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1. Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

Author: V. Montano, P. Lopriore, F. Gruosso, V. Carelli, G. P. Comi, M. Filosto, C. Lamperti, T. Mongini, O. Musumeci, S. Servidei, P. Tonin, A. Toscano, G. Primiano, M. L. Valentino, S. Bortolani, S. Marchet, G. Ricci, A. Modenese, S. Cotti Piccinelli, B. Risi, M. Meneri, I. G. Arena, G. Siciliano, Michelangelo Mancuso, Montano V., Lopriore P., Gruosso F., Carelli V., Comi G.P., Filosto M., Lamperti C., Mongini T., Musumeci O., Servidei S., Tonin P., Toscano A., Primiano G., Valentino M.L., Bortolani S., Marchet S., Ricci G., Modenese A., Cotti Piccinelli S., Risi B., Meneri M., Arena I.G., Siciliano G., and Mancuso M.
Subjects: Ophthalmoplegia, Chronic Progressive External, Mitochondrial disorders, Time Factors, Ophthalmoplegia, Time Factor, Primary mitochondrial myopathy, Pain, Mitochondrial Myopathies, Walk Test, Walking, Outcome measures, Mitochondrial disorder, Follow-Up Studie, Outcome measure, Mitochondrial Myopathie, Neurology, 6MWT, Chronic Progressive External, Humans, Neurology (clinical), Fatigue, Follow-Up Studies, Human
Abstract: Objectives To assess natural history and 12-month change of a series of scales and functional outcome measures in a cohort of 117 patients with primary mitochondrial myopathy (PMM). Methods Twelve months follow-up data of 117 patients with PMM were collected. We analysed the 6-min walk test (6MWT), timed up-and-go test (× 3) (3TUG), five-times sit-to-stand test (5XSST), timed water swallow test (TWST), and test of masticating and swallowing solids (TOMASS) as functional outcome measures; the Fatigue Severity Scale and West Haven-Yale Multidimensional pain inventory as patient-reported outcome measures. PMM patients were divided into three phenotypic categories: mitochondrial myopathy (MiMy) without extraocular muscles involvement, pure chronic progressive external ophthalmoplegia (PEO) and PEO&MiMy. As 6MWT is recognized to have significant test–retest variability, we calculated MCID (minimal clinically important difference) as one third of baseline 6 min walking distance (6MWD) standard deviation. Results At 12-month follow-up, 3TUG, 5XSST and FSS were stable, while TWST and the perceived pain severity (WHYMPI) worsened. 6MWD significantly increased in the entire cohort, especially in the higher percentiles and in PEO patients, while was substantially stable in the lower percentile ( Conclusions PMM patients showed a slow global decline valued by NMDAS at 12 months; 6MWT was a more reliable measurement below 408 m, substantially stable at 12 months. PEO patients had better motor performance and lower NMDAS than PEO&MiMy and MiMy also at 12 months of follow-up.
Published: 2022

2. A mobile app for patients with Pompe disease and its possible clinical applications

Author: Tiziana Mongini, Massimiliano Filosto, G. Marrosu, Andrea Vianello, Gabriele Siciliano, Giovanni Antonini, Sigrid Baldanzi, Olimpia Musumeci, S. Servidei, Corrado Angelini, Giacomo P. Comi, Maurizio Moggio, Roberto Massa, Sabrina Ravaglia, Chiara Proietti, Silvia Peviani, Francesca Carlini, G. Di Iorio, Rocco Liguori, Lorenzo Maggi, Antonio Toscano, Elena Pegoraro, Giulia Ricci, Fabrizio Seidita, Ricci, Giulia, Baldanzi, Sigrid, Seidita, Fabrizio, Proietti, Chiara, Carlini, Francesca, Peviani, Silvia, Antonini, Giovanni, Vianello, Andrea, Siciliano, Gabriele, Italian GSD II group, and Liguori, Rocco
Subjects: Adult, Smart technology, Disease, Settore MED/26, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), medicine, e-Health, Glycogen storage disease type II, Pompe disease, Humans, 030212 general & internal medicine, Disease management (health), Everyday life, Glycogen Storage Disease Type II, Mobile Applications, Quality of Life, Self-Management, Genetics (clinical), Self-management, Adult patients, business.industry, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Mobile apps, Perinatology and Child Health, medicine.disease, glycogen storage disease type II, pompe disease, smart technology, pediatrics, perinatology and child health, neurology, neurology (clinical), genetics (clinical), Medical emergency, business, 030217 neurology & neurosurgery
Abstract: In recent years, the potential of smart technology to provide innovative solutions for disease management has raised high expectations for patients' and healthcare professionals' community. We developed a mobile app, called AIGkit, specifically designed for adult patients with Pompe disease, with the aim to help them manage the burden of illness-related factors, and also to provide clinicians with continuous tracking of each patient in real-time and ambient conditions of everyday life. We present the AIGkit as an innovative approach exploiting cutting-edge technology to improve quality of care and research into neuromuscular disorders.
Published: 2018

3. Nutritional support in mitochondrial diseases: the state of the art

Author: E, Rinninella, M, Pizzoferrato, M, Cintoni, S, Servidei, and M C, Mele
Subjects: personalised medicine, mitochondrial diseases, mitochondrial diseases, Thioctic Acid, Nutritional Support, Ubiquinone, Settore MED/09 - MEDICINA INTERNA, personalised medicine, Humans, Arginine, Deglutition Disorders, Diet, High-Fat, Energy Metabolism, Mitochondria
Abstract: Mitochondrial diseases are a group of rare multisystem disorders characterized by genetic heterogeneity and pleomorphic clinical manifestations. The clinical burden may be heavy for patients and their caregivers. There are no therapies of proven efficacy until now and a multidisciplinary supportive care is therefore necessary. Since the common pathogenic mechanism is the insufficient energy production by defective mitochondria, nutrition may play a crucial role. However, no guidelines are still available. The article reports the current evidence, highlighting nutrition both as support and as therapy. The estimate of nutritional status, energy needs and nutritional behaviors are firstly discussed. Then, we go in-depth on the scientific rationale and the clinical evidence of the use of anti-oxidants and enzyme-cofactors in the clinical practice. In particular, we analyze the role of Coenzyme Q10, Creatine monohydrate, α-lipoic acid, riboflavin, arginine and citrulline, folinic acid, carnitine, vitamin C, K, and E. Every attempt at nutritional intervention should be made knowing patient's disease and focusing on his/her energy and nutrients' requirements. For this reason, clinicians expert in mitochondrial medicine and clinical nutritionists should work together to ameliorate care in these fragile patients.
Published: 2018

4. Revisiting mitochondrial ocular myopathies: a study from the Italian Network

Author: Gabriele Siciliano, Olimpia Musumeci, Tiziana Mongini, Guido Primiano, Isabella Moroni, Corrado Angelini, Liliana Vercelli, Maurizio Moggio, Paola Tonin, Enrico Bertini, Simona Salvatore, S. Servidei, Massimo Zeviani, Daria Diodato, Claudio Bruno, M. Sciacco, Daniele Orsucci, Carlo Minetti, Luca Bello, E. Caldarazzo Ienco, Maria Lucia Valentino, Dario Ronchi, C. Lamperti, Massimiliano Filosto, Michelangelo Mancuso, Giacomo P. Comi, Anna Ardissone, Antonio Toscano, Anna Rubegni, Elena Pegoraro, Valerio Carelli, Antonio Federico, Filippo M. Santorelli, Orsucci, D, Angelini, C, Bertini, E, Carelli, V, Comi, G, Federico, A, Minetti, C, Moggio, M, Mongini, T, Santorelli, F, Servidei, S, Tonin, P, Ardissone, A, Bello, L, Bruno, C, Ienco, E, Diodato, D, Filosto, M, Lamperti, C, Moroni, I, Musumeci, O, Pegoraro, E, Primiano, G, Ronchi, D, Rubegni, A, Salvatore, S, Sciacco, M, Valentino, M, Vercelli, L, Toscano, A, Zeviani, M, Siciliano, G, Mancuso, M, Orsucci, D., Angelini, C., Bertini, E., Carelli, Valerio, Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. Caldarazzo, Diodato, D., Filosto, M., Lamperti, C., Moroni, I., Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, MARIA LUCIA, Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G., and Mancuso, M.
Subjects: 0301 basic medicine, Mitochondrial encephalomyopathy, Male, Pathology, Ophthalmoplegia, Chronic Progressive External, Neurology, CPEO, Mitochondrial disorders, Mitochondrial myopathy, mtDNA, PEO, GTP Phosphohydrolases, GTP Phosphohydrolase, 0302 clinical medicine, Retrospective Studie, Neurology (clinical), Age of Onset, Ophthalmoplegia, Mitochondrial disorder, Mitochondrial, DNA Polymerase gamma, Settore MED/26 - NEUROLOGIA, Phenotype, Italy, Female, Human, Adult, Mitochondrial DNA, medicine.medical_specialty, Mitochondrial disease, Genetic Association Studie, macromolecular substances, Biology, DNA, Mitochondrial, 03 medical and health sciences, Young Adult, medicine, Humans, Genetic Association Studies, Retrospective Studies, External ophthalmoplegia, technology, industry, and agriculture, Retrospective cohort study, DNA, medicine.disease, eye diseases, Mutation, 030104 developmental biology, Chronic Progressive External, Age of onset, 030217 neurology & neurosurgery
Abstract: Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this study is to better define the clinical phenotypes associated with ocular myopathy. This is a retrospective study on a large cohort from the database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”. We distinguished patients with ocular myopathy as part of a multisystem mitochondrial encephalomyopathy (PEO-encephalomyopathy), and then PEO with isolated ocular myopathy from PEO-plus when PEO was associated with additional features of multisystemic involvement. Ocular myopathy was the most common feature in our cohort of mitochondrial patients. Among the 722 patients with a definite genetic diagnosis, ocular myopathy was observed in 399 subjects (55.3%) and was positively associated with mtDNA single deletions and POLG mutations. Ocular myopathy as manifestation of a multisystem mitochondrial encephalomyopathy (PEO-encephalomyopathy, n=131) was linked to the m.3243A>G mutation, whereas the other “PEO” patients (n=268) were associated with mtDNA single deletion and Twinkle mutations. Increased lactate was associated with central neurological involvement. We then defined, among the PEO group, as “pure PEO” the patients with isolated ocular myopathy and “PEO-plus” those with ocular myopathy and other features of neuromuscular and multisystem involvement, excluding central nervous system. The male proportion was significantly lower in pure PEO than PEO-plus. This study reinforces the need for research on the role of gender in mitochondrial diseases. The phenotype definitions here revisited may contribute to a more homogeneous patient categorization, useful in future studies and clinical trials
Published: 2017

5. PLEC gene mutations cause familial disto-proximal myopathy and long QT syndrome mimicking mitochondrial disease

Author: Daniela Bernardo, Cristina Cuccagna, Massimiliano Mirabella, V. Muto, Marco Tartaglia, Cristina Sancricca, Guido Primiano, S. Servidei, M. Lucchini, and Donato Sauchelli
Subjects: Pathology, medicine.medical_specialty, business.industry, Mitochondrial disease, Long QT syndrome, Gene mutation, medicine.disease, Neurology, Proximal myopathy, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical)
Published: 2017
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6. Report on nationwide Italian collaborative network for muscle glycogen storage disorders

Author: Andrea Martinuzzi, Massimiliano Filosto, Claudio Bruno, Lorenzo Maggi, Gabriele Siciliano, Paola Tonin, Maurizio Moggio, Alice Donati, C. Angelini, Olimpia Musumeci, T. Mongini, S. Servidei, Bruno Bembi, and A. Toscano
Subjects: medicine.medical_specialty, Glycogen, business.industry, Collaborative network, Bioinformatics, chemistry.chemical_compound, Endocrinology, Neurology, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Genetics (clinical)
Published: 2017
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7. Single-fiber PCR in MELAS3243 patients: Correlations between intratissue distribution and phenotypic expression of the mtDNAA3243G genotype

Author: Manuela Papacci, Gabriella Silvestri, F. Odoardi, Pietro Attilio Tonali, Michele Rana, Anna Modoni, S. Servidei, and E. Paris
Subjects: Mitochondrial DNA, Adolescent, Genotype, media_common.quotation_subject, Muscle Fibers, Skeletal, Biology, MELAS syndrome, medicine.disease_cause, DNA, Mitochondrial, Polymerase Chain Reaction, Electron Transport Complex IV, Muscular Diseases, Seizures, MELAS Syndrome, medicine, Humans, Mass Screening, Point Mutation, Tissue Distribution, Myopathy, Genetics (clinical), media_common, Family Health, Genetics, Daughter, Mutation, Muscle biopsy, medicine.diagnostic_test, Muscles, Middle Aged, medicine.disease, Molecular biology, Nuclear DNA, Succinate Dehydrogenase, Phenotype, Dementia, Female, medicine.symptom, Polymorphism, Restriction Fragment Length
Abstract: We performed morphological, biochemical, and genetic studies, including single-fiber PCR (sf PCR), on muscle biopsies obtained from a mother and daughter with MELAS syndrome due to the A3243G transition of mitochondrial DNA (mtDNA). The severity of muscle involvement appeared quite distinct, in spite of the fact that both patients segregated similar mutant mtDNA levels on total muscle DNA. The daughter did not show any clinical muscle involvement: muscle biopsy revealed many ragged red fibers (RRFs) mostly positive for cytochrome-c oxidase (COX) activity. In contrast, her mother had developed a generalized myopathy without progressive external ophthalmoplegia (PEO), morphologically characterized by many COX-negative RRFs. Single-muscle fiber PCR demonstrated in both patients significantly higher percentages of wild-type mtDNA in normal fibers (daughter: 23.25 +/- 15.22; mother: 43.13 +/- 26.11) than in COX-positive RRFs (daughter: 11.25 +/- 5.22, P < 0.005; mother: 9.12 +/- 5.9, P < 0.001) and in COX-negative RRFs (daughter: 8.9 +/- 4.2, P < 0.001 mother: 4.8 +/- 2.8, P < 0.001). Wild-type mtDNA levels resulted higher also in COX-positive vs. COX-negative RRFs (daughter: P < 0.05; mother: P < 0.001). Our data confirm a direct correlation between A3243G levels and impairment of COX function at the single-muscle fiber level. Moreover, the evidence of a clinical myopathy in the patient with higher amounts of COX-negative RRFs bolsters the concept that a differential distribution of mutant mtDNAs at the cellular level may have effects on the clinical involvement of individual tissues. However, the occurrence of a similar morphological and biochemical muscle phenotype also in PEO(3243) patients suggests that other genetic factors involved in the interaction between mitochondrial and nuclear DNA, rather than the stochastic distribution of mtDNA genomes during embryogenesis, are primarily implicated in determining the various clinical expressions of the A3243G of mtDNA.
Published: 2000
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8. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number ofKpnI repeats at the 4q35 locus and clinical phenotype

Author: N. Piazzo, Enzo Ricci, P. Tonali, Fortunato Mangiola, Massimiliano Mirabella, Giuliana Galluzzi, Gabriella Silvestri, Luca Colantoni, Stefania Cacurri, S. Servidei, E. Vigneti, L. Felicetti, V. Pasceri, Giancarlo Deidda, and B. Merico
Subjects: Genetics, biology, EcoRI, Locus (genetics), medicine.disease, Phenotype, Neurology, DUX4, Genetic marker, Genotype, biology.protein, medicine, Facioscapulohumeral muscular dystrophy, Neurology (clinical), Muscular dystrophy
Abstract: Genotype analysis by using the p13E-11 probe and other 4q35 polymorphic markers was performed in 122 Italian facioscapulohumeral muscular dystrophy families and 230 normal controls. EcoRI-BlnI double digestion was routinely used to avoid the interference of small EcoRI fragments of 10qter origin that were found in 15% of the controls. An EcoRI fragment ranging between 10 and 28 kb that was resistant to BlnI digestion was detected in 114 of 122 families (93%) comprising 76 familial and 38 isolated cases. Among the unaffected individuals, 3 were somatic mosaics and 7, carrying an EcoRI fragment larger than 20 kb, could be rated as nonpenetrant gene carriers. In a cohort of 165 patients with facioscapulohumeral muscular dystrophy we found an inverse correlation between fragment size and clinical severity. A severe lower limb involvement was observed in 100% of patients with an EcoRI fragment size of 10 to 13 kb (1-2 KpnI repeats left), in 53% of patients with a fragment size of 16 to 20 kb (3-4 KpnI repeats left), and in 19% of patients with a fragment size larger than 21 kb (>4 KpnI repeats left). Our results confirm that the size of the fragment is a major factor in determining the facioscapulohumeral muscular dystrophy phenotype and that it has an impact on clinical prognosis and genetic counseling of the disease.
Published: 1999
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9. Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease

Author: B Brambati, Fortunato Mangiola, N. Piazzo, S. Servidei, Luca Colantoni, Pietro Attilio Tonali, B. Merico, E. Vigneti, A Pachı̀, Giancarlo Deidda, L. Felicetti, Giuliana Galluzzi, Stefania Cacurri, and Enzo Ricci
Subjects: Male, Genotype, EcoRI, Genetic Counseling, Prenatal diagnosis, Locus (genetics), Disease, Muscular Dystrophies, Pregnancy, Prenatal Diagnosis, medicine, Humans, Facioscapulohumeral muscular dystrophy, In Situ Hybridization, Fluorescence, Genetics (clinical), Family Health, Gene Rearrangement, Genetics, biology, Haplotype, DNA, medicine.disease, Electrophoresis, Gel, Pulsed-Field, Pedigree, medicine.anatomical_structure, Neurology, Genetic marker, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Chorionic villi, Female, Neurology (clinical), Chromosomes, Human, Pair 4
Abstract: In the majority of facioscapulohumeral muscular dystrophy (FSHD) families (about 95%) the genetic defect has been identified as a deletion of a variable number of KpnI repeats in the 4q35 region, although no specific transcripts from this locus have been isolated so far. Molecular diagnosis is based on the detection by probe p13E–11 of EcoRI small fragments, in the range 10–28 kb, that are resistant to BlnI digestion. In family studies this probe is used with other 4q35 polymorphic markers to assign the haplotype associated with the disease. So far, we performed DNA analysis in 145 FSHD families and identified the 4q35 DNA rearrangement not only in affected individuals, but also in healthy subjects at risk of transmitting the disease, such as non-penetrant gene carriers and somatic mosaics. In addition we applied prenatal tests to 19 fetuses, using DNA extracted from chorionic villi samples (CVS) at 10–11 weeks of gestation. The FSHD status, as determined by the presence of BlnI-resistant small fragments associated with the at risk haplotype, was assessed in nine fetuses; in the remaining 10 cases the disease was excluded. Our results show that molecular analysis of 4q35 rearrangements is a reliable indirect method to perform diagnostic, predictive and prenatal tests in FSHD.
Published: 1999
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10. Laminin 2 muscular dystrophy: Genotype/phenotype studies of 22 patients

Author: F. Martinello, R. L. Munk, Pedro Mancias, G. Hoganson, Carlo P. Trevisan, Mena Scavina, Thomas O. Crawford, A. Stella, Virginia H. Carver, Tulio E. Bertorini, E P Hoffman, C. E. Thompson, Carlos A. Garcia, Marina Fanin, R. A. Zimmerman, Elena Pegoraro, C. Angelini, S. Servidei, D. Gagnon, Harold G. Marks, C. C. Bönnemann, Gyula Acsadi, and Anne M. Connolly
Subjects: Mutation, Pathology, medicine.medical_specialty, biology, Integrin, Gene mutation, Muscle disorder, medicine.disease, medicine.disease_cause, Laminin, Genotype, Congenital muscular dystrophy, medicine, biology.protein, Neurology (clinical), Muscular dystrophy
Abstract: Objective: To determine the number of primary laminin α2 gene mutations and to conduct genotype/phenotype correlation in a cohort of lamininα2-deficient congenital muscular dystrophy patients. Background: Congenital muscular dystrophies (CMD) are a heterogenous group of muscle disorders characterized by early onset muscular dystrophy and a variable involvement of the CNS. Laminin α2 deficiency has been reported in about 40 to 50% of cases of the occidental, classic type of CMD. 1,2 Laminin α2 is a muscle specific isoform of laminin localized to the basal lamina of muscle fibers, where it is thought to interact with myofiber membrane receptor, such as integrins, and possibly dystrophin-associated glycoproteins. 3,4 Methods: Seventy-five CMD patients were tested for laminin α2 expression by immunofluorescence and immunoblot. The entire 10 kb laminin α2 coding sequence of 22 completely laminin α2-deficient patients was screened for causative mutations by reverse transcription (RT)-PCR/single strand conformational polymorphisms (SSCP) analysis and protein truncation test(PTT) analysis followed by automatic sequencing of patient cDNA. Clinical data from the laminin α2-deficient patients were collected. Results: Thirty laminin α2-negative patients were identified (40% of CMD patients tested) and 22 of them were screened for laminin α2 mutations. Clinical features of laminin α2-deficient patients were similar, with severe floppiness at birth, delay in achievement of motor milestones, and MRI findings of white matter changes with normal intelligence. Loss-of-function mutations were identified in 95% (21/22) of the patients studied. SSCP analysis detected laminin α2 gene mutations in about 50% of the mutant chromosomes; PTT successfully identified 75% of the mutations. A two base pair deletion mutation at position 2,096-2,097 bp was present in 23% of the patients analyzed. Conclusions: Our data suggest that the large majority of laminin α2-deficient patients show laminin α2 gene mutations.
Published: 1998
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11. A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene

Author: Gabriella Silvestri, A. Dimuzio, Pietro Attilio Tonali, Antonino Uncini, S. Servidei, and Michele Rana
Subjects: Male, Proband, Mitochondrial DNA, Biology, DNA, Mitochondrial, Polymerase Chain Reaction, Electron Transport Complex IV, Mitochondrial myopathy, medicine, Humans, Point Mutation, Cytochrome c oxidase, Muscle, Skeletal, Gene, Genetics (clinical), Aged, Genetics, Electromyography, Point mutation, Mitochondrial Myopathies, RNA, Transfer, Trp, medicine.disease, Molecular biology, Pedigree, Neurology, Pediatrics, Perinatology and Child Health, Transfer RNA, biology.protein, Neurology (clinical), Restriction fragment length polymorphism, Polymorphism, Restriction Fragment Length
Abstract: We detected a novel pathogenic mutation, a G-->A transition at position 5521 of mitochondrial tRNA(Trp) gene, in association with familial late-onset mitochondrial myopathy. The mutation was detected in muscle but not in leukocytes from the family's proband. Morphological and biochemical studies documented a severe defect of muscle cytochrome c oxidase (COX) activity. RFLP analysis of single muscle fibers demonstrated segregation of higher percentages of mutated genomes in COX-negative ragged red fibres compared with normal fibers. A predominant impairment in synthesis of subunits I and III of complex IV due to their highest relative content of tryptophane might explain the greater susceptibility of complex IV to the pathogenic effect of this mutation. A progressive accumulation of mutated genomes in muscle can account for the late onset of symptoms observed in affected members.
Published: 1998
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12. Abstract

Author: L. J. Andries, S. U. Sys, A. L. Meulemans, J. A. J. Schuurkes, B. Vanheel, J. Van de Voorde, P. De Smet, J. Li, W. Van Driessche, B. Flamion, S. Foulon, M. Abramow, P. Calders, W. Eechaute, E. Lacroix, I. Weyne, D. Hoeben, C. Burvenich, P. Fransen, D. Van Bedaf, M. Demolder, R. Ouedraogo, P. Lebrun, A. Herchuelz, M. -H. Antoine, S. Vandenput, D. Votion, N. Anciaux, D. H. Duvivier, T. Art, P. Lekeux, Y. Ghafir, M. Geurts, E. Hermans, J. -M. Maloteaux, B. Perrad, B. Noel, F. Lagache, J. L. Bister, R. Paquay, G. Derycke, M. A. Vandermeir, S. de Brouwer, C. -A. Porret, N. Stergiopulos, J. -J. Meister, M. Verbeke, N. Lameire, N. M. De Clerck, J. De Schuytter, J. Tytgato, G. Buyse, J. Eggermont, G. Droogmans, B. Nilius, P. Daenens, S. Salomone, O. Feron, C. Dessy, N. Morel, T. Godfraind, A. M. Aloisi, P. Sacerdote, L. Lodi, G. Carli, C. Carobi, G. Garinei, U. C. Miniaci, P. Scotto, M. Sabatino, P. Sardo, L. Iurato, V. La Grutta, M. A. Bagni, G. Cecchi, E. Cecchini, F. Colomo, P. Garzella, R. Bottinelli, S. D. H. Harridge, M. Canepari, C. Reggiani, Saltin Reggiani, D. Bambagioni, G. Fanò, G, Menchetti, P. Danieli-Betto, A. Esposito, R. Betto, A. Megighian, M. Midrio, D. Danieli Betto, C. Orizio, D. Liberati, C. Locatelli, D. De Grandis, A. Veicsteinas, D. Angoli, D. Delia, E. Wanke, M. Bramucci, A. Miano, L. Quassinti, E. Maccari, O. Murri, D. Amici, G. Cibelli, S. Jüngling, S. Schoch, H. H. Gerdest, G. Thiel, I. Demori, C. Bottazzi, A. Voci, E. Fugassa, A. Barreca, F. Minuto, G. Gallo, S. Fulle, S. Belia, G. Menchetti, M. Cacchio, G. Gastaldi, U. Laforenza, G. Ferrari, G. Rindi, M. G. Doni, E. Padoin, O. Residori, M. Cesaro, L. Toma, A. Rubini, F Mutinelli, L. Paulesu, R. Romagnolie, M. Cintorino, P. Pippia, M. A. Meloni, L. Sciola, A. Spano, M. Cogoli-Greuter, A. Cogoli, A. Sardini, G. M. Mintenig, M. A. Valverde, F. V. Sepùlveda, D. R. Gill, S. C. Hyde, C. F. Higgins, P. A. McNaughton, A. Spena, M. T. Arcuri, S. Bonofiglio, R. Chimenti, C. Covello, T. De Cicco, S. Mazzulla, G. Martino, A. Tottene, A. Moretti, D. Pietrobon, M. C. Baccari, F. Calamai, G. Staderini, E. Cova, R. Marelli, P. Sommi, U. Ventura, A. M. Lombardi, R. Fabris, C. Pagano, G. Federspil, R. Vettor, R. Mancinelli, P. Tonali, S. Servidei, R. Romani, A. Tringali, G. B. Azzena, F. Mulè, R. Serio, A. Postorino, M. Rizzato, M. Granzotto, V. Ricci, M. Romano, K. J. Ivey, G. Vacca, B. Papillo, D. A. S. G. Mary, A. Battaglia, E. Grossini, E. A. Accili, G. Redaelli, D. DiFrancesco, S. Antoniotti, C. Distasi, D. Lovisolo, L. Munaron, F. Bertaso, R. Assandri, M. Mazzanti, L. Bianchi, A. Arcangeli, L. Faravelli, A. Becchetti, M. Coronello, E. Mini, F. Francini, M. Olivotto, A. Bigiani, D. -J. Kim, S. D. Roper, V. Carabelli, M. Lovallo, V. Magnelli, H. Zucker, E. Carbone, E. D’Angelo, P. Rossi, G. De Filippi, V. Taglietti, C. Bencini, R. Squecco, E. Guatteo, A. Bacci, S. Franceschetti, G. Avanzini, A. Ferroni, A. Navangione, V. Vellani, G. Rispoli, A. Peres, E. Centinaio, S. Giovannardi, G. Russo, W. Marcotti, I. Prigioni, C. Trequattrini, A. A. Harper, A. Petris, F. Franciolini, A. Zaza, M. Micheletti, A. Brioschi, G. Antonutto, C. Capelli, M. Girardis, P. Zamparo, P. E. di Prampero, D. Tuniz, G. M. Filippi, D. Troiani, B. Grassi, D. C. Poole, R. S. Richardson, D. R. Knight, B. K. Erickson, P. D. Wagner, B. Aimi, D. Stilli, P. Gallo, A. Sgoifo, C. Lagrasta, G. Olivetti, N. Reali, A. Casti, E. Musso, G. Alloatti, C. Penna, M. P. Gallo, R. C. Levi, I. Fenoglio, G. Appendino, D. Medici, M. Manghi, E. Pasini, C. Ceconi, F. Baldissera, P. Cavallari, M. Locatelli, R. Bartesaghi, T. Gessi, F. Benfenati, F. Valtorta, F. Onofri, M. Poo, P. Greengard, G. Biagini, D. Sala, P. Viani§, A. V. Kozlov, I. Zini, M. Bravin, F. Tempia, P. Strata, G. Brescia, C. Di Benedetto, P. Corsi, G. Cangiano, M. Buttiglione, M. Ambrosini, G. Gennarini, A. Casadio, P. G. Montarolo, P. Cesare, R. Stoughton, G. D’Arcangelo, H. U. Dodt, A. Brancati, W. Zieglgänsberger, P. Errico, A. Ferraresi, N. H. Barmack, V. E. Pettorossi, S. Gasparini, R. D’Ambrosio, D. Janigro, I. Gritti, M. Marintti, R. Calcaterra, R. Freddi, M. Mancia, I. Imeri, S. Bianchi, F. Lui, K. M. Gregory, R. H. I. Blanks, R. A. Giolli, C. Benassi, R. Corazza, P. C. Magherini, R. Bardoni, O. Belluzzi, E. Manni, M. Diana, W. Fratta, D. Manzoni, P. Andre, O. Pompeiano, R. Mazzocchio, A. Rossi, F. Melis, A. Kitura, M. A. Caria, H. Asanuma, M Melone, S De Biasi, A Minelli, F Conti, C Karschin, S DeBiasi, N C Brecha, M. Monda, S. Amaro, A. Sullo, B. De Luca, M. R. Pantò, F. Cicirata, R. Parenti, M. F. Serapide, M. Wassef, M. V. Podda, A. Solinas, G. Chessa, F. Deriu, O. Mameli, E. Tolu, C. A. Porro, M. P. Francescato, V. Cettolo, M. E. Diamond, P. Baraldi, M. Bazzocchi, R. Rivosecchi, A. Konnerth, M. L. Rossi, M. Martini, B. Pelucchi, R. Fesce, L. Santarelli, S. Schacher, R. Santarelli, C. Grassi, A. Valente, S. Nisticò, G. Bagetta, Rossana Scuri, Mercedes Garcia-Gil, Riccardo Mozzachiodi, Marcello Brunelli, G. Stefani, P. Vaccaro, H. B. Nielander, V. Tancredi, M. D’Antuono, A. Siniscalchi, M. Avoli, L. Verzè, A. Buffo, F. Rossi, A. B. Oestreicher, W. H. Gispen, G. Zamboni, R. Amici, C. A. Jones, E. Perez, R. Domeniconi, P. L. Parmeggiani, Michele Zoli, Nicolas Le Novàre, Jean -Pierre Changeux, C. L. Lafortuna, E. Reinach, F. Saibene, L. Zocchi, E. Agostoni, and D. Cremaschi
Subjects: Physiology, Physiology (medical), Clinical Biochemistry
Published: 1996
Full Text: View/download PDF

13. 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. 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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. 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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
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14. MHC class I, MHC class II and intercellular adhesion molecule-1 (ICAM-1) expression in inflammatory myopathies

Author: Aldobrando Broccolini, Emanuela Bartoccioni, Flavia Scuderi, S. Gallucci, Enzo Ricci, S. Servidei, and Pietro Attilio Tonali
Subjects: Antigens, Differentiation, T-Lymphocyte, Pathology, medicine.medical_specialty, Immunology, Intercellular Adhesion Molecule-1, Major histocompatibility complex, Polymyositis, Dermatomyositis, Antigen, Antigens, CD, MHC class I, medicine, Humans, Immunology and Allergy, MHC class II, Myositis, biology, Cell adhesion molecule, Muscles, Histocompatibility Antigens Class I, Histocompatibility Antigens Class II, medicine.disease, CD56 Antigen, biology.protein, Inclusion body myositis, Cell Adhesion Molecules, Research Article
Abstract: SUMMARYWe investigated the relationship between the MHC-I, MHC-II and intercellular adhesion molecule-1 (ICAM-1) expression on myofibres and the presence of inflammatory cells in muscle specimens of 18 patients with inflammatory myopathies (nine polymyositis, seven dermatomyositis, two inclusion body myositis). We observed MHC-I expression in muscle fibres, infiltrating mononuclear cells and endothelial cells in every specimen. In seven patients, some muscle fibres were MHC-II-positive for the DR antigen, while the DP and DQ antigens were absent. ICAM-1 expression, detected in seven patients, was found in clusters of myofibres, associated with a marked MHC-1 positivity and a widespread mononuclear infiltration. Most of the ICAM-1-positive fibres were regenerating fibres. Furthermore, some fibres expressed both ICAM-I and DR antigens near infiltrating cells. This finding could support the hypothesis that myofibres may themselves be the site of autosensitization.
Published: 1994
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15. Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments

Author: M. G. Gagliardi, Cesare Bosman, Renata Boldrini, M. Bevilacqua, Enzo Ricci, F. Del Nonno, S. Servidei, Enrico Bertini, and Giovanni Salviati
Subjects: Pathology, medicine.medical_specialty, Cardiomyopathy, Myosins, Biology, Pathology and Forensic Medicine, Myosin Type I, Muscular Diseases, Myosin, medicine, Humans, Child, Myopathy, Molecular Biology, Muscle biopsy, Myosin Heavy Chains, medicine.diagnostic_test, Muscles, Hypertrophic cardiomyopathy, Proteins, Skeletal muscle, Cell Biology, General Medicine, Cardiomyopathy, Hypertrophic, medicine.disease, Microscopy, Electron, medicine.anatomical_structure, Calmodulin-Binding Proteins, Female, MYH7, medicine.symptom, Myofibril
Abstract: We present a undescribed condition in a girl who died at 8 years of hypertrophic cardiomyopathy. Muscle and endomyocardial biopsies disclosed a selective loss of thick filaments ultrastructurally. In muscle biopsy histochemical abnormalities of myofibrillar AT-Pase were confined to type 1 fibres. Gel electrophoresis of muscle homogenate showed no qualitative abnormalities of slow and fast myosin heavy chains (MHC) and light chains, and the amount of the different myosin isozymes was in agreement with histochemical myofibrillar ATPase findings. The pathogenetic mechanisms have not been elucidated in this case but we suspect an abnormality of the beta-cardiac MHC gene, the only gene expressed in the heart and in type 1 skeletal muscle fibres.
Published: 1993
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16. Giant axonal neuropathy: report on a case with focal fiber loss

Author: S. Servidei, Enrico Bertini, Eduardo Fernandez, Mario Sabatelli, S. Magi, and P.A. Tonali
Subjects: Male, Ataxia, Neurofilament, Intermediate Filaments, Progressive polyneuropathy, Sural nerve biopsy, Axonal polyneuropathy, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Nerve Fibers, Sural Nerve, medicine, Humans, Giant axonal neuropathy, business.industry, Anatomy, medicine.disease, Pyramidal signs, Axons, Electrophysiology, Microscopy, Electron, nervous system, Child, Preschool, Neurology (clinical), Nervous System Diseases, medicine.symptom, business
Abstract: We report on a 5 1/2 year-old boy with chronic progressive polyneuropathy, ataxia, and pyramidal signs. His hair was not curled. Sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.
Published: 1992
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17. Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

Author: Yusuf A. Rajabally, Barbara Castellotti, Marina Frontali, Sara Caimi, Cinzia Gellera, Caterina Mariotti, Silvia Romano, D. Testa, Marianna Bugiani, Maria J Garcìa Barcina, Margherita Estienne, Elide Mantuano, Liana Veneziano, Giovanna Zorzi, Aurora Panico, and S. Servidei
Subjects: Adult, Male, Ataxia, Adolescent, DNA Mutational Analysis, EA2, CACNB4, Gene mutation, Settore MED/03 - GENETICA MEDICA, CACNA1A, medicine.disease_cause, Episodic ataxia, Young Adult, ea2, acetazolamide, paroxysmal torticollis, cacna1a, episodic ataxia, calcium channel, medicine, Missense mutation, Humans, Child, Aged, Genetics, Mutation, biology, Cerebellar ataxia, Models, Genetic, business.industry, Autosomal dominant trait, Infant, Middle Aged, medicine.disease, Acetazolamide, Settore MED/26 - NEUROLOGIA, Phenotype, Neurology, Calcium channel, Child, Preschool, biology.protein, Female, Neurology (clinical), Calcium Channels, medicine.symptom, business
Abstract: Episodic ataxia type 2 is a rare autosomal dominant disease characterized by recurrent attacks of vertigo and cerebellar ataxia. The disease was caused by mutations in the CACNA1A gene, on chromosome 19p. We perform a mutational screening in a group of 43 unrelated patients. Forty-two patients presented episodes of disequilibrium and ataxia, and one child was studied because of the occurrence of episodic torticollis. The genetic analysis showed 15 mutated patients (35%). In 13 cases we found novel CACNA1A gene mutations, including missense, protein truncating, and aberrant splicing mutations. Two truncating mutations lead to the uppermost premature stop so far reported, challenging recent hypotheses on dominant negative effect. In patients without CACNA1A mutations, molecular testing for CACNB4 gene mutations excluded this genetic subtype. Clinical features of mutated subjects mostly confirmed previous sign and symptoms associated with EA2, including paroxysmal torticollis and mental retardation. CACNA1A mutated patients have an earlier age at onset, interictal nystagmus, and abnormalities of ocular movements. A review of all CACNA1A mutations so far reported showed that they are mainly located downstream exon 18. Our data substantially increase the number of the described CACNA1A mutations, and propose clinical and molecular criteria for a more focused genetic screening.
Published: 2009
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18. Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement

Author: M.V. De Angelis, A. Di Muzio, Giuliana Galluzzi, Antonino Uncini, Enzo Ricci, C. Scoppetta, and S. Servidei
Subjects: Adult, Male, Weakness, Shoulder, Tomography Scanners, X-Ray Computed, DNA Mutational Analysis, Atrophy, medicine, Facioscapulohumeral muscular dystrophy, Humans, Wasting, Creatine Kinase, Genetics (clinical), Muscle contracture, Chromosome Aberrations, Neurologic Examination, Leg, Muscle biopsy, medicine.diagnostic_test, biology, business.industry, Electromyography, Anatomy, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Radiography, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Creatine kinase, Female, Neurology (clinical), medicine.symptom, Presentation (obstetrics), Chromosomes, Human, Pair 4, business
Abstract: Facioscapulohumeral muscular dystrophy has a distinctive regional distribution but variable clinical expression and may be markedly asymmetrical. We report two patients presenting weakness and wasting confined to a single lower limb. Creatine kinase was slightly increased, electromyogram and muscle biopsy were myopathic. Muscle computed tomography showed normal shoulder, mid-arm, pelvic and mid-thigh scans but involvement of calf muscles. In both cases, weakness of facial and periscapular muscles was found in other family members unaware of the disease. Molecular analysis showed 4q35 deletion in one family. These cases broaden the presentation of facioscapulohumeral muscular dystrophy to include isolated monomelic atrophy of lower limb with calf muscle involvement.
Published: 2002

19. Apoptosis and Oxidative Stress in Mitochondrial Disorders

Author: S. Di Giovanni, Adele D'Amico, Gabriella Silvestri, Massimiliano Mirabella, S. Servidei, and A. Broccolini
Subjects: Genetics, Mitochondrial DNA, Mitochondrial permeability transition pore, Mitochondrial disease, Point mutation, Structural gene, Transfer RNA, medicine, Biology, medicine.disease, medicine.disease_cause, Mitochondrial Encephalomyopathies, Oxidative stress
Abstract: Mitochondrial encephalomyopathies are clinically heterogeneous disorders under the genetic control of mitochondrial or nuclear DNAs. Since 1988 many qualitative (about one hundred point mutations of tRNA or structural genes and various mtDNA rearrangements) and quantitative (depletion) defects of mtDNA have been associated with an increasing number of inherited or sporadic mitochondrial encephalomyopathies [1, 2]. In sharp contrast with the rapid progress of our knowledge on the molecular genetic defects, the pathogenic mechanisms that lead to the wide biochemical and clinical variability are still far from been elucitated.
Published: 2002
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20. Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies

Author: Gabriella Silvestri, S. Servidei, Manuela Papacci, F. Odoardi, Di Giovanni S, and Massimiliano Mirabella
Subjects: Adult, Male, Mitochondrial disease, Biopsy, Muscle Fibers, Skeletal, Respiratory chain, Cytochrome-c Oxidase Deficiency, Apoptosis, DNA Fragmentation, Biology, medicine.disease_cause, Electron Transport Complex IV, Cellular and Molecular Neuroscience, Mitochondrial Encephalomyopathies, medicine, In Situ Nick-End Labeling, Cytochrome c oxidase, Humans, fas Receptor, Child, Muscle, Skeletal, Molecular Biology, Aged, Glutathione Peroxidase, Caspase 3, Superoxide Dismutase, Caspase 1, Infant, Newborn, Muscle weakness, Infant, Cell Biology, Middle Aged, medicine.disease, Molecular biology, Microscopy, Electron, Caspases, Child, Preschool, biology.protein, Female, medicine.symptom, Reactive Oxygen Species, Immunostaining, Oxidative stress
Abstract: The aim of this work was to investigate in muscle the role of apoptosis and of oxidative stress in mitochondrial disorders with dysfunction of respiratory chain. In patients with cytochrome c oxidase deficiency (COX) we found a variable number of myofibers with apoptotic nuclei that matched with the level of enzymatic reduction and roughly correlated with muscle weakness. In parallel, a positive immunostaining for apoptosis-related proteins and Mn and Cu/Zn superoxide dismutase (SOD) were mostly localized in COX-negative fibers. Moreover, glutathione peroxidase activity was increased in muscles with high number of SOD-positive myofibers and prominent apoptotic features. No signs of apoptosis were observed in patients with deficiencies of complexes I and II and without muscle weakness. These data suggest that apoptosis along with increased ROS production, revealed by anti-oxidant enzymes overexpression, may play an important role in the pathophysiology of mitochondrial diseases associated with COX deficiency.
Published: 2001

21. An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1

Author: S. Servidei, Kyproula Christodoulou, Massimiliano Mirabella, Enzo Ricci, Pietro Attilio Tonali, and S. Di Giovanni
Subjects: Pathology, medicine.medical_specialty, Genetic Linkage, education, Genes, Recessive, Dermatology, Biology, Myositis, Inclusion Body, Proximal myopathy, medicine, Humans, Myopathy, Muscle, Skeletal, Genetics, Leg, Muscle biopsy, medicine.diagnostic_test, Haplotype, Rimmed vacuoles, Chromosome, General Medicine, Middle Aged, Pedigree, Psychiatry and Mental health, Inclusion body myopathy, Microscopy, Electron, Italy, Distal Myopathies, Arm, Female, Neurology (clinical), medicine.symptom, Lod Score, Chromosomes, Human, Pair 9
Abstract: We report an Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM). The patients (two second cousins) developed a slowly progressive distal and proximal myopathy with complete sparing of the quadriceps. Muscle biopsy showed rimmed vacuoles in numerous muscle fibers, and electron microscopy documented accumulation of 15-21 nm filaments. DNA analysis established linkage to 9p1 and haplotype analysis revealed that the patients shared a recombined common haplotype. The gene locus of ARQS-IBM was initially mapped to chromosome 9p1-q1 in families of Iranian-Jewish origin and later confirmed in a few other ethnic groups. This is the first report of Italian patients with ARQS-IBM showing positive linkage to chromosome 9p1. Our data suggest that patients having distal and proximal myopathy with rimmed vacuoles and possible recessive inheritance, often classified as distal myopathies, should be thoroughly investigated according to the diagnostic criteria of h-IBM and, when positive, studied for linkage to chromosome 9p1.
Published: 2000

22. Mitochondrial encephalomyopathies: gene mutation. Vol. 10 No. 2, February 2000

Author: S, Servidei
Subjects: Mitochondrial Encephalomyopathies, Mutation, Humans
Published: 2000

23. A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency

Author: Carlo Doriguzzi, Laura Palmucci, Gabriella Silvestri, Tiziana Mongini, P.A. Tonali, F. Odoardi, G. deRosa, Anna Modoni, and S. Servidei
Subjects: Adult, Mitochondrial DNA, Biopsy, Hearing Loss, Sensorineural, DNA Mutational Analysis, Mutant, Respiratory chain, Cytochrome-c Oxidase Deficiency, mitochondrial encephalomyopathy, Mitochondrion, medicine.disease_cause, DNA, Mitochondrial, Fatal Outcome, Mitochondrial Encephalomyopathies, medicine, Humans, Point Mutation, Spinocerebellar Ataxias, Cytochrome c oxidase, Muscle, Skeletal, Genetics, Mutation, biology, Transition (genetics), tRNA(Trp), RNA, Transfer, Trp, medicine.disease, Mitochondria, Muscle, Settore MED/26 - NEUROLOGIA, Disease Progression, Spinocerebellar ataxia, biology.protein, Dementia, Female, Neurology (clinical)
Abstract: The authors describe a novel pathogenic G5540A transition in the mitochondrial transfer RNA (tRNA)Trp gene of a sporadic encephalomyopathy characterized by spinocerebellar ataxia. Clinical features also included neurosensorial deafness, peripheral neuropathy, and dementia. Biochemistry revealed a severe reduction of cytochrome c oxidase (COX) activity. Single-fiber PCR demonstrated higher levels of mutant genomes in COX-negative ragged red fibers than in normal fibers. These findings confirm that COX is more susceptible than other respiratory chain complexes to mutations in the mitochondrial tRNATrp gene.
Published: 2000

24. Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism

Author: Gabriella Silvestri, Pietro Attilio Tonali, Massimiliano Mirabella, S. Di Giovanni, and S. Servidei
Subjects: Adult, Male, Mitochondrial DNA, Adolescent, Mitochondrial translation, Mitochondrial disease, Apoptosis, Biology, Human mitochondrial genetics, DNA, Mitochondrial, Mitochondrial myopathy, Mitochondrial Encephalomyopathies, medicine, MELAS Syndrome, Humans, Point Mutation, Child, Muscle, Skeletal, Aged, Sequence Deletion, Genetics, Inclusion Bodies, Middle Aged, medicine.disease, MERRF Syndrome, Cell biology, Mitochondria, mitochondrial fusion, Child, Preschool, Mutation, DNAJA3, Female, Neurology (clinical)
Abstract: Mitochondrial encephalomyopathies caused by mitochondrial DNA (mtDNA) defects are a genetically and phenotypically heterogeneous group of disorders. The site, percentage and distribution of mutations do not explain the overall clinical heterogeneity that is found. Apoptosis (programmed cell death) is an evolutionarily conserved mechanism that is essential for tissue development and homeostasis. Dysregulation of apoptosis has been implicated in the pathogenesis of various human diseases, such as cancer and autoimmune and neurodegenerative disorders. Recent in vitro evidence has indicated the central role of mitochondria in the apoptotic process. We investigated the occurrence of apoptosis in muscle biopsies of 36 patients carrying different mtDNA mutations and four patients with inclusion body myositis and mitochondrial abnormalities. Apoptotic features, mainly localized in cytochrome c oxidase-negative fibres, were observed in muscle fibres of patients carrying a high percentage of single mtDNA deletions (>40%) and of tRNA point mutations (>70%). By contrast, no apoptotic changes were observed in inclusion body myositis and in patients carrying mutations of mtDNA structural genes. Our study suggests that apoptosis is not simply a means whereby cells with dysfunctional mitochondria are eliminated, but that it seems to play a role in the pathogenesis of mitochondrial disorders associated with mtDNA defects affecting mitochondrial protein synthesis. The imbalance and relative abundances of nuclear-encoded and mtDNA-encoded subunits may favour cytochrome c inactivation and release. Cytochrome c, together with respiratory chain dysfunction, could activate apoptotic pathways that, in turn, inhibit the rate of mitochondrial translation and the importation of nuclear-encoded mitochondrial protein precursors. This vicious circle may amplify the biochemical defects and tissue damage and contribute to the modulation of clinical features.
Published: 1999

25. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype

Author: E, Ricci, G, Galluzzi, G, Deidda, S, Cacurri, L, Colantoni, B, Merico, N, Piazzo, S, Servidei, E, Vigneti, V, Pasceri, G, Silvestri, M, Mirabella, F, Mangiola, P, Tonali, and L, Felicetti
Subjects: Adult, Phenotype, Risk Factors, Tandem Repeat Sequences, Humans, Chromosomes, Human, Pair 4, Prognosis, Muscular Dystrophies, Pedigree
Abstract: Genotype analysis by using the p13E-11 probe and other 4q35 polymorphic markers was performed in 122 Italian facioscapulohumeral muscular dystrophy families and 230 normal controls. EcoRI-BlnI double digestion was routinely used to avoid the interference of small EcoRI fragments of 10qter origin that were found in 15% of the controls. An EcoRI fragment ranging between 10 and 28 kb that was resistant to BlnI digestion was detected in 114 of 122 families (93%) comprising 76 familial and 38 isolated cases. Among the unaffected individuals, 3 were somatic mosaics and 7, carrying an EcoRI fragment larger than 20 kb, could be rated as nonpenetrant gene carriers. In a cohort of 165 patients with facioscapulohumeral muscular dystrophy we found an inverse correlation between fragment size and clinical severity. A severe lower limb involvement was observed in 100% of patients with an EcoRI fragment size of 10 to 13 kb (1-2 KpnI repeats left), in 53% of patients with a fragment size of 16 to 20 kb (3-4 KpnI repeats left), and in 19% of patients with a fragment size larger than 21 kb (4 KpnI repeats left). Our results confirm that the size of the fragment is a major factor in determining the facioscapulohumeral muscular dystrophy phenotype and that it has an impact on clinical prognosis and genetic counseling of the disease.
Published: 1999

26. M.P.5.06 Protocol for enzyme replacement therapy in late-onset glycogenosis type II (GSDII)

Author: Claudio Semplicini, Antonio Toscano, Claudio Bruno, Sabrina Ravaglia, T. Mongini, S. Servidei, C. Angelini, Giacomo P. Comi, and R. Gauthier
Subjects: medicine.medical_specialty, Neurology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Late onset, Neurology (clinical), Enzyme replacement therapy, Glycogenosis Type II, business, Gastroenterology, Genetics (clinical)
Published: 2007
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27. Functional involvement of cerebral cortex in Duchenne muscular dystrophy

Author: V, Di Lazzaro, D, Restuccia, S, Servidei, R, Nardone, A, Oliviero, P, Profice, F, Mangiola, P, Tonali, and J C, Rothwell
Subjects: Cerebral Cortex, Male, Magnetics, Adolescent, Electromyography, Neural Conduction, Pyramidal Tracts, Differential Threshold, Humans, Child, Electric Stimulation, Muscular Dystrophies
Abstract: Transcranial stimulation was performed in 4 patients with Duchenne muscular dystrophy and 4 control subjects. The patients' central motor conduction time was normal. The threshold for evoking electromyographic responses using electrical anodal stimulation was the same in both groups, but the threshold for stimulation with a circular magnetic coil at the vertex was higher in the patients. This is compatible with reduced cortical excitability that may be related to the deficiency of brain synaptic dystrophin.
Published: 1998

28. Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: confirmation of a new entity

Author: M, Sabatelli, T, Mignogna, G, Lippi, S, Servidei, M, Zollino, L, Padua, M, Lo Monaco, L, De Armas, M L, Mereu, and P, Tonali
Subjects: Male, Cytogenetics, Adolescent, Sural Nerve, Histocytochemistry, Intellectual Disability, Humans, Cloning, Molecular, Deafness, Child, Hereditary Sensory and Motor Neuropathy, Nerve Fibers, Myelinated
Abstract: We describe two brothers, 11 and 13 years old, respectively, with an early-onset hereditary motor and sensory neuropathy, deafness, and mental retardation. Electrophysiological studies showed marked reduction of motor and sensory conduction velocity and absence of sensory action potentials. Sural nerve biopsy, performed in both patients, showed absence of large myelinated fibers with normal density of small myelinated fibers without axonal degeneration. Signs of demyelination were found only in the younger patient. We suggest that motorsensory neuropathy associated with deafness and mental retardation with absence of large myelinated fibers on sural nerve biopsy represents a distinct clinicopathological entity, which is transmitted in families probably as an autosomal recessive trait.
Published: 1998

29. Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

Author: G, Di Trapani, B, Gregori, S, Servidei, E, Ricci, M, Sabatelli, and P, Tonali
Subjects: Adult, Male, Sural Nerve, Cardiac Output, Low, MELAS Syndrome, Brain, Humans, Muscle, Skeletal, Pedigree
Abstract: We report the clinical, pathological, and genetic findings of a case of MELAS syndrome. This was a man who died for metabolic failure at the age of 27 years. His familiar history was positive for hypoacusia and stroke. He was of short stature and presented mild mental retardation. Since the age of 21 he suffered from recurrent brain-ischemic lesions mainly in the occipital lobes, documented by repeated CT scans. The laboratory data and muscle biopsy disclosed lactic acidosis with ragged red fibres. Neurophysiological data and peripheral nerve biopsy showed an axonal neuropathy. A point mutation in the tRNALeu(UUR) gene of mitochondrial DNA was detected in 5 post-mortem tissues and in muscle biopsy. No defects of mitochondrial respiratory chain were detected. The histological and ultrastructural studies of the brain showed multiple and heterogeneous ischemic lesions with no obvious alterations of cerebral blood vessels. These lesions do not correspond to the vascular territories of main cerebral arteries. Our observations support the hypothesis that local metabolic alterations would play a crucial role in the pathogenesis of cerebral ischemic lesions in MELAS. The correlation between genetic, biochemical, and pathological data are discussed.
Published: 1997

30. Asymptomatic dystrophinopathy

Author: A, Morrone, E, Zammarchi, P C, Scacheri, M A, Donati, R C, Hoop, S, Servidei, G, Galluzzi, and E P, Hoffman
Subjects: Adult, Male, Recombination, Genetic, Adolescent, Middle Aged, Immunohistochemistry, Muscular Dystrophies, Pedigree, Dystrophin, Child, Preschool, Humans, Female, Child, Gene Deletion
Abstract: A 4-year-old girl was referred for evaluation for a mild but persistent serum aspartate aminotransferase (AST) elevation detected incidentally during routine blood screening for a skin infection. Serum creatine kinase activity was found to be increased. Immunohistochemical study for dystrophin in her muscle biopsy showed results consistent with a carrier state for muscular dystrophy. Molecular work-up showed the proposita to be a carrier of a deletion mutation of exon 48 of the dystrophin gene. Four male relatives also had the deletion mutation, yet showed no clinical symptoms of muscular dystrophy (age range 8-58 yrs). Linkage analysis of the dystrophin gene in the family showed a spontaneous change of an STR45 allele, which could be due to either an intragenic double recombination event, or CA repeat length mutation leading to identical size alleles. To our knowledge, this is the first documentation of an asymptomatic dystrophinopathy in multiple males of advanced age. Based on molecular findings, this family would be given a diagnosis of Becker muscular dystrophy. This diagnosis implies the development of clinical symptoms, even though this family is clearly asymptomatic. This report underscores the caution which must be exercized when giving presymptomatic diagnoses based on molecular studies.
Published: 1997

31. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q

Author: G T, Fouad, S, Servidei, S, Durcan, E, Bertini, and L J, Ptácek
Subjects: Genetic Markers, Male, Movement Disorders, Genotype, Genetic Linkage, Chromosome Mapping, Syndrome, Pedigree, Chromosomes, Human, Pair 2, Humans, Female, Lod Score, Alleles, Genes, Dominant, Research Article
Abstract: Dyskinesias are hyperkinetic and involuntary movements that may result from any of a number of different genetic, infectious, and drug-induced causes. Some of the hereditary dyskinetic syndromes are characterized by paroxysmal onset of the abnormal movements. The classification of the familial paroxysmal dyskinesias (FPD) recognizes several distinct, although overlapping, phenotypes. Different forms of the disorder include attacks that are (1) induced by sudden movement (kinesiogenic); (2) spontaneous (non-kinesiogenic); and (3) induced by prolonged periods of exertion. Linkage analysis was pursued in a family segregating an autosomal dominant allele for non-kinesiogenic FPD. The disease allele was mapped to a locus on chromosome 2q31-36 (LOD score 4.64, theta = 0). Identification of distinct genetic loci for the paroxysmal dyskinesias will lead to a new genetic classification and to better understanding of these disorders.
Published: 1996

32. High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy

Author: Salvatore DiMauro, Carlos T. Moraes, S. Shanske, Eduardo Bonilla, S. Servidei, Giovanni Manfredi, and Eric A. Schon
Subjects: Male, Mitochondrial DNA, Molecular Sequence Data, Mitochondrial DNA deletions, Mitochondrion, Biology, Asymptomatic, DNA, Mitochondrial, chemistry.chemical_compound, Mitochondrial myopathy, Gene duplication, medicine, Humans, Repetitive Sequences, Nucleic Acid, Genetics, Base Sequence, Mitochondrial Myopathies, Middle Aged, medicine.disease, Molecular biology, Heteroplasmy, Mitochondria, Muscle, Phenotype, chemistry, Neurology (clinical), medicine.symptom, DNA
Abstract: Other investigators reported the presence of low levels of a 260-bp heteroplasmic duplication of mitochondrial DNA in patients with mitochondrial DNA deletions and their asymptomatic mothers. In this study, we were not able to detect this polymorphism in 30 patients with mitochondrial DNA deletions, but the 260-bp duplication was detected in relatively high levels (32% in muscle) in a patient with a slowly progressive mitochondrial myopathy. The duplication was also present in cultured fibroblasts (10%) and in WBC (1%). Mitochondrial dysfunction in this patient was evidenced in muscle by the presence of ragged-red fibers and a partial decrease in cytochrome c oxidase activity. We also detected low levels of mitochondrial DNA harboring a triplication of the 260-bp region, indicating that this polymorphism is unstable. Taken together, our results suggest that an unstable 260-bp duplication, which includes important mitochondrial DNA cis-acting regulatory sequences, may be pathogenic per se, if present at high levels.
Published: 1995

33. Morphological observations in mitochondrial diseases

Author: Gabriella Silvestri, Aldobrando Broccolini, Enzo Ricci, Antonella Spinazzola, Pietro Attilio Tonali, and S. Servidei
Subjects: Respiratory chain enzyme, Genetics, Pathogenesis, medicine.medical_specialty, Mitochondrial DNA, Molecular genetics, medicine, In patient, In situ hybridization, Muscle fibre, Biology, Single fibre, Molecular biology
Abstract: Mitochondrial diseases have been described and classified mainly on the basis of clinical, biochemical and, since the late 1980's, molecular genetics criteria. A morphological approach has always been considered important for diagnostic purposes; moreover, the recent application of molecular genetic techniques, like in situ hybridization and single fibre PCR, to the study of muscle biopsies in patients with disorders of mitochondrial DNA (mtDNA) has provided insight into the pathogenesis of respiratory chain enzyme deficiency at the level of individual muscle fiber.
Published: 1995
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34. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD)

Author: G. Deidda, Andrea Novelletto, S. Cacurri, I. La Cesa, N. Piazzo, Rune R. Frants, S. Servidei, G. Galluzzi, L. Felicetti, and Cisca Wijmenga
Subjects: musculoskeletal diseases, Adult, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genetic Linkage, Locus (genetics), Biology, Muscular Dystrophies, Genetic linkage, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Muscular dystrophy, Genetics (clinical), Gene Rearrangement, Polymorphism, Genetic, Genetic heterogeneity, Haplotype, Nucleic Acid Hybridization, Middle Aged, medicine.disease, Pedigree, Chromosome 4, Haplotypes, Italy, Genetic marker, Female, Chromosomes, Human, Pair 4
Abstract: Four DNA markers on the distal long arm of chromosome 4 have been analyzed for their linkage to facioscapulohumeral muscular dystrophy locus (FSHD) in a series of 16 Italian families. We found that, in two families, the disease is not linked to the 4q35 markers, indicating the presence of genetic heterogeneity among Italian FSHD families. Linkage analysis in the remaining families supports the order cen-D4S171-D4S163-D4S139-D4S810-FSHD-qter, in agreement with the physical map from the literature. EcoRI digestion and hybridization with the distal marker p13E-11 (D4S810)1 detected DNA rearrangements in the affected members of both sporadic and familial cases of FSHD, with family-specific fragments ranging in size between 15 kb and 28 kb. In three sporadic FSHD cases, the appearance of a new “small” fragment not present in either parent was clearly associated with the development of FSHD disease. However, in the familial cases analyzed, we observed two recombinations between all four 4q35 markers and the disease locus in apparently normal subjects, leaving open the possibility of nonpenetrance of the FSHD mutation.
Published: 1994

35. Hereditary metabolic cardiomyopathies

Author: S, Servidei, E, Bertini, and S, DiMauro
Subjects: Cardiomyopathy, Dilated, Child, Preschool, Mutation, Infant, Newborn, Humans, Infant, Mitochondrial Myopathies, Child, Glycogen Storage Disease, DNA, Mitochondrial, Lipid Metabolism, Inborn Errors, Metabolism, Inborn Errors, Enzymes
Published: 1994

36. Retroviral vector-mediated gene transfer into human primary myogenic cells leads to expression in muscle fibers in vivo

Author: S. Servidei, Fulvio Mavilio, Pietro Attilio Tonali, Giuliana Ferrari, Giulio Cossu, A. Mezzogiorno, Raffaella Giavazzi, G. Salvatori, M. Coletta, Salvatori, G, Ferrari, G, Mezzogiorno, Antonio, Servidei, S, Coletta, M, Tonali, P, Giavazzi, R, Cossu, G, Mavilio, F., Salvatori, G., Ferrari, Giuliana, Mezzogiorno, A., Servidei, S., Coletta, M., Tonali, P., Giavazzi, R., and Cossu, G.
Subjects: Adult, Male, Adolescent, Cell Transplantation, Virus Integration, Genetic enhancement, Duchenne muscular dystrophy, Cellular differentiation, Genetic Vectors, Mice, Nude, Genome, Viral, Biology, Viral vector, Immunocompromised Host, Mice, Muscular Diseases, Proviruses, Genetics, medicine, Animals, Humans, Myocyte, Child, Molecular Biology, Cells, Cultured, Aged, Reporter gene, Myogenesis, Muscles, Gene Transfer Techniques, Cell Differentiation, Genetic Therapy, Middle Aged, beta-Galactosidase, medicine.disease, Molecular biology, Long terminal repeat, Clone Cells, Molecular Medicine, Female, Moloney murine leukemia virus
Abstract: Primary human myogenic cells isolated from fetal and adult muscle were infected with a high-titer, Moloney murine leukemia virus (MoMLV)-derived retroviral vector expressing a bacterial beta-galactosidase (beta-gal) gene under long terminal repeat (LTR) control. Gene transfer efficiency averaged 50% in both fetal myoblasts and adult satellite cells, as revealed by beta-gal staining. The reporter gene was stably integrated, faithfully inherited, and expressed at significant levels in myogenic cells for at least 10 generations under clonal growth conditions, and throughout the culture life span upon differentiation into myotubes. Comparable gene transfer efficiency was obtained in myogenic cells from muscle biopsies of patients affected by a number of genetic or acquired myopathies, including Duchenne muscular dystrophy. Transduced normal human satellite cells were injected into regenerating muscle of immunodeficient mice, where they formed new muscle fibers in which the product of the reporter gene was detectable for 2 months after injection. These results show that retroviral vectors can be used to transfer foreign genes with high efficiency into normal or abnormal primary human myogenic cells, leading to stable expression into mature muscle. Satellite cells engineered in this way might represent an effective tool for gene therapy of muscular dystrophies as well as for systemic delivery of recombinant gene products for correction of inherited and acquired disorders. The human-mouse model described here will allow in vivo testing of such gene therapy approaches.
Published: 1993

37. Benign monomelic amyotrophy of lower limb: report of three cases

Author: C. Delli Pizzi, Domenico Gambi, R. Cutarella, Pietro Attilio Tonali, Antonino Uncini, S. Servidei, and A. Di Muzio
Subjects: Monomelic amyotrophy, Adult, Male, Biopsy, Electromyography, Lumbar, medicine, Humans, Motor Neuron Disease, Wasting, Motor Neurons, Neurologic Examination, Pyramidal tracts, medicine.diagnostic_test, business.industry, Muscles, Peroneal Nerve, General Medicine, Spinal muscular atrophy, Anatomy, Motor neuron, Middle Aged, medicine.disease, body regions, Muscular Atrophy, medicine.anatomical_structure, Neurology, Female, Neurology (clinical), medicine.symptom, Tibial Nerve, business, Tomography, X-Ray Computed
Abstract: Three patients with wasting confined to a single lower limb are reported. The characteristic features were: sporadic occurrence, insidious onset with slow progression and in 2 cases arrested course for at least 4 years, wasting out of proportion with disability, absence of sensory, pyramidal tract or bulbar signs. CK, motor and sensory conductions, and lumbar MRI were normal. Muscle CT showed selective loss of muscle tissue and fat replacement in posterior leg muscles. Quantitative electromyography and histologic findings revealed neurogenic features not only in the affected legs, but also in clinically uninvolved limbs. Monomelic amyotrophy of lower limb is a variant of spinal muscular atrophy with a benign course. However, as in the early stages of the disease there are no distinctive clinical or laboratory findings with other motor neuron diseases, the diagnosis of monomelic amyotrophy may be made only retrospectively after a prolonged observation.
Published: 1992

38. Dystrophinopathy in isolated cases of myopathy in females

Author: E. P. Hoffman, K. Arahata, C. Minetti, E. Bonilla, L. P. Rowland, C. Angelini, E. Arikawa, C. Baba, P. E. Barkhaus, S. C. Bauserman, I. J. Butler, J. D. Cook, J. G. Chutkow, G. Cordone, O. B. Evans, A. Fideianska, C. Garcia, J. M. Gilchrist, M. Glasberg, K. Hamada, T. Ishihara, N. Ishikawa, S. D. Johnsen, K. Kamakura, O. Kikumoto, M. Kinoshita, K. Kumagai, H. Marks, W. Marks, J. Maytal, M. Moggio, E. Moser, M. A. Nigro, W. Noll, I. Nonaka, A. Prelle, M. G. Iieyes, E. Ricci, AD. Roses, R. Sakuta, E. Satoyoshi, S. Servidei, A. Smith, M. Steele, S. H. Subramony, N. Sunohara, J. Z. Wang, H. B. Wessel, T. Yanagawa, T. Munsat, I. Hausmanowa-Petrusewicz, and H. Sugita
Subjects: Adult, medicine.medical_specialty, Pathology, Neuromuscular disease, Adolescent, Duchenne muscular dystrophy, Immunoblotting, Dystrophin, Sex Factors, Biopsy, medicine, Humans, Family history, Myopathy, Child, medicine.diagnostic_test, biology, Muscles, Infant, Neuromuscular Diseases, Middle Aged, medicine.disease, Immunohistochemistry, Child, Preschool, Karyotyping, Etiology, biology.protein, Histopathology, Female, Neurology (clinical), medicine.symptom
Abstract: X-linked dystrophinopathy is the most common cause of isolated cases of myopathy in males. To investigate dystrophin abnormalities as a cause of myopathy in girls and women, we used dystrophin immunocytochemistry to study muscle biopsies from 505 girls and women with neuromuscular disease. Forty-six muscle biopsies showed a combination of fibers containing or lacking dystrophin; this mosaic immunostaining pattern denoted a carrier status. Twenty-one of 46 (45.6%) had a family history of Duchenne muscular dystrophy in males. Twenty-five of 46 (54.3%) were isolated cases, with no previous family history of neuromuscular disorder. The laboratory findings of the isolated cases were consistent with the familial cases; all showed myopathic histopathology and abnormal elevations of serum CK. The clinical presentations of the isolated cases varied but were consistent with the familial cases: 40% (10/25) of isolated cases showed proximal limb weakness before age 10, 24% (6/25) presented with myalgias or cramps, 24% (6/25) presented with incidental findings of grossly elevated CK levels, 8% (2/25) noted easy fatigue, and 4% (1/25) had slowly progressive proximal limb weakness beginning at age 45. From our data, the clinical criteria for consideration of an underlying dystrophinopathy in isolated female cases of myopathy are CK levels greater than 1,000 IU/l and myopathic histopathology. About 10% of the isolated cases of hyperCKemic myopathy (25/210) were proven by dystrophin analysis to have a dystrophinopathy as the cause of their disease (manifesting carriers of Duchenne dystrophy). However, we feel that this may be an underestimate. The correct diagnosis in these patients is imperative for appropriate genetic counseling to the patients and their families.
Published: 1992

39. Immunohistochemical study of caveolin-3 in idiopathic hyperCKaemia

Author: Antonino Uncini, S Lupo, A. Di Muzio, S. Servidei, and Margherita Capasso
Subjects: Adult, Male, myalgia, Weakness, medicine.medical_specialty, Pathology, Letter, Neuromuscular disease, Adolescent, Caveolin 3, Neurological examination, Caveolins, caveolina, Gastroenterology, Risk Factors, Internal medicine, medicine, Humans, Child, Muscle, Skeletal, Creatine Kinase, Subclinical infection, biology, medicine.diagnostic_test, business.industry, Malignant hyperthermia, Neuromuscular Diseases, Middle Aged, medicine.disease, Settore MED/26 - NEUROLOGIA, Psychiatry and Mental health, Blood chemistry, Child, Preschool, biology.protein, Female, Surgery, Creatine kinase, Neurology (clinical), medicine.symptom, business
Abstract: With the increasing concern about malignant hyperthermia and with the inclusion of creatine kinase determination in the automated blood chemistry profile, performed as part of health screening, the number of subjects with raised serum creatine kinase (hyperCKaemia) without clinical signs of neuromuscular disease is continuously increasing. In 1980 Rowland et al coined the term “idiopathic hyperCKaemia” to describe patients with consistently increased serum creatine kinase who may complain of myalgia or tiredness but do not have weakness or other abnormalities on neurological examination, electromyography, and muscle biopsy.1 Extensive ancillary investigations may lead to the diagnosis of a subclinical neuromuscular disorder in a variable percentage of subjects but in others hyperCKaemia remains unexplained even after complete studies. Merlini et al 2 reported on an 18 year old man and his 49 year old …
Published: 2003
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40. Apoptotic features accompany acute quadriplegic myopathy

Author: C. Mawrin, S. Di Giovanni, M. Mirabella, and S. Servidei
Subjects: Neurology (clinical)
Published: 2001
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41. GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy

Author: S. Di Giovanni, Gabriella Silvestri, P.A. Tonali, G. De Rosa, S. Servidei, Massimiliano Mirabella, A. Di Muzio, and Antonino Uncini
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Biology, Gene mutation, medicine.disease_cause, Poly(A)-Binding Protein II, Muscular Dystrophies, Oculopharyngeal muscular dystrophy, Exon, Trinucleotide Repeats, medicine, Humans, Age of Onset, Allele, Mutation, Muscle biopsy, medicine.diagnostic_test, Muscles, Skeletal muscle, Middle Aged, medicine.disease, DNA-Binding Proteins, medicine.anatomical_structure, Italy, Oculomotor Muscles, Pharyngeal Muscles, Female, Neurology (clinical)
Abstract: Objective: To screen Italian patients with oculopharyngeal muscular dystrophy (OPMD) for GCG repeat expansions in the Poly(A) binding-protein 2 (PABP2) gene. Background: Oculopharyngeal muscular dystrophy is an adult-onset autosomal dominant muscle disease linked to 14q11 pathologically characterized by unique 8.5 nm intranuclear filaments in skeletal muscle fibers. Short expansions of a (GCG) 6 repeat located in exon 1 of the newly isolated PABP2 gene have been demonstrated in a large number of OPMD families. Methods: We studied 18 patients diagnosed with OPMD. A muscle biopsy was performed in 16 patients. Screening for the pathologic expansion was performed on a PCR amplified DNA fragment encompassing the GCG repeat. Results: Heterozygous (GCG)-repeat expansions were detected in 13 patients in association with (GCG) 6 normal allele or (GCG) 7 polymorphic allele. All the patients whose muscle biopsy showed typical 8.5 nm intranuclear filaments had a mutated PABP2 allele. Five patients with no intranuclear filaments were homozygous for the normal (GCG) 6 allele. The pathologic expansion appeared to be stable with no variation among family members and between different tissues as blood and skeletal muscle in the same individual. Conclusions: These data 1) further confirm PABP2 gene analysis as a valuable tool in OPMD diagnosis; 2) indicate that PABP2 gene mutations are always present among Italian patients with morphologically proven OPMD, suggesting genetic homogeneity of the disease; and 3) strengthen the putative role of mutated PABP2 protein in filamentous inclusions accumulation.
Published: 2000
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42. Functional involvement of central nervous system in mitochondrial myopathies

Author: Domenico Restuccia, S. Servidei, Enzo Ricci, V. Di Lazzaro, Raffaele Nardone, M. Valeriani, Antonio Oliviero, P. Profice, Gabriella Silvestri, and P.A. Tonali
Subjects: medicine.anatomical_structure, Mitochondrial myopathy, General Neuroscience, Central nervous system, medicine, Neurology (clinical), Biology, medicine.disease, Neuroscience
Published: 1996
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43. Mutation analysis of the CLCN1 gene in ITALIAN patients affected by thomsen myotonia congenita and generalized becker myotonia

Author: A. Botta, S. Servidei, M. Lo Monaco, G. Fratta, Bruno Dallapiccola, P.A. Tonali, Giuseppe Novelli, Federica Sangiuolo, Luciano Merlini, and Alvaro Mesoraca
Subjects: Genetics, CLCN1, biology, business.industry, Myotonia congenita, Myotonia, medicine.disease, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Mutation testing, Medicine, Neurology (clinical), business, Gene, Genetics (clinical)
Published: 1996
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44. Autosomal dominant muscular dystrophy with rimmed vacuoles: a nosological entity?

Author: Bruno Dallapiccola, Giuseppe Novelli, S. Servidei, Enzo Ricci, Francesca Capon, P.A. Tonali, Antonella Spinazzola, Enrico Bertini, and Massimiliano Mirabella
Subjects: Pathology, medicine.medical_specialty, Neurology, Pediatrics, Perinatology and Child Health, medicine, Rimmed vacuoles, Neurology (clinical), Biology, Muscular dystrophy, medicine.disease, Genetics (clinical)
Published: 1996
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45. Immunohistochemical studies of muscle and nerve in merosin-deficient congenital muscular dystrophy

Author: C. Piantadosi, Enrico Bertini, Antonella Spinazzola, Aldobrando Broccolini, S. Servidei, Gabriella Silvestri, P.A. Tonali, and Enzo Ricci
Subjects: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Immunohistochemistry, Neurology (clinical), business, Genetics (clinical), Merosin deficient congenital muscular dystrophy
Published: 1996
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46. Asymptomatic dystrophinopathies: analysis of DNA, mRNA and protein

Author: Aldobrando Broccolini, A. Morrone, S. Servidei, R. De Leo, E. Vigneti, L. Felicetti, and Giuliana Galluzzi
Subjects: chemistry.chemical_compound, Messenger RNA, Neurology, chemistry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, Biology, Molecular biology, Asymptomatic, Genetics (clinical), DNA
Published: 1996
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47. Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome

Author: Salvatore DiMauro, Emma Ciafaloni, Giovanni Manfredi, Gabriella Silvestri, Enzo Ricci, S. Shanske, Eric A. Schon, and S. Servidei
Subjects: Mitochondrial DNA, RNA, Transfer, Leu, Mutant, Biology, medicine.disease_cause, MELAS syndrome, DNA, Mitochondrial, Muscular Diseases, Mitochondrial myopathy, medicine, Humans, Tissue Distribution, Genetics, Brain Diseases, Mutation, mtDNA, Point mutation, medicine.disease, Heteroplasmy, Settore MED/26 - NEUROLOGIA, Cerebrovascular Disorders, MELAS, Transfer RNA, Acidosis, Lactic, Neurology (clinical)
Abstract: We documented the presence of a newly described point mutation in the tRNA Leu(UUR) gene of mitochondrial DNA in five postmortem tissues from a patient with MELAS syndrome. The mutation was heteroplasmic, but the percentage of mutant genomes was similar (79 to 88%) in both clinically affected and unaffected tissues.
Published: 1991
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48. Night sleep study in a patient affected by Pick's disease (PD) and amyotrophic lateral sclerosis (ALS)

Author: M.A. Petrella, S. Magi, P.A. Tonali, S. Servidei, and G. Mennuni
Subjects: medicine.medical_specialty, Physical medicine and rehabilitation, business.industry, Patient affected, General Neuroscience, Medicine, Pick's disease, Night sleep, Neurology (clinical), Amyotrophic lateral sclerosis, business, medicine.disease
Published: 1990
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49. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

Author: G. Rahlf, A. Bardosi, Reinhard L. Friede, Salvatore DiMauro, T. Wetterling, Alfried Kohlschütter, G. Van Lessen, S. Servidei, W. Creutzfeldt, G. Mayer, Hans-Hilmar Goebel, and K. Felgenhauer
Subjects: Adult, Pathology, medicine.medical_specialty, Malabsorption, Gastrointestinal Diseases, Encephalopathy, Respiratory chain, Cytochrome-c Oxidase Deficiency, Eye, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Muscular Diseases, Mitochondrial myopathy, medicine, Humans, Muscular dystrophy, 030304 developmental biology, 2. Zero hunger, Brain Diseases, 0303 health sciences, business.industry, Peripheral Nervous System Diseases, Syndrome, medicine.disease, Mitochondria, Muscle, Peripheral neuropathy, Lactic acidosis, Female, Neurology (clinical), business, Polyneuropathy, 030217 neurology & neurosurgery
Abstract: A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues revealed a partial defect of cytochrome-c-oxidase (complex IV of the respiratory chain). This mitochondrial multisystem disorder may represent a separate entity to be classified between the spectrum of myoencephalopathies and oculo-gastrointestinal muscular dystrophy.
Published: 1987
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50. Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency

Author: S. Servidei, Steven F. Lewis, R. W. Estabrook, Daniel W. Foster, Ronald G. Haller, and S. DiMauro
Subjects: Adult, medicine.medical_specialty, Respiratory chain, Cytochrome-c Oxidase Deficiency, Exercise intolerance, Biology, Electron Transport, Electron Transport Complex IV, Internal medicine, Arteriovenous oxygen difference, medicine, Humans, Exercise physiology, Exercise, Lung, Muscle fatigue, Skeletal muscle, Heart, General Medicine, medicine.disease, Immunohistochemistry, Mitochondria, Muscle, Oxygen, Mitochondrial respiratory chain, medicine.anatomical_structure, Endocrinology, Lactic acidosis, Lactates, Acidosis, Lactic, Female, medicine.symptom, Research Article
Abstract: A 27-yr-old woman with lifelong severe exercise intolerance manifested by muscle fatigue, lactic acidosis, and prominent symptoms of dyspnea and tachycardia induced by trivial exercise was found to have a skeletal muscle respiratory chain defect characterized by low levels of reducible cytochromes a + a3 and b in muscle mitochondria and marked deficiency of cytochrome c oxidase (complex IV) as assessed biochemically and immunologically. Investigation of the pathophysiology of the exercise response in the patient revealed low maximal oxygen uptake (1/3 that of normal sedentary women) in cycle exercise and impaired muscle oxygen extraction as indicated by profoundly low maximal systemic arteriovenous oxygen difference (5.8 ml/dl; controls = 15.4 +/- 1.4, mean +/- SD). The increases in cardiac output and ventilation during exercise, normally closely coupled to muscle metabolic rate, were markedly exaggerated (more than two- to threefold normal) relative to oxygen uptake and carbon dioxide production accounting for prominent tachycardia and dyspnea at low workloads. Symptoms in our patient are similar to those reported in other human skeletal muscle respiratory chain defects involving complexes I and III, and the exaggerated circulatory response resembles that seen during experimental inhibition of the mitochondrial respiratory chain. These results suggest that impaired oxidative phosphorylation in working muscle disrupts the normal regulation of cardiac output and ventilation relative to muscle metabolic rate in exercise.
Published: 1989
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