninkova, J. Grimaud, P. Marozzi, K. Hasert, S. Goldman, S. H. Ingwersen, A. Taghavy, T. Roig, R. Harper, I. Sarova-Pinchas, Anthony H.V. Schapira, R. Lebtahi, A. Vidaller, B. Stankov, D. Link, J. p. Malin, V. Petrova, Ludwig Kappos, J. L. Ochoa, T. Torbergsen, M. Carpo, M. Donato, Simon Shorvon, J. Mieszkowski, J. Perez-Serra, Raymond Voltz, G. Comi, S. Rafique, A. Perez-Sempere, N. Khalfallah, S. Bailleul, M. Borgers, S. Banfi, S. Mossman, A. Laihinen, G. Filippini, R. A. Grunewald, E. Stern, H. D. Herrmann, A. G. Droogan, P. Xue, A. Grilo, L. La Mantia, J. H. J. Wokke, S. Pizzul, Kie Kian Ang, S. Rapaport, W. Szaplyko, B. Romero, P. Brunet, A. 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Navasa, J. Ballabriga, G. Broggi, T. Gudeva, C. Rose, J. Vion-Dury, J. A. Gastaut, J. Pniewski, Nicola J. Robertson, G. Kohncke, M. Billot, S. Gok, E. Castellli, F. Denktas, P. Bazzi, F. Spinelli, I. F. Moseley, C. D. Mardsen, B. Barbiroli, O. M. Koriech, A. Miller, Hiroaki Yoshikawa, F. X. Borruat, J. Zielasek, P. Le Coz, J. Pascual, A. Drouet, L. T. Giron, F. Schondube, R. Midgard, M. Alizadeh, M. Liguori, Lionel Ginsberg, L. Harms, C. Tilgner, G. Tognoni, F. Molteni, Mar Tintoré, M. Psylla, C. Goulon-Goeau, M. V. Aguilar, Massimo Filippi, K. H. Mauritz, Thomas V. Fernandez, C. Basset, S. Rossi, P. Meneses, B. Jandolo, T. Locatelli, D. Shechtcr, C. Magnani, R. Ferri, Bruno Dubois, J. M. Warier, S. Berges, F. Idiman, M. Schabet, R. R. Diehl, P. D'aurelio, M. Musior, Reinhard Hohlfeld, P. Smeyers, M. Olivé, A. Riva, C. A. Broere, N. Egund, S. Franceschetti, V. Bonavita, Nicola Canal, E. Timmermans, M. Ruiz, S. Barrandon, G. Vasilaski, B. Deweer, L. Galiano, S. F. T. M. de Bruijn, L. Masana, A. Goossens, B. Heye, K. Lauer, Heinz Gregor Wieser, Stephen R. Williams, B. Garavaglia, A. P. Sempere, F. Grigoletto, P. Poindron, R. Lopez-Pajares, I. Leite, T. A. McNell, C. Caucheteur, J. M. Giron, A. D. Collins, P. Freger, J. Sanhez Del Rio, D. A. Harn, K. Lindner, S. S. Scherer, G. Serve, M. Juncadella, X. Estivill, R. Binkhorst, M. Anderson, B. Tekinsoy, C. Sagan, T. Anastopoulos, G. Japaridze, S. Guillou, F. Erminio, Jon Sussman, P. G. Oomes, D. S. Rust, S. Mascheroni, O. Berger, M. Peresson, K. V. Toyka, T. W. Polder, M. Huberman, B. Arpaci, H. Ramtami, I. Martinez, Ph. Violon, P. P. Gazzaniga Pozzill, R. Ruda, P. Auzou, J. Parker, S. P. Morrissey, Jiahong Zhu, F. Rotondi, P. Baron, W. Schmid, P. Doneda, M. Spadaro, M. C. Nargeot, I. Banchs, J.S.P. van den Berg, R. Ferrai, M. Robotti, M. Fredj, Pedro M. Rodríguez Cruz, B. Erne, D. G. Piepgras, M. C. Arne-Bes, J. Escudero, C. Goetz, A. R. Naylor, M. Hallett, O. Abramsky, E. Bonifacio, L. E. Larsson, R. Pellikka, P. Valalentino, D. Guidetti, B. Buchwald, C. H. Lücking, D. Gauvreau, F. Pfaff, A. Ben Younes-Chennoufi, R. Kiefer, R. Massot, K. A. Hossmann, L. Werdelin, P. J. Baxter, U. Ziflo, S. Allaria, C. D. Marsden, M. Cabaret, S. P. Mueller, E. Calabrese, R. Colao, S. I. Bekkelund, M. Yilmaz, O. Oktem-Tanor, R. Gine, M. E. Scheulen, J. Beuuer, A. Melo, Z. Gulay, M. D. Have, C. Frith, D. Liberati, J. Gozlan, P. Rondot, Ch. Brunholzl, M. Pocchiari, J. Pena, L. Moiola, C. Salvadori, A. Cabello, T. Catarci, S. Webb, C. Dettmers, N. A. Gregson, Alexandra Durr, F. Iglesias, U. Knorr, L. Ferrini-Strambi, F. Kruggel, P. Allard, A. Coquerel, P. Genet, F. Vinuels, C. Oberwittler, A. Torbicki, P. Leffers, B. Renault, B. Fauser, C. Ciano, G. Uziel, J. M. Gibson, F. Anaya, C. Derouesné, C. N. Anagnostou, M. Kaido, W. Eickhoff, G. Talerico, M. L. Berthier, A. Capdevila, M. Alons, D. Rezek, E. Wondrusch, U. Kauerz, D. Mateo, M. A. Chornet, Holon, N. Pinsard, I. Doganer, E. Paoino, H. Strenge, C. Diaz, J. R. Brasic, W. Heide, I. Santilli, W. M. Korn, D. Selcuki, M. J. Barrett, D. Krieger, T. Leon, T. Houallah, M. Tournilhac, C. Nos, D. Chavot, F. Barbieri, F. J. Jimenez-Jimenez, J. Muruzabal, K. Poeck, A. Sennlaub, L. M. Iriarte, L. G. Lazzarino, C. Sanz, P. A. Fischer, S. D. Shorvon, R. Hoermann, F. Delecluse, M. Krams, O. Corabianu, F. H. Hochberg, Christopher J. Mathias, B. Debachy, C. M. Poser, L. Delodovici, A. Jimenez-Escrig, F. Baruzzi, F. Godenberg, D. Cucinotta, P. J. Garcia Ruiz, K. Maier-Hauff, P. R. Bar, R. Mezt, R. Jochens, S. Karakaneva, C. Roberti, E. Caballero, Joseph E. Parisi, M. Zamboni, T. Lacasa, B. Baklan, J. C. Gautier, J. A. Martinez-Matos, W. Pollmann, G. Thomas, L. Verze, E. Chleide, R. Alvarez Sala, I. Noel, E. Albuisson, O. Kastrup, S. I. Rapoport, H. J. Braune, H. Lörler, M. Le Merrer, A. Biraben, S. Soler, S. J. Taagholt, U. Meyding-Lamadé, K. Bleasdale-Barr, Isabella Moroni, Y. Campos, J. Matias-Guiu, G. Edan, M. G. Bousser, John B. Clark, J. Garcia de Yebenes, N. K. Olsen, P. Hitzenberger, S. Einius, Aj Thompson, Ch. J. Vecht, T. Crepin-Leblond, Klaus L. Leenders, A. Di Muzio, L. Georgieva, René Spiegel, K. Sabey, D. Ménégalli, J. Meulstee, U. Liszka, P. Giral, C. Sunol, J. M. Espadaler, A. D. Crockar, K. Varli, G. Giraud, P. J. Hülser, A. Benazzouz, A. Reggio, M. Salvatore, K. Genc, M. Kushnir, S. Barbieri, J. Ph. Azulay, M. Gianelli, N. Bathien, A. AlMemar, F. Hentati, I. Ragueneau, F. Chiarotti, R. C. F. Smits, A. K. Asbury, F. Lacruz, B. Muller, Alan J. Thompson, Gordon Smith, K. Schmidt, C. Daems Monpeun, Juergen Weber, A. Arboix, G. R. Fink, A. M. Cobo, M. Ait Kaci Ahmed, E. Gencheva, Israel-Biet, G. Schlaug, P. De Jonghe, Philip Scheltens, K. Toyka, P. Gonzalez-Porque, A. Cila, J. M. Fernandez, P. Augustin, J. Siclia, S. Medaglini, D. E. Ziogas, A. Feve, L. Kater, G. J. E. Rinkel, D. Leppert, Rüdiger J. Seitz, S. Ried, C. Turc-Carel, G. Smeyers, F. Godinho, M. Czygan, M. Rijntjes, E. Aversa, M. Frigo, Leif Østergaard, J. L. Munoz Blanco, A. Cruz-Matinez, J. De Reuck, C. Theillet, T. Barroso, V. Oikonen, Florence Lebert, M. Kilinc, C. Cordon-Cardon, G. Stoll, E. Thiery, F. Pulcinelli, J. Solski, M. Schmiegelow, L. J. Polman, P. Fernandez-Calle, C. Wikkelso, M. Ben Hamida, M. Laska, E. Kott, W. Sulkowski, C. Lucas, N. M. Bornstein, D. Schmitz, M. W. Lammers, A. de Louw, R. J. S. Wise, P. A. van Darn, C. Antozzi, P. Villanueva, P. H. E. Hilkens, C. Constantin, W. Ricart, A. Wolf, M. Gamba, P. Maguire, Alessandro Padovani, B. M. Patten, Marie Sarazin, H. Ackermann, L. Durelli, S. Timsit, Sebastian Jander, B. W. Scheithauer, G. Demir, J. P. Neau, P. Barbanti, A. Brand, N. AraÇ, V. Fischer-Gagnepain, R. Marchioli, G. Serratrice, C. Maugard-Louboutin, G. T. Spencer, D. Lücke, G. Mainardi, K. Harmant Van Rijckevorsel, G. B. Creel, R. Manzanares, Francesco Fortunato, A. May, J. Workman, K. Johkura, E. Fernandez, Carlo Colosimo, L. Calliauw, L. Bet, Félix F. Cruz-Sánchez, M. Dhib, H. Meinardi, F. Carrara, J. Kuehnen, C. Peiro, H. Lassmann, K. Skovgaard Olsen, A. McDonald, L. Sciulli, A. Cobo, A. Monticelli, B. Conrad, J. Bagunya, J. Benitez, V. Desnizza, B. Dupont, O. Delrieu, D. Moraes, J. J. Heimans, F. Garcia Rio, M. Matsumto, A. Fernandez, R. Nermni, R. Chalmers, M. J. Marchau, F. Aguado, P. Velupillai, P. J. Martin, P. Tassan, V. Demarin, A. Engelien, T. Gerriets, Comar, J. L. Carrasco, J. P. Pruvo, A. Lopez de Munain, D. Pavitt, J. Alarcon, Chris H. Polman, B. Guldin, N. Yeni, Hartmut Brückmann, N. Wilczak, H. Szwed, R. Causaran, G. Kyriazis, M. E. Westarp, M. Gasparini, N. Pecora, J. M. Roda, E. Lang, V. Scaioli, David R. Fish, D. Caputo, O. Gratzl, R. Mercelis, A. Perretti, G. Steimetz, I. Link, C. Rigoletto, A. Catafau, G. Lucotte, M. Buti, G. Fagiolari, A. Piqueras, C. Godinot, J. C. Meurice, Erodriguez J. Dominigo, F. Lionnet, H. Grzelec, David J. Brooks, P. M. G. Munro, F. X. Weilbach, M. Maiwald, W. Split, B. Widjaja-Cramer, V. Ozturk, J. Colas, E. Brizioli, J. Calleja, L. Publio, M. Desi, R. Soffietti, P. Cortinovis-Tourniaire, E. F. Gonano, G. Cavaletti, S. Uselli, K. Westerlind, H. Betuel, C. O. Dhiver, H. Guggenheim, M. Hamon, R. Fazio, P. Lehikoinen, A. Esser, B. Sadzot, G. Fink, Angelo Antonini, D. Bendahan, V. Di Carlo, G. Galardi, A. F. Boller, M. Aksenova, Del Fiore, V. de la Sayette, H. Chabriat, A. Nicoletti, A. Dilouya, M. L. Harpin, E. Rouillet, J. Stam, A. Wolters, M. R. Delgado, Eduardo Tolosa, G. Said, A. J. Lees, L. Rinaldi, A. Schulze-Bonhage, MA Ron, C. Lefebvre, E. W. Radü, R. Alvarez, M. L. Bots, P. Reganati, S. Palazzi, A. Poggi, N. J. Scolding, V. Sazdovitch, T. Moreau, E. Maes, M. A. Estelies, P. Petkova, Jose-Felix Marti-Masso, G De La Meilleure, N. Mullatti, M. Rodegher, N. C. Notermans, T. A. T. Warner, S. Aktan, J. P. Louboutin, L. Volpe, C. Scheidt, W. Aust, C. M. Wiles, U. Schneider, S. K. Braekken, W. R. Willems, K. Usuku, Peter M. Rothwell, C. Talamon, M. L. Sacchetti, A. Codina, M. H. Marion, A. Santoro, J. Roda, A. Bordoni, D. J. Taylor, S. Ertas, H. H. Emmen, J. Vichez, V. BesanÇon, R. E. Passingham, M. L. Malosio, A. Vérier, M. Bamberg, A. W. Hansen, E. Mostacero, G. Gaudriault, Marie Vidailhet, B. Birebent, K. Strijckmans, F. Giannini, T. Kammer, I. Araujo, J. Nowicki, E. Nikolov, A. Hutzelmann, R. Gherardi, J. Verroust, L. Austoni, A. Scheller, A. Vazquez, S. Matheron, H. Holthausen, J. M. Gerard, M. Bataillard, S. Dethy, V. H. Patterson, V. Ivanez, N. P. Hirsch, F. Ozer, M. Sutter, C. Jacomet, M. Mora, Bruno Colombo, A. Sarropoulos, T. H. Papapetropoulos, M. Schwarz, D. S. Dinner, N. Acarin, B. Iandolo, J. O. Riis, P. R. J. Barnes, F. Taroni, J. Kazenwadel, L. Torre, A. Lugaresi, I. L. Henriques, S. Pauli, S. Alfonso, Pedro Quesada, A. S. T. Planting, J. M. Castilla, Thomas Gasser, M. Van der Linden, A. Alfaro, E. Nobile-Orazio, G. Popova, W. Vaalburg, F. G. A. van der Mech, L. Williams, F. Medina, J. P. Vernant, J. Yaouanq, B. Storch-Hagenlocher, A. Potemkowski, R. Riva, M. H. Mahagne, M. Ozturk, Ve. Drory, N. Konic, C. Jungreis, A. Pou Serradell, J. L. Gauvrit, G. J. Chelune, S. Hermandez, T. Dingus, L. Hewer, Ch. Koch, M. N. Metz-Lutz, G. Parlato, M. Sinaki, Charles Pierrot-Deseilligny, H. C. Diener, J. Broeckx, J. Weill-Fulazza, M. L. Villar, M. Rizzo, O. Ganslandt, C. Duran, N. A. Fletcher, G. Di Giovacchino, Susan T. Iannaccone, C. Kolig, N. Fabre, H. A. Crockard, Rita Bella, M. Tazir, E. Papagiannuli, K. Overgaard, Emma Ciafaloni, I. Lorenzetti, F. Viader, P. A. H. Millac, I. Montiel, L. H. Visser, M. Palomar, P. L. Murgia, H. Pedersen, Rafael Blesa, S. Seddigh, W. O. Renier, I. Lemahieu, H. M. L. Jansen, L. Rosin, J. Galofre, K. Mattos, M. Pondal, G. M. Hadjigeorgiou, D. Francis, L. Cantin, D. Stegeman, M. Rango, A. B. M. F. Karim, S. Schraff, B. Castellotti, I. Iriarte, E. Laborde, T. J. Tjan, R. Mutani, D. Toni, B. Bergaasco, J. G. Young, C. Klotzsch, A. Zincone, X. Ducrocq, M. Uchuya, O. J. Kolar, A. Quattrone, T. Bauermann, Nereo Bresolin, J. Vallée, B. C. Jacobs, A. Campos, Werner Poewe, J. A. Villanueva, A. W. Kornhuber, A. Malafosse, E. Diez-Tejedor, G. Jungreia, M. J. A. Puchner, A. Komiyama, O. Saribas, V. Volpini, L. Geremia, S. Bressi, A. Nibbio, Timothy E. Bates, T. z. Tzonev, E. Ideman, G. A. Damlacik, G. Martino, G. Crepaldi, T. Martino, Kjell Någren, E. Idiman, D. Samuel, J. M. Perez Trullen, Y. van der Graaf, J. O. Thorell, M. J. M. Dupuis, E. Sieber, R. D'Alessandro, C. Cazzaniga, J. Faiss, A. Tanguy, A. Schick, I. Hoksergen, A. Cardozo, R. Shakarishvili, G. K. Wennlng, J. L. Marti-Vilalta, J. Weissenbach, I. L. Simone, Amalia C. Bruni, Darius J. Adams, C. Weiller, A. Pietrangeli, F. Croria, C. Vigo-Pelfrey, Patricia Limousin, A. Ducros, G. Conti, O. Lindvall, E. Richter, M. Zuffi, A. Nappo, T. Riise, J. Wijdenes, M. J. Fernandez, J. Rosell, P. Vermersh, S. Servidei, M. S. C. Verdugo, F. Gouttiere, W. Solbach, M. Malbezin, I. S. Watanabe, A. Tumac, W. I. McDonald, D. A. Butterfield, P. P. Costa, F. deRino, F. Bamonti, J. M. Cesar, C. H. Lahoz, I. Mosely, M. Starck, M. H. Lemaitre, K. M. Stephan, S. Tex, R. Bokonjic, I. Mollee, L. Pastena, M. Gutierrez, F. Boiler, M. C. Martinez-Para, M. Velicogna, O. Obuz, A. Grinspan, M. Guarino, L. M. Cartier, E. Ruiz, D. Gambi, S. Messina, M. Villa, Michael G. Hanna, J. Valk, Leone Pascual, M. Clanet, Z. Argov, B. Ryniewicz, E. Magni, B. Berlanga, K. S. Wong, C. Gellera, C. Prevost, F. Gonzalez-Huix, R. Petraroli, J. E. G. Benedikz, I. Kojder, C. Bommelaer, L. Perusse, M. R. Bangioanni, Guy M. McKhann, A. Molina, C. Fresquet, E. Sindern, Florence Pasquier, M. J. Rosas, M. Altieri, O. Simoncini, M. Koutroumanidis, C. A. F. Tulleken, M. Dary-Auriol, S. Oueslati, H. Kruyer, I. Nishisho, C. R. Horning, A. Vital, G. V. Czettritz, J. Ph. Neau, B. Mihout, A. Ameri, M. Francis, S. Quasthoff, D. Taussig, S. Blunt, P. Valentin, C. Y. Gao, O. Heinzlef, H. d'Allens, C. Coudero, M. Erfas, G. Borghero, P. J. Modrego Pardo, M. C. Patrosso, N. L. Gershfeld, P. A. J. M. Boon, O. Sabouraud, M. Lara, J. Svennevig, G. L. Lenzi, A. Barrio, H. Villaroya, JosÇ M. Manubens, O. Boespflug-Tanguy, M. Carreras, D. A. Costiga, J. P. Breux, S. Lynn, C. Oliveras Ley, A. G. Herbaut, J. Nos, C. Tornali, Y. A. Hekster, J. L. Chopard, J. M. Manubens, P. Chemouilli, A. Jovicic, F. Dworzak, S. Smirne, S. E. Soudain, B. Gallano, D. Lubach, G. Masullo, G. Izquierdo, A. Pascual Leone Pascual, A. Sessa, V. Freitas, O. Crambes, L. Ouss, G. W. Van Dijk, P. Marchettini, P. Confalonieri, M. Donaghy, A. Munnich, M. Corbo, and M. E. L. van der Burg

Subjects
Neurology, business.industry, Media studies, Library science, Medicine, Neurology (clinical), business
Published
1994

39. New therapeutic targets for amyotrophic lateral sclerosis

Author

Hubert Kwieciński and Magdalena Kuzma-Kozakiewicz

Subjects
Pathology, medicine.medical_specialty, Clinical Biochemistry, Bioinformatics, Oxidative damage, Neurotrophic factors, Drug Discovery, medicine, Animals, Humans, Molecular Targeted Therapy, Amyotrophic lateral sclerosis, RNA, Small Interfering, Pharmacology, RNA metabolism, Motor Neurons, Clinical Trials as Topic, business.industry, Amyotrophic Lateral Sclerosis, Oligonucleotides, Antisense, medicine.disease, Clinical trial, Disease Models, Animal, Nerve Degeneration, Motor neuron degeneration, Molecular Medicine, RNA Interference, Stem cell, business, Healthcare system, Signal Transduction, Stem Cell Transplantation
Abstract

Amyotrophic lateral sclerosis (ALS) is one of the most devastating neurological disorders, affecting approximately half a million people worldwide. Currently there is no cure or prevention for ALS. Although ALS is a rare condition, it places a tremendous socioeconomic burden on patients, family members, caregivers and health systems.The review examines the mechanisms that may contribute to motor neuron degeneration in ALS, among which oxidative damage, glutatamate excitoxicity, mitochondrial dysfunction, impaired axonal transport, apoptotic cell death, growth factor deficiency, glial cell pathology and abnormal RNA metabolism are potential targets for ALS treatment. The article provides an overview of clinical trials performed to date in attempts to treat ALS with regard to molecular mechanisms and pathways they act on. It also discusses new trials based on recently developed molecular biology techniques.Despite significant effectiveness of several potential therapeutics observed in preclinical trials, the results were not translatable to patients with ALS. The development of effective treatments of ALS strictly depends on understanding the primary cause of the disease. This goal will only be achieved when we identify the trigger point for motor neuron death in ALS.

Published
2010

40. Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445GA (Arg482Gln) in a Polish family

Author

Hubert Kwieciński, Irena Hausmanowa-Petrusewicz, Malgorzata Gawel, Krystyna Gospodarczyk-Szot, Hanna Drac, and Agnieszka Madej-Pilarczyk

Subjects
myalgia, Adult, medicine.medical_specialty, Heterozygote, DNA Mutational Analysis, Cushingoid, Gene mutation, Impaired glucose tolerance, LMNA, Insulin resistance, Internal medicine, medicine, Humans, Child, business.industry, medicine.disease, Familial partial lipodystrophy, Lamin Type A, Lipodystrophy, Familial Partial, Pedigree, Endocrinology, Phenotype, Adipose Tissue, Mutation, Surgery, Female, Neurology (clinical), medicine.symptom, Lipodystrophy, business
Abstract

Familial partial lipodystrophy (FPLD) belongs to the family of laminopathies - disorders associated with mutation in the lamin A/C gene (LMNA). FPLD is characterized by loss of subcutaneous adipose tissue from the limbs, trunk and buttocks, with its concomitant accumulation on the face, neck and intra-abdominal region, and by metabolic disorders. We present the first Polish family with FPLD confirmed genetically. A 34-year-old woman admitted with myalgia and cushingoid appearance was found to have a round face with double chin, neck bump, and loss of fat on extremities. Diagnostic tests revealed impaired glucose tolerance and increased levels of liver enzymes, and ultrasonography revealed hepatic steatosis. Her 9-year-old daughter presented a similar phenotype, but no fat loss. A genetic test revealed the presence of a heterozygous LMNA gene mutation: c.1445G>A, consistent with the "hot spot" for FPLD. Treatment with metformin to improve insulin resistance and address the diabetes proved successful.

Published
2010

41. The genetics of amyotrophic lateral sclerosis

Author

Magdalena, Kuźma-Kozakiewicz and Hubert, Kwieciński

Subjects
DNA-Binding Proteins, Superoxide Dismutase-1, Risk Factors, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Inheritance Patterns, Vesicular Transport Proteins, Humans, RNA-Binding Protein FUS, Genetic Predisposition to Disease
Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating disorder of still unknown aetiology and pathogenesis. It is characterized by a progressive and selective loss of motor neurons in the brain and spinal cord. The majority of ALS cases (90%) are sporadic and in approximately 10% the disorder is familial. In the light of recent studies, the familial forms might however be more frequent. The article describes mutations of genes linked to both sporadic and familial ALS and the role of the proteins they encode.

Published
2010

42. Matrix metalloproteinases and their tissue inhibitors in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

Author

Hubert Kwieciński, Irena Niebroj-Dobosz, Piotr Janik, and Beata Sokołowska

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Enzyme-Linked Immunosorbent Assay, Degeneration (medical), Matrix metalloproteinase, Severity of Illness Index, Pathogenesis, Cerebrospinal fluid, medicine, Humans, Zymography, Amyotrophic lateral sclerosis, Neuroinflammation, Aged, Tissue Inhibitor of Metalloproteinase-2, Tissue Inhibitor of Metalloproteinase-1, business.industry, Neurodegeneration, Amyotrophic Lateral Sclerosis, Tissue Inhibitor of Metalloproteinases, Middle Aged, medicine.disease, Matrix Metalloproteinases, Neurology, Matrix Metalloproteinase 9, Case-Control Studies, Matrix Metalloproteinase 2, Female, Neurology (clinical), Matrix Metalloproteinase 1, business
Abstract

Background and purpose: Matrix metalloproteinases (MMPs) are implicated in the pathogenesis of motor neuron degeneration in amyotrophic lateral sclerosis (ALS). We investigated the expression of MMPs and tissue inhibitors of matrix metalloproteinases (TIMPs) in serum and cerebrospinal fluid (CSF) correlating the results with age, disease duration and the clinical course. Methods: The material consisted of 30 ALS patients and 15 age-matched healthy controls. ELISA method to determine the expression of MT-MMP-1, MMP-2, MMP-9, TIMP-1 and TIMP-2 in serum and CSF was used. MMP-2 and MMP-9 by zymography was also tested. Results: In serum MT-MMP-1, MMP-2, MMP-9 and TIMP-1 expression was increased, especially in mild ALS cases. TIMP-2 values were normal. In CSF MT-MMP-1, MMP-2 and TIMP-1 level was either increased or normal, that of MMP-9 was decreased. TIMP-2 did not change. No correlation of MMPs and TIMP-1 expression in serum and CSF and the age of the patients was found. A correlation was observed between MMPs and TIMPs and disease duration. Conclusions: Increased level of MMPs and TIMP-1 of ALS patients may reflect the degeneration process of motor neurons and skeletal muscles and/or is associated with tissues remodeling. The low level of MMP-9 in CSF may result from impaired balance between MMP-9 and TIMP-1 and/or its increased intrathecal degradation and physical clearance. Although the role of changed MMPs/TIMPs level in the pathogenesis of ALS is not clear their analysis in serum may be used as prognostic factor and a potential marker for monitoring treatment effects.

Published
2009

43. Mitochondrial cytopathies: clinical, morphological and genetic characteristics

Author

Biruta, Kierdaszuk, Zygmunt, Jamrozik, Katarzyna, Tońska, Ewa, Bartnik, Magdalena, Kaliszewska, Anna, Kamińska, and Hubert, Kwieciński

Subjects
Adult, Male, Adolescent, Biopsy, DNA Mutational Analysis, Infant, Mitochondrial Myopathies, Middle Aged, DNA, Mitochondrial, Mitochondria, Muscle, Child, Preschool, Humans, Female, Poland, Child, Muscle, Skeletal, Aged, Retrospective Studies
Abstract

Mitochondrial cytopathies are heterogeneous disorders affecting multiple systems but most commonly involving the skeletal muscle and central nervous system. The variety of symptoms and signs requires biochemical, morphological and genetic evaluation. The results of genetic studies indicate that there is no direct correlation between genotype and phenotype in mitochondrial cytopathies. This study is the first such analysis of a group of Polish patients with mitochondrial cytopathies. Its aim is to define the clinical features of mitochondrial cytopathies in relation to their genetic defects.In a retrospective study, 46 patients with final diagnosis of mitochondrial cytopathy were evaluated clinically and electrophysiologically. Each patient underwent electromyography, electroneurography, and some patients were also assessed using electroencephalography. Clinical diagnoses were confirmed through the histopathological evaluation of muscle biopsies. In 36 cases mitochondrial DNA (mtDNA) testing was performed.Eight different clinical syndromes were diagnosed among the evaluated patients. In the skeletal muscle biopsy, ragged-red fibres, which are a significant symptom for these disorders, were present in the majority of cases (93%). The presence of specific gene mutations was confirmed in 9 out of the 36 cases in which mtDNA was examined.The results of our study confirm the remarkable clinical heterogeneity of mitochondrial cytopathies. Final diagnosis in many cases could only be confirmed by detection of the genetic defects. Molecular diagnosis may in the future have a significant impact on new therapeutic approaches.

Published
2009

44. Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients

Author

Aleksandra, Nadaj-Pakleza, Pascale, Richard, Anna, Lusakowska, Joanna, Gajewska, Zygmunt, Jamrozik, Anna, Kostera-Pruszczyk, Hubert, Kwieciński, and Anna, Kamińska

Subjects
Adult, Cell Nucleus, Male, Genotype, Electromyography, Biopsy, Intranuclear Inclusion Bodies, Mitochondrial Myopathies, Middle Aged, Poly(A)-Binding Protein I, Pedigree, Diagnosis, Differential, Phenotype, Muscular Dystrophy, Oculopharyngeal, Mutation, Humans, Female, Muscle, Skeletal, Aged
Abstract

Oculopharyngeal muscular dystrophy (OPMD) is mostly an autosomal dominant myopathic disorder, characterized by progressive bilateral ptosis, dysphagia and proximal muscle weakness, appearing usually in the fifth to sixth decade of life. The underlying cause of OPMD is an expanded GCG repeat in the first exon of the gene encoding poly (A)-binding protein nuclear 1 (PABPN1) localized on chromosome 14.q11.2-q13. The number of GCG expansion ranges from 8 to 13 repeats. PABPN1 is a nuclear multifunctional protein which is involved in transcription regulation and post-transcriptional processes.We report on clinical characteristics in 9 Polish patients with genetically confirmed OPMD.The expanded repeat ranged from (GCG)8 to (GCG)11. Ptosis and dysphagia were present in all examined cases. In 4 patients weakness of extraocular muscle was found and two of them experienced transient diplopia. Mild limb-girdle weakness was observed in 6 patients. Muscle biopsy performed in all cases showed myopathic changes with rare rimmed vacuoles. Strikingly, despite thorough examination on electron microscopy, intranuclear inclusions typical for OPMD were found only in one patient.Genetic testing is necessary to confirm the diagnosis of OPMD, especially in cases with ptosis and external ophthalmoparesis, which may be initially diagnosed as mitochondrial myopathy.

Published
2009

45. Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients

Author

Jarosław Sławek, Agnieszka Lugowska, Zygmunt Jamrozik, and Hubert Kwieciński

Subjects
Genetic Markers, Lewy Body Disease, Pathology, medicine.medical_specialty, Genotype, DNA Mutational Analysis, medicine.disease_cause, Progressive supranuclear palsy, Degenerative disease, Atrophy, Risk Factors, mental disorders, medicine, Corticobasal degeneration, Humans, Genetic Predisposition to Disease, Genetic Testing, Synucleinopathies, Mutation, Dementia with Lewy bodies, business.industry, Multiple System Atrophy, medicine.disease, nervous system diseases, Neurology, Glucosylceramidase, Lewy Bodies, Neurology (clinical), Poland, Supranuclear Palsy, Progressive, business, Neuroscience, Glucocerebrosidase
Abstract

Recently, mutations in the GBA gene coding for lysosomal beta-glucocerebrosidase have been found as a risk factor for Parkinson’s disease (PD) and Dementia with Lewy Bodies (DLB) [1–3]. These mutations seem to participate in the formation of Lewy bodies. PD and DLB have been classified as synucleinopathies; the third most common synucleinopathy are multisystem atrophies (MSA), which may share with PD and DLB at least part of the molecular pathogenesis. The incidence of mutations in the GBA gene in PD patients is variable and related to different populations studied, methods of DNA testing (sequencing versus looking for the most common mutations only), and different control groups. Lewy bodies were also found in some patients with tauopathies like Progressive Supranuclear Palsy (PSP) and corticobasal degeneration (CBD) [4–6]. Thus lysosomal dysfunction caused by GBA mutations may alter or disrupt the processing of the alphaor beta-synuclein [4]. To identify mutations in the GBA gene, genomic DNA was extracted from the white blood cells by standard techniques. A screening for mutations, p.L444P and p.N370S was performed in a group of 66 MSA patients (MSA-P = 34) and (MSA-C = 31), 34 PSP patients and in five cases of CBD. The patients were diagnosed at two movement disordered centers according to clinical criteria and the level of diagnosis (possible and probable) is shown in Table 1. PCR-RFLP methods were used as described earlier. Our results were compared to incidence of GBA mutations in other European populations and in PD/DLB patients [1–3]. None of the examined mutations in the GBA gene has been found in our cohort of patients with MSA, PSP and CBD. Although a limited number of our patients, and a less sensitive technique than direct sequencing [7], cannot completely rule out the possibility of increased frequency of p.L444P and p.N370S mutations in the beta-glucocerebrosidase gene (GBA), it seems rather unlikely that the incidence of these particular GBA mutations in MSA and PSP are compatible to their frequency in PD (about 4%) and DLB (from 4 to 23%), as reported in the literature [2, 8]. As yet, a total number of the published patients with MSA tested for GBA mutations are below the level of sensitivity because the incidence of the heterozygote state for the above mutations in European populations, excluding Scandinavia, is about 0.3%. Our results are also in agreement with those of neuropathologically confirmed MSA patients, published recently [9]. These results may indicate that PD and (DLB) have another pathway in formation of Lewy bodies than has MSA [10]. We also didn’t see differences between parkinsonian and cerebellar type of MSA. Moreover, we didn’t identify any GBA mutations in PSP and CBD patients. Z. Jamrozik (&) H. Kwiecinski Department of Neurology, Medical University of Warsaw, Warsaw, Poland e-mail: zjamrozik@amwaw.edu.pl

Published
2009

46. Tubulovesicular structures in human and experimental Creutzfeldt-Jakob disease

Author

Maria Barcikowska, Hubert Kwieciński, Pawel P. Liberski, Herbert Budka, and Elfriede Sluga

Subjects
Male, Pathology, medicine.medical_specialty, Prions, Epidemiology, business.industry, animal diseases, Bovine spongiform encephalopathy, Brain, Scrapie, Brain tissue, Middle Aged, medicine.disease, Virology, Synaptic vesicle, Creutzfeldt-Jakob Syndrome, nervous system diseases, Mice, Biological significance, mental disorders, Animals, Humans, Medicine, business, Infectious agent
Abstract

Tubulovesicular structures (TVS) have been consistently observed in brain tissue of animals with transmissible spongiform encephalopathies such as natural and experimental scrapie, bovine spongiform encephalopathy, and experimental Creutzfeldt-Jakob disease (CJD). In this communication we demonstrate for the first time the presence of TVS in natural CJD. TVS were detected in all 3 CJD specimens. However, they were rare and were found only in one or two locations per grid. They were seen in distended pre- and postsynaptic terminals and measured approximately 35 nm in diameter, and they were smaller and of higher electron density than synaptic vesicles. Their occurrence in all types of spongiform encephalopathies irrespective of the affected host and the strain of infectious agent emphasizes their biological significance.

Published
1991

47. [CADASIL syndrome - cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy]

Author

Dorota, Dziewulska and Hubert, Kwieciński

Subjects
Diagnosis, Differential, Receptors, Notch, Mood Disorders, Migraine Disorders, Humans, CADASIL, Dementia, Magnetic Resonance Imaging, Receptor, Notch3, Brain Ischemia
Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited neurodegenerative disease associated with mutations in the Notch 3 receptor on vascular smooth muscle cells. Clinically the syndrome is manifested as migraine, recurrent subcortical ischaemic events, dementia and mood disorders. CADASIL, considered one of the important causes of "subcortical vascular dementia", is relatively easy to overlook or misdiagnose if it is not taken into consideration in differential diagnosis. Diagnosis of CADASIL is established on the basis of results of skin biopsy and genetic examination. In this article we present a short review of the literature concerning pathogenesis and clinical presentation of the syndrome and provide recommendations for detection, diagnosis and management strategies.

Published
2008

48. Multi-minicore myopathy: a clinical and histopathological study of 17 cases

Author

Aleksandra, Nadaj-Pakleza, Anna, Fidziańska, Barbara, Ryniewicz, Anna, Kostera-Pruszczyk, Ana, Ferreiro, Hubert, Kwieciński, and Anna, Kamińska

Subjects
Lung Diseases, Male, Contracture, Adolescent, Muscular Diseases, Cardiovascular Diseases, Electromyography, Child, Preschool, Disease Progression, Humans, Female, Child, Muscle, Skeletal
Abstract

Multi-minicore disease (MmD) is a congenital myopathy morphologically defined by the multifocal lack of oxidative activity on light microscopy (LM) and multiple small zones of sarcomeric disorganization on electron microscopy (EM) as the main findings in muscle biopsy. We report on clinical and pathomorphological features of 17 patients diagnosed with multi-minicore myopathy at our department. Clinically, axial and proximal muscle weakness was the predominant distinguishing feature. Dysmorphic features such as high-arched palate and chest deformities were frequent findings. Limitation in cervical spine mobility was found in 4 cases. Most of our cases were slowly progressive but three fatal cases also occurred. Multifocal lack of oxidative activity was found in 16/22 biopsies on LM. Examination on EM enabled the final diagnosis of MmD in all cases. It is of special interest that in 3 patients fulfilling the criteria of pure congenital fibre type disproportion and in 2 cases of centronuclear myopathy, the findings of ultrastructural examination led us to a revised diagnosis of MmD. We postulate that all muscle biopsies with abnormal fibre proportion or centrally located nuclei as the only pathology on LM need to undergo careful EM evaluation to identify possible underlying multi-minicore disease.

Published
2007

50. Ischaemic stroke in patients with patent foramen ovale

Author

Bartłomiej, Piechowski-Jóźwiak and Hubert, Kwieciński

Subjects
Stroke, Treatment Outcome, Recurrence, Humans, Middle Aged, Heart Septal Defects, Atrial, Ultrasonography
Abstract

Patent foramen ovale (PFO) is one of the most common defects of the atrial septum. PFO can be linked to several brain disorders including stroke. PFO is more prevalent in young patients with cryptogenic stroke than in the general stroke population. Data from the literature do not indicate the role of PFO and/or atrial septal aneurysm in pathogenesis of first-ever and recurrent stroke. Antithrombotics seem to decrease the risk of stroke recurrence, but oral anticoagulants also increase the risk of haemorrhagic complications. Results of studies on percutaneous or surgical closure of PFO are insufficient to make clinical therapeutic decisions. Both the role of PFO in recurrent stroke as well as the most efficacious therapeutic approach in preventing recurrent strokes remain to be elucidated in further studies.

Published
2007

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