92 results on '"Zanigni S"'
Search Results
2. Application of ICHD-II and revised diagnostic criteria to patients with chronic daily headache
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Sancisi, E., Cevoli, S., Pierangeli, G., Zanigni, S., Grimaldi, D., Nicodemo, M., Cortelli, P., and Montagna, P.
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- 2007
- Full Text
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3. Which therapy for which patient?
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Pierangeli, G., Cevoli, S., Sancisi, E., Grimaldi, D., Zanigni, S., Montagna, P., and Cortelli, P.
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- 2006
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4. Chronic daily headache: risk factors and pathogenetic considerations
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Cevoli, S., Sancisi, E., Pierangeli, G., Grimaldi, D., Zanigni, S., Nicodemo, M., Cortelli, P., and Montagna, P.
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- 2006
- Full Text
- View/download PDF
5. MANAGEMENT OF THE NEURO-CARDIOGENIC OR UNCERTAIN DIAGNOSIS SYNCOPE: EXPERIENCE OF THE MULTIDISCIPLINARY SYNCOPE UNIT OF BOLZANO: 29.6
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Tomaino, M., Romeo, C., Donolato, P., Sgobino, P., Sacco, G., Stockner, I., Kaneppele, A., Rottensteiner, J., Beccarello, A., Nitti, M., Zanigni, S., Pozzera, A., Salandin, Reinstadler, P., and Parmeggiani, L.
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- 2011
6. The role of cardiac diseases in the comorbidity between migraine and stroke
- Author
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Pierangeli, G., Cevoli, S., Zanigni, S., Sancisi, E., Monaldini, C., Donti, A., Ribani, M. A., Montagna, P., and Cortelli, P.
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- 2004
- Full Text
- View/download PDF
7. Investigation of the T3111C CLOCK gene polymorphism in cluster headache
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Cevoli, S., Mochi, M., Pierangeli, G., Zanigni, S., Grimaldi, D., Bonavina, G., Torelli, P., Manzoni, G. C., Cortelli, P., and Montagna, P.
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- 2008
- Full Text
- View/download PDF
8. White matter and cortical alterations in myotonic dystrophy type 1
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Gramegna, Ll, Tonon, C, Zanigni, S, Evangelisti, S, Giannoccaro, Mp, Oppi, F, Avoni, P, Giorgio, Antonio, De Stefano, N, Bianchini, C, Lodi, R, and Liguori, R.
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- 2015
9. Evidence of a selective nociceptive impairment in systemic sclerosis
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Bajocchi, G., Terlizzi, R., Zanigni, S., GIORGIO BARLETTA, Grimaldi, D., Pierangeli, G., Cortelli, P., Bajocchi G., Terlizzi R., Zanigni S., Barletta G., Grimaldi D., Pierangeli G., and Cortelli P.
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- 2009
10. Overexpression of blood microRNAs 103a, 30b, and 29a in L-dopa-treated patients with PD
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Serafin, A., primary, Foco, L., additional, Zanigni, S., additional, Blankenburg, H., additional, Picard, A., additional, Zanon, A., additional, Giannini, G., additional, Pichler, I., additional, Facheris, M. F., additional, Cortelli, P., additional, Pramstaller, P. P., additional, Hicks, A. A., additional, Domingues, F. S., additional, and Schwienbacher, C., additional
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- 2015
- Full Text
- View/download PDF
11. Association between restless legs syndrome and hypertension: a preliminary population-based study in South Tyrol, Italy
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Giannini, G., primary, Zanigni, S., additional, Melotti, R., additional, Gögele, M., additional, Provini, F., additional, Facheris, M. F., additional, Cortelli, P., additional, and Pramstaller, P. P., additional
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- 2013
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12. White matter and cortical changes in atypical parkinsonisms: A multimodal quantitative MR study
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Giovanna Calandra-Buonaura, David Neil Manners, Giulia Giannini, Pietro Cortelli, Anna Gabellini, Maria Guarino, Caterina Tonon, Stefania Evangelisti, Luisa Sambati, Claudia Testa, Laura Ludovica Gramegna, Raffaele Lodi, Stefano Zanigni, Zanigni, S, Evangelisti, S, Testa, C, Manners, Dn, Calandra-Buonaura, G, Guarino, M, Gabellini, A, Gramegna, Ll, Giannini, G, Sambati, L, Cortelli, P, Lodi, R, and Tonon, C.
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Adult ,Male ,Pathology ,medicine.medical_specialty ,Movement disorders ,Parkinson's disease ,030218 nuclear medicine & medical imaging ,Progressive supranuclear palsy ,White matter ,03 medical and health sciences ,0302 clinical medicine ,Atrophy ,Image Processing, Computer-Assisted ,medicine ,Humans ,Aged ,Aged, 80 and over ,Cerebral Cortex ,Analysis of Variance ,Progressive Supranuclear Palsy ,Parkinson Disease ,Middle Aged ,Multiple System Atrophy ,medicine.disease ,Magnetic Resonance Imaging ,White Matter ,nervous system diseases ,medicine.anatomical_structure ,nervous system ,Neurology ,Female ,Supranuclear Palsy, Progressive ,Neurology (clinical) ,Geriatrics and Gerontology ,medicine.symptom ,Differential diagnosis ,Psychology ,Tractography ,030217 neurology & neurosurgery ,MRI ,Diffusion MRI - Abstract
Objectives To evaluate white matter and cortical changes in patients with parkinsonisms and healthy controls (HC), applying both hypothesis-free and regions of interest (ROI)-based advanced brain MR analyses. Methods Twenty-five patients with Progressive Supranuclear Palsy - Richardson's Syndrome (PSP-RS), nine with cerebellar and nine with parkinsonian Multiple System Atrophy variants (MSA-C and MSA-P), forty-seven with Parkinson's Disease (PD) and twenty-seven HC underwent a 1.5 T brain-MR protocol including high-resolution 3D T1-weighted and 25-direction diffusion tensor imaging sequences. We performed cortical and white matter analysis by using vertex-based cortical thickness evaluation and Tract Based Spatial Statistics (TBSS), followed by a ROI-based cortical thickness analysis and probabilistic tractography of cortico-spinal tract (CST), and middle and superior cerebellar peduncles (MCP and SCP). Results In PSP-RS, both ROIs-based and voxel-wise analyses demonstrated significant thinning of the pre-central cortices and diffuse white matter alterations involving supra- and infratentorial compartments. Along-tract tractography analysis of CST showed a significantly higher MD in PSP-RS vs PD and HC limited to the portion of the tract within the corona radiata. In MSA-C, a predominant involvement of MCPs was evident, while alterations in MCPs in MSA–P and in SCPs in PSP-RS and MSA-C were also present. Conclusion Specific patterns of cortical and white matter changes in atypical parkinsonism patients reflect the neuropathological and clinical features of these disorders. This study shows that quantitative brain MR techniques can detect significant changes that help to elucidate the physiopathology of movement disorders and support their differential diagnosis.
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- 2017
13. Overexpression of blood microRNAs 103a, 30b, and 29a in L-dopa-treated patients with PD
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Pietro Cortelli, Maurizio F. Facheris, Francisco S. Domingues, Christine Schwienbacher, Andrew A. Hicks, Anne Picard, Irene Pichler, Alice Serafin, Hagen Blankenburg, Stefano Zanigni, Luisa Foco, Alessandra Zanon, Peter P. Pramstaller, Giulia Giannini, Serafin, A, Foco, L, Zanigni, S, Blankenburg, H, Picard, A, Zanon, A, Giannini, G, Pichler, I, Facheris, MF, Cortelli, P, Pramstaller, PP, Hicks, AA, Domingues, FS, and Schwienbacher, C
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Male ,Candidate gene ,In silico ,Context (language use) ,Biology ,Real-Time Polymerase Chain Reaction ,Bioinformatics ,Peripheral blood mononuclear cell ,Biomarkers, Pharmacological ,Antiparkinson Agents ,Levodopa ,Pathogenesis ,microRNA ,medicine ,Humans ,Computer Simulation ,Aged ,Neurodegeneration ,MicroRNA ,Parkinson Disease ,medicine.disease ,MicroRNAs ,Real-time polymerase chain reaction ,Antiparkinson Agent ,Cancer research ,Female ,Neurology (clinical) ,Human - Abstract
Objective: The aims of the present study were to profile the expression of several candidate microRNAs (miRNAs) in blood from l-dopa-treated and drug-naive patients with Parkinson disease (PD) vs unaffected controls and to interpret the miRNA expression data in a biological context. Methods: We analyzed RNAs from peripheral blood of 36 l-dopa–treated, 10 drug-naive patients with PD and unaffected controls matched 1:1 by sex and age. We evaluated expression by reverse transcription–quantitative real-time PCR, and we analyzed data using a 2-tailed paired t test. To detect miRNA targets, several miRNA resources were combined to generate an overall score for each candidate gene using weighted rank aggregation. Results: Significant overexpression of miR-103a-3p ( p p = 0.002), and miR-29a-3p ( p = 0.005) in treated patients with PD was observed, and promising candidate target genes for these were revealed by an integrated in silico analysis. Conclusions: We revealed 3 candidate biomarkers for PD. miRNAs 30b-5p and 29a-3p replicated a documented deregulation in PD albeit opposite to published data, while for miR-103a-3p, we demonstrated for the first time an overexpression in treated patients with PD. Expression studies in patients and/or in isolated peripheral blood mononuclear cells before and after l-dopa administration are necessary to define the involvement of l-dopa treatment in the observed overexpression. Our in silico analysis to prioritize targets of deregulated miRNAs identified candidate target genes, including genes related to neurodegeneration and PD. Despite the preliminary character of our study, the results provide a rationale for further clarifying the role of the identified miRNAs in the pathogenesis of PD and for validating their diagnostic potential.
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- 2015
14. The contribution of cerebellar proton magnetic resonance spectroscopy in the differential diagnosis among parkinsonian syndromes
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ZANIGNI, STEFANO, TESTA, CLAUDIA, CALANDRA BUONAURA, GIOVANNA, CORTELLI, PIETRO, LODI, RAFFAELE, TONON, CATERINA, Sambati, L., Guarino, M., Gabellini, A., EVANGELISTI, STEFANIA, SAMBATI, LUISA, Zanigni, S., Testa, C., Calandra-Buonaura, G., Sambati, L., Guarino, M., Gabellini, A., Evangelisti, S., Cortelli, P., Lodi, R., and Tonon, C.
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Adult ,Male ,Cerebellum ,Pathology ,medicine.medical_specialty ,MRS ,Parkinson's disease ,Proton Magnetic Resonance Spectroscopy ,Creatine ,Progressive supranuclear palsy ,Parkinsonian syndromes ,Diagnosis, Differential ,chemistry.chemical_compound ,Atrophy ,Cerebellar hemisphere ,medicine ,Humans ,Aged ,Aged, 80 and over ,business.industry ,Parkinson Disease ,Syndrome ,Multiple system atrophy ,Middle Aged ,medicine.disease ,nervous system diseases ,medicine.anatomical_structure ,Neurology ,chemistry ,nervous system ,Female ,Neurology (clinical) ,Supranuclear Palsy, Progressive ,Geriatrics and Gerontology ,Differential diagnosis ,business - Abstract
The in vivo differential diagnosis between idiopathic Parkinson's disease (PD) and atypical parkinsonian syndromes (PS), such as multiple system atrophy [MSA with a cerebellar (C) and parkinsonian (P) subtype] and progressive supranuclear palsy - Richardson's Syndrome (PSP-RS) is often challenging. Previous brain MR proton spectroscopy ((1)H-MRS) studies showed biochemical alterations in PS, despite results are conflicting. Cerebellum plays a central role in motor control and its alterations has been already demonstrated in atypical PS. The main aim of this study was to evaluate diagnostic accuracy of cerebellar (1)H-MRS in the differential diagnosis between PD and atypical PS.We obtained (1)H-MRS spectra from the left cerebellar hemisphere of 57 PS (21 PD, and 36 atypical PS) and 14 unaffected controls by using a 1.5 T GE scanner. N-acetyl-aspartate (NAA)/Creatine (Cr), choline-containing compounds (Cho)/Cr, myoinositol (mI)/Cr, and NAA/mI ratios were calculated.NAA/Cr and NAA/mI ratios were significantly lower (p0.01) in atypical PS compared to PD and controls, and in MSA-C compared to PD, MSA-P, PSP-RS and controls. PSP-RS group showed reduced NAA/Cr ratios compared to PD (p0.05) and controls (p0.05), and reduced NAA/mI compared to controls (p0.01). NAA/Cr ratio values higher than 1.016 showed 100% sensitivity and negative predictive value, 62% positive predictive value and 64% specificity in discriminating PD.Cerebellar biochemical alterations detected by using (1)H-MRS could represent an adjunctive diagnostic tool to improve the differential diagnosis of PS.
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- 2015
15. Binary and multi-class parkinsonian disorders classification using support vector machines
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David Neil Manners, Nico Lanconelli, Caterina Tonon, Stefania Evangelisti, Giorgio Gnecco, Pietro Cortelli, Claudio Bianchini, Laura Ludovica Gramegna, Rita Morisi, Raffaele Lodi, Stefano Zanigni, Claudia Testa, Cardoso J.S.,Paredes R.,Pardo X.M., and Morisi R, Gnecco G, Lanconelli N, Zanigni S, Manners DN, Testa C, Evangelisti S, Gramegna LL, Bianchini C, Cortelli P, Tonon C, Lodi, R
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Support Vector Machine ,Computer science ,business.industry ,Multi class classification ,Parkinsonian disorders classification ,Binary number ,Feature selection ,Pattern recognition ,Machine learning ,computer.software_genre ,Class (biology) ,Ranking (information retrieval) ,Support vector machine ,Multiclass classification ,Binary classification ,Preprocessor ,Artificial intelligence ,business ,computer - Abstract
This paper presents a method for an automated Parkinsonian disorders classification using Support Vector Machines (SVMs). Magnetic Resonance quantitative markers are used as features to train SVMs with the aim of automatically diagnosing patients with different Parkinsonian disorders. Binary and multi–class classification problems are investigated and applied with the aim of automatically distinguishing the subjects with different forms of disorders. A ranking feature selection method is also used as a preprocessing step in order to asses the significance of the different features in diagnosing Parkinsonian disorders. In particular, it turns out that the features selected as the most meaningful ones reflect the opinions of the clinicians as the most important markers in the diagnosis of these disorders. Concerning the results achieved in the classification phase, they are promising; in the two multi–class classification problems investigated, an average accuracy of \(81\,\%\) and \(90\,\%\) is obtained, while in the binary scenarios taken in consideration, the accuracy is never less than \(88\,\%\).
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- 2015
16. Association between restless legs syndrome and hypertension: a preliminary population-based study in South Tyrol, Italy
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Stefano Zanigni, Roberto Melotti, Federica Provini, Martin Gögele, Pietro Cortelli, Peter P. Pramstaller, Maurizio F. Facheris, Giulia Giannini, Giannini, G, Zanigni, S, Melotti, R, Gögele, M, Provini, F, Facheris, M F, Cortelli, P, and Pramstaller, P P
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cardiovascular risk ,Male ,medicine.medical_specialty ,Evening ,hypertension ,Diabetes mellitus ,Internal medicine ,Cardiovascular Disease ,Restless Legs Syndrome ,Epidemiology ,mental disorders ,medicine ,Humans ,Restless legs syndrome ,Dysesthesia ,business.industry ,Confounding ,Middle Aged ,medicine.disease ,Comorbidity ,comorbidity ,Neurology ,Italy ,Cardiovascular Diseases ,population-based study ,Physical therapy ,epidemiology ,Female ,Neurology (clinical) ,medicine.symptom ,business ,Willis−Ekbom disease ,Body mass index ,Human - Abstract
Background and purpose Restless legs syndrome (RLS) is a sleep-related movement disorder characterized by an irresistible urge to move the legs accompanied by paresthesia and/or dysesthesia that begins or worsens in the evening and night and that is partially or totally relieved by movement. Many studies have investigated the association between RLS and cardiovascular risk factors, particularly hypertension, leading to conflicting results. The aim of this study was to assess the association between RLS and hypertension considering also other cardiovascular risk factors that could act as confounders. Methods In all, 1709 participants of an on-going adult population-based study performed in South Tyrol, northern Italy, were enrolled. RLS was assessed through face-to-face interviews according to current International Restless Legs Syndrome Study Group diagnostic criteria. The presence of hypertension was self-reported and determined by questionnaires administered by trained study nurses. Results The association between RLS and hypertension was not significant after adjustment for age, sex, diabetes mellitus, history of myocardial infarction, raised blood lipids and body mass index (odds ratio 1.24, 95% CI 0.85–1.80, P = 0.271). Conclusion Despite the small sample size of this study, RLS and hypertension were not associated in our adult population after adjustment for possible confounding factors. The presence of other cardiovascular risk factors could play a role as a confounder of this association.
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- 2014
17. Quality of life, eating and mood disorders in menstrual migraine: a case-control study
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J. E. Fares, Sabina Cevoli, Daniela Grimaldi, Pasquale Montagna, Giulia Pierangeli, Luca Vignatelli, Elisa Sancisi, Pietro Cortelli, Marianna Nicodemo, Stefano Zanigni, Nicodemo M., Vignatelli L., Grimaldi D., Sancisi E., Fares J.E., Zanigni S., Pierangeli G., Cortelli P., Montagna P., and Cevoli S.
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Adult ,medicine.medical_specialty ,Neurology ,Migraine Disorders ,Health-related quality of life ,Dermatology ,Statistics, Nonparametric ,Feeding and Eating Disorders ,Disability Evaluation ,Quality of life (healthcare) ,medicine ,Humans ,Psychiatry ,Menstruation Disturbances ,Disability ,Mood Disorders ,Case-control study ,General Medicine ,medicine.disease ,Psychiatry and Mental health ,Eating disorders ,Mood ,Migraine ,Mood disorders ,Menstrual migraine ,Case-Control Studies ,Quality of Life ,Female ,Neurology (clinical) ,Neurosurgery ,Psychology - Abstract
The aim of this study was to evaluate the prevalence of mood and eating disorders in patients with menstrual migraine. Quality of life and disability were also assessed. The study confirmed the presence of significant disability and poor quality of life due to migraine even in a selected subgroup of patients affected with menstrual migraine. In contrast with the previous literature we did not find any difference in the prevalence of mood and eating disorders.
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- 2008
18. The role of cardiac diseases in the comorbidity between migraine and stroke
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Elisa Sancisi, Sabina Cevoli, Giulia Pierangeli, Stefano Zanigni, Pietro Cortelli, Pasquale Montagna, C. Monaldini, M. A. Ribani, A. Donti, Pierangeli G., Cevoli S., Zanigni S., Sancisi E., Monaldini C., Donti A., Ribani MA., Montagna P., and Cortelli P.
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medicine.medical_specialty ,Neurology ,Heart Diseases ,Migraine Disorders ,Coronary Disease ,Comorbidity ,Dermatology ,Heart Septal Defects, Atrial ,Cohort Studies ,Internal medicine ,medicine ,Humans ,Stroke ,COMORBILITÀ ,Mitral Valve Prolapse ,Vascular disease ,business.industry ,General Medicine ,CARDIOVASCOLARE ,medicine.disease ,Migraine with aura ,EMICRANIA CON AURA ,Aortic Aneurysm ,Psychiatry and Mental health ,Migraine ,Cardiology ,Patent foramen ovale ,Neurology (clinical) ,medicine.symptom ,business ,Cohort study - Abstract
Several case-control and cohort studies have suggested an association between migraine and stroke. A significantly higher risk for stroke was found in women under the age of 45 years and for the subgroup with migraine with aura, the posterior circulation being significantly more frequently involved. The link between cardiac diseases and the comorbidity migraine-stroke has been evaluated considering both possible relationships: a higher prevalence of a vascular disease involving both heart and brain in migraineurs, or a cardiac disorder, more prevalent in migraineurs, with a possible aetiological role in migraine attacks.
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- 2004
19. REM behaviour disorder and neurodegenerative diseases
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Stefano Zanigni, Pietro Cortelli, Daniela Grimaldi, Giovanna Calandra-Buonaura, Zanigni S., Calandra-Buonaura G., Grimaldi D., and Cortelli P.
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Lewy Body Disease ,Sleep, REM ,REM Sleep Parasomnias ,REM Sleep Behavior Disorder ,Neurodegenerative ,Behaviour disorder ,medicine ,Dementia ,Humans ,Parkinson ,business.industry ,Parkinsonism ,Neurodegeneration ,Brain ,REM behaviour disorder ,Muscle atonia ,Neurodegenerative Diseases ,Parkinson Disease ,General Medicine ,Multiple System Atrophy ,medicine.disease ,Sleep in non-human animals ,Parasomnia ,Autonomic Nervous System Diseases ,Sleep behaviour ,REM sleep ,business ,Neuroscience ,psychological phenomena and processes ,PARKINSONISM - Abstract
Rapid-eye movement (REM) sleep behaviour disorder (RBD) is an REM sleep parasomnia characterized by enactment of dream content during REM sleep associated with loss of muscle atonia. RBD can be either idiopathic or secondary to drugs or other diseases. The best recognized association is with neurodegenerative diseases, namely alpha-synucleinopathies. RBD may represent the first feature of neurodegeneration and can be considered an early marker of these disorders. This review describes the main clinical, pathogenetic, and therapeutic features of RBD, pointing to its association with neurodegenerative diseases and emphasizing the clinical and prognostic implications.
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- 2011
20. MANAGEMENT OF THE NEURO-CARDIOGENIC OR UNCERTAIN DIAGNOSIS SYNCOPE: EXPERIENCE OF THE MULTIDISCIPLINARY SYNCOPE UNIT OF BOLZANO
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Tomaino M, Romeo C, Donolato P, Sgobino P, Sacco G, Stockner I, Kaneppele A, Rottensteiner J, Beccarello A, Nitti M, Pozzera A, Salandin, Reinstadler P, Parmeggiani L., ZANIGNI, STEFANO, Tomaino M, Romeo C, Donolato P, Sgobino P, Sacco G, Stockner I, Kaneppele A, Rottensteiner J, Beccarello A, Nitti M, Zanigni S, Pozzera A, Salandin, Reinstadler P, and Parmeggiani L
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- 2011
21. Increased prevalence of sleep disorders in chronic headache: a case-control study
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Pasquale Montagna, Stefano Zanigni, Sabina Cevoli, Daniela Grimaldi, Marianna Nicodemo, Luca Vignatelli, Giulia Pierangeli, Elisa Sancisi, Pietro Cortelli, Sancisi E., Cevoli S., Vignatelli L., Nicodemo M., Pierangeli G., Zanigni S., Grimaldi D., Cortelli P., and Montagna P.
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Adult ,Male ,Sleep Wake Disorders ,medicine.medical_specialty ,Pediatrics ,Headache Disorders ,Neurological disorder ,Comorbidity ,Chronic Migraine ,Risk Factors ,medicine ,Insomnia ,Prevalence ,Humans ,Child Abuse ,Child ,Depression (differential diagnoses) ,Sleep disorder ,business.industry ,medicine.disease ,Neurology ,Mood disorders ,Case-Control Studies ,Physical therapy ,Anxiety ,Female ,Neurology (clinical) ,medicine.symptom ,business - Abstract
Objectives.— The aim of our study was to investigate the prevalence of sleep disorders in chronic headache patients and to evaluate the role of psychiatric comorbidity in the association between chronic headache and sleep complaints. Background.— The prevalence of sleep disorders in chronic headache has been seldom investigated, although from the earliest description chronic headache has been associated with sleep disturbances. On the contrary, mood disorders are commonly associated with both sleep disturbances and chronic headache – each of which are, in turn, core features of mood disorders. Therefore, it may be important to discriminate between sleep problems that can be attributed to a comorbid psychiatric disorder, and those specifically associated with headache. Only a few studies investigating the association of chronic headache with sleep difficulties have also taken into account to consider the possible role of anxiety and depression. Patients and Methods.— A total of 105 consecutive patients with daily or nearly daily headache and 102 patients with episodic headache, matched by age, sex, and type of headache at onset, underwent a structured direct interview about their sleep habits and psychiatric diseases. Results.— In total, 80 out of 105 patients with chronic headache received a diagnosis of medication overuse headache, 21 patients were classified as chronic migraine and 4 as chronic tension-type headache without drug overuse. Patients.— Patients with chronic headache showed a high prevalence of insomnia, daytime sleepiness, and snoring with respect to controls (67.7% vs 39.2%, 36.2% vs 23.5%, and 48.6% vs 37.2%, respectively). Forty-five patients with chronic headache (42.9%) had psychiatric comorbidity (anxiety and/or depressive disorders), vs 27 episodic headache patients (26.5%). Multivariate analysis disclosed that low educational level, lower mean age at headache onset, and insomnia are independently associated with chronic headache. Conclusions.— Patients with chronic headache had a high prevalence of sleep complaints. Insomnia may thus represent an independent risk factor for headache chronification. Recognition of sleep disorders, alone or in association with depression or anxiety, may be useful in episodic headache patients to prevent chronification.
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- 2010
22. Sleep and autonomic dysregulation in the elderly
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Stefano Zanigni, Pietro Cortelli, PANDI-PERUMAL SR, MONTI JM, MONJAN AA., Zanigni S., and Cortelli P.
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ELDERLY ,Sleep disorder ,medicine.medical_specialty ,business.industry ,medicine.disease ,SLEEP ,Non-rapid eye movement sleep ,Sleep in non-human animals ,Sleep medicine ,AUTONOMIC NERVOUS SYSTEM ,Autonomic nervous system ,Physical medicine and rehabilitation ,Anesthesia ,medicine ,Insomnia ,Nocturia ,Autonomic dysregulation ,medicine.symptom ,business - Abstract
The primary function of the autonomic nervous system (ANS) is maintenance of homeostasis controlling involuntary functions of the body such as circulation and heart rate, respiration, thermoregulation, neuroendocrine secretion, and gastrointestinal and genitourinary function...
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- 2009
23. Self-help group and medication overuse headache: preliminary data
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Daniela Grimaldi, Pasquale Montagna, Andrea Norcini Pala, Marianna Nicodemo, Elisa Sancisi, Marialuisa Rausa, Giulia Pierangeli, Pietro Cortelli, Æ Sabina Cevoli, Stefano Zanigni, Sancisi E., Rausa M., Zanigni S., Cevoli S., Pala A.N., Nicodemo M., Grimaldi D., Montagna P., Cortelli P., and Pierangeli G.
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Male ,medicine.medical_specialty ,Coping (psychology) ,Neurology ,Time Factors ,Analgesic ,Dermatology ,Self-help ,Managing pain ,Adaptation, Psychological ,medicine ,Headache Disorders, Secondary ,Humans ,Psychiatric Status Rating Scales ,business.industry ,Depression ,Chronic pain ,General Medicine ,Middle Aged ,medicine.disease ,Psychiatry and Mental health ,Self-Help Groups ,Treatment Outcome ,Chronic Disease ,Physical therapy ,Female ,Neurology (clinical) ,Neurosurgery ,business ,Medication overuse - Abstract
The objective of the study is to investigate the benefits of joining a self-help group for patients with medication overuse headache (MOH). A self-help group is a voluntary gathering of a small number of persons who share a common problem. Little is known about support groups for people with chronic non-malignant pain such as MOH. Eight patients with refractory MOH attended a self-help group twice a month. During the meetings, patients were asked to focus on their headache experiences. Our data showed an increase in resourcefulness in coping with pain and a reduction in cephalalgiophobia. All patients reported general benefits in sharing their headache-related problems. No differences were found for headache frequency or analgesic overuse. To our knowledge, this is the first report on a self-help group for patients with MOH. Joining a self-help group can help patients develop positive attitudes to managing pain.
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- 2009
24. Family history for chronic headache and drug overuse as a risk factor for headache chronification
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Daniela Grimaldi, Marianna Nicodemo, Sabina Cevoli, Pietro Cortelli, Pasquale Montagna, Stefano Zanigni, Elisa Sancisi, Giulia Pierangeli, Cevoli S., Sancisi E., Grimaldi D., Pierangeli G., Zanigni S., Nicodemo M., Cortelli P., and Montagna P.
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Adult ,Male ,medicine.medical_specialty ,Headache Disorders ,Substance-Related Disorders ,Alcohol abuse ,Neurological disorder ,Young Adult ,Chronic Migraine ,Risk Factors ,Internal medicine ,medicine ,Humans ,Young adult ,Risk factor ,Family history ,Psychiatry ,Family Health ,business.industry ,Middle Aged ,medicine.disease ,Substance abuse ,Neurology ,Female ,Neurology (clinical) ,Headaches ,medicine.symptom ,business - Abstract
Objectives.— To assess whether family history for chronic headache (CH) and drug overuse could represent a risk factor for headache chronification. Background.— Among factors investigated as risk factors for chronification of headache disorders, familial liability for CH and drug overuse has been rarely investigated. Patients and Methods.— A total of 105 consecutive patients with daily or nearly daily headache, and 102 consecutive patients with episodic headache matched by age, sex, and type of headache at onset, underwent a structured direct interview about family history for episodic headache, CH with and without medication overuse, substance abuse/dependence, and psychiatric disorders. Results.— In total, 80 out of 105 patients with CH received a diagnosis of medication overuse headache (MOH), 21 patients were classified as chronic migraine (CM), and 4 as chronic tension-type headache (CTTH) without drug overuse. Some 38.1% of CH patients reported family history for CH vs only 13.7% of episodic headaches (P = .001). Familiality for CH with medication overuse was reported by 25.7% of cases vs 9.8% of controls (P = .0028). A familial history of substance abuse was reported by 20% of patients vs 5.9% of controls (P = .0026). In all, 28.7% of MOH patients reported family history for CH with medication overuse (P = .0014) and 21.2% for substance abuse (P = .002). Relatives of patients with MOH were more likely than control relatives to suffer from CH (OR = 4.19 [95% CI 2.05-8.53]), drug overuse (OR = 3.7 [95% CI 1.66-8.24]), and substance abuse (OR = 4.3 [95% CI 1.65-11.19]). No differences regarding family history for episodic headache and for psychiatric disorders were found. No differences in family history for CH with drugs overuse and for substance abuse were found between CH patients without overuse and controls. Fifteen CH patients reported family history for alcohol abuse (P = .0003). Conclusions.— The significantly increased familial risk for CH, drug overuse, and substance abuse suggests that a genetic factor is involved in the process of headache chronification.
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- 2009
25. Investigation of the T3111C CLOCK gene polymorphism in cluster headache
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Pietro Cortelli, Pasquale Montagna, Sabina Cevoli, Stefano Zanigni, Daniela Grimaldi, Gian Camillo Manzoni, Giulia Pierangeli, Giuseppe Bonavina, M. Mochi, Paola Torelli, Cevoli S., Mochi M., Pierangeli G., Zanigni S., Grimaldi D., Bonavina G., Torelli P., Manzoni G.C., Cortelli P., and Montagna P.
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Male ,Receptors, Neuropeptide ,medicine.medical_specialty ,Genotype ,CLOCK Proteins ,Single-nucleotide polymorphism ,Cluster Headache ,Biology ,Polymorphism, Single Nucleotide ,Receptors, G-Protein-Coupled ,Gene Frequency ,Polymorphism (computer science) ,Orexin Receptors ,Internal medicine ,medicine ,Humans ,Circadian rhythm ,Allele ,Alleles ,Genetic association ,Polymorphism, Genetic ,DNA ,Penetrance ,CLOCK ,Endocrinology ,Neurology ,Italy ,Trans-Activators ,Female ,Neurology (clinical) - Abstract
Sirs: Cluster headache (CH) is a primary headache characterized by severe unilateral pain, ipsilateral autonomic symptoms and, in many cases, restlessness. The etiology of CH is still unclear, although clinical, endocrine and neuroimaging studies implicate the hypothalamus. Hypothalamic involvement is also supported by the efficacy of stereotactic deep brain stimulation of the posterior hypothalamic area in chronic drug resistant CH [1]. The increased familial risk of CH suggests a genetic liability with inheritance likely to be autosomal dominant with low penetrance, although autosomal recessive or multifactorial inheritance have also been suggested in some families [2]. A polymorphism of the hypocretin receptor 2 gene has recently been associated with CH [3], a remarkable association since hypocretin-containing cells are located exclusively in the posterolateral hypothalamus. A striking feature of CH is its diurnal and seasonal periodicity, suggesting that circadian and infradian rhythms regulate CH attacks. Polymorphisms in the CLOCK gene, a highly conserved circadian gene, influence the circadian phase in humans [4] and circadian mood fluctuations in bipolar patients [5]. We performed a genetic association study to evaluate whether the T3111C CLOCK polymorphism (also known as T3092C) might be related to CH susceptibility under the assumption of autosomal dominant inheritance. A total of 101 consecutive, unrelated Italian patients (79 men and 22 women) with CH (85 episodic and 16 chronic CH) gave informed consent to the study. All patients were diagnosed after direct interview by a neurologist expert in headache disorders and according to ICHD-II criteria [6]. Of the 101 patients, 87 described a clear circadian rhythmicity of the attacks. 100 healthy individuals, in whom CH and migraine were excluded by direct interview, served as controls. The control sample came from the same geographical region as the CH patients. We analyzed a single nucleotide polymorphism, T3111C, in the 3’ flanking region of the CLOCK gene [4]. DNA was extracted from whole blood by standard methods [7]. PCR primers and methods were those reported by Katzenberg et al. [4]. The T3111C polymorphism was detected by enzymatic digestion with Sdu I (Fermentas) and electrophoresed on MetaPhor agarose 2 % gel. The allelic and genotypic frequencies were compared by means of the Fisher’s exact test. The Hardy-Weinberg equilibrium was verified for all tested populations, and alleles were in Hardy-Weinberg equilibrium in both controls and patients. We found no significant difference in allelic and genotypic frequencies between the total CH patient group and the control subjects (χ2 = 1.261, p = 0.261; χ2 = 5.791, p = 0.055) (Table 1). Nor was a significant difference found when considering the 87 CH patients with circadian rhythmicity of the attacks alone. Our study does not support the hypothesis that the T3111C CLOCK polymorphism is associated with CH. It therefore strengthens the similar negative results reported previously by Rianero et al. [8]. Our analysis moreover resulted in nonsignificant differences when the 87 CH patients reporting a clear periodicity of the attacks were considered separately. It thus appears that CLOCK gene T3111C polymorphism does not influence CH, but our result of course cannot exclude that polymorphic variations at other biological rhythm genes LETTER TO THE EDITORS
- Published
- 2007
26. Application of ICHD-II and revised diagnostic criteria to patients with chronic daily headache
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Daniela Grimaldi, Pasquale Montagna, S. Cevoli, Elisa Sancisi, Pietro Cortelli, Giulia Pierangeli, Stefano Zanigni, Marianna Nicodemo, Sancisi E., Cevoli S., Pierangeli G., Zanigni S., Grimaldi D., Nicodemo M., Cortelli P., and Montagna P.
- Subjects
Adult ,Male ,medicine.medical_specialty ,Pediatrics ,Neurology ,Headache Disorders ,Dermatology ,Severity of Illness Index ,Chronic Migraine ,Daily headache ,International Classification of Diseases ,Severity of illness ,medicine ,Humans ,Medical diagnosis ,Neuroradiology ,business.industry ,General Medicine ,Middle Aged ,Psychiatry and Mental health ,Databases as Topic ,Practice Guidelines as Topic ,International Classification of Headache Disorders ,Female ,Neurology (clinical) ,Neurosurgery ,business - Abstract
The objective of this study was to evaluate how the criteria of the second edition of the International Classification of Headache Disorders (ICHD-II) and the revised criteria fit a sample of patients with chronic daily headache (CDH). One hundred and five patients with CDH in a tertiary headache centre were included. Headache was assessed using a semi-structured interview. Patients were classified according to the ICHD-II and to the new appendix criteria of the ICHD. Using the ICHDII, 91% of patients received a combination of diagnoses and 76% received only a probable diagnosis: 47% had probable chronic migraine (CM) with probable medication overuse headache (MOH), 28% had probable chronic tension-type headache (CTTH) with probable MOH, 20% had CTTH and 3.8% had CM. Using the new appendix criteria, 88.5% of patients required one diagnosis. Seventy-six percent of patients were classified as MOH, 17% had CTTH and 6.7% had CM. The classification of CDH remains controversial. Alternative criteria for CM with and without medication overuse are discussed.
- Published
- 2006
27. Which therapy for which patient?
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Giulia Pierangeli, Elisa Sancisi, Pietro Cortelli, Sabina Cevoli, Pasquale Montagna, Daniela Grimaldi, Stefano Zanigni, Pierangeli G., Cevoli S., Sancisi E., Grimaldi D., Zanigni S., Montagna P., and Cortelli P.
- Subjects
Drug ,Divalproex ,Topiramate ,medicine.medical_specialty ,media_common.quotation_subject ,Migraine Disorders ,Adrenergic beta-Antagonists ,Timolol ,Dermatology ,Pizotifen ,medicine ,Humans ,Intensive care medicine ,Adverse effect ,media_common ,business.industry ,Headache ,General Medicine ,medicine.disease ,Calcium Channel Blockers ,Antidepressive Agents ,Psychiatry and Mental health ,Regimen ,Migraine ,Physical therapy ,Anticonvulsants ,Neurology (clinical) ,business ,medicine.drug - Abstract
Prophylactic treatment is mainly intended to reduce the frequency of migraine attacks, enhance response to acute medications, improve patient function and reduce disability. Sufficient evidence and consensus exist to recommend propranolol, timolol, amitriptyline, pizotifen, divalproex, sodium valproate and topiramate as first line agents for migraine prevention. These drugs can halve the frequency of attacks in 50% of patients. The anticipated benefit must be weighed against the adverse effects associated with each agent in determining the optimal preventive regimen for individual patients considering any comorbid conditions that are often present. The decision to treat and the choice of prophylactic drug must be taken with the patient. It is important to balance expectations and therapeutic realities for each particular drug. Recent data on the effect of prophylactic treatment on trigeminovascular activation and on cortical spreading depression emphasise the importance of developing research on migraine-preventive drugs.
- Published
- 2006
28. Seeking a central autonomic hallmark in early hypertensive patients: a study of circadian rhythms and state-dependent variations of blood pressure (BP), heart rate (HR), body core temperature (BCT)
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PIERANGELI, GIULIA, MONTAGNA, PASQUALE, BARLETTA, GIORGIO, PROVINI, FEDERICA, PLAZZI, GIUSEPPE, VETRUGNO, ROBERTO, ZANIBONI, ANNA, VANDI, STEFANO, ZANIGNI, STEFANO, CORTELLI, PIETRO, Guaraldi P., Ribani M. A., Marchetta F., Portaluppi F., Pierangeli G., Montagna P., Barletta G., Provini F., Plazzi G., Vetrugno R., Guaraldi P., Zaniboni A., Vandi S., Zanigni S., Ribani M.A., Marchetta F., Portaluppi F., and Cortelli P.
- Published
- 2006
29. Circadian rhythms of blood pressure, core body temperature and heart rate are normal in chronic cluster headache patients implanted for deep brain stimulation of posterior hypothalamic area
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GRIMALDI, DANIELA, PIERANGELI, GIULIA, VETRUGNO, ROBERTO, CEVOLI, SABINA, ZANIGNI, STEFANO, SANCISI, ELISA, MONTAGNA, PASQUALE, CORTELLI, PIETRO, Barletta G., Leone M., Guaraldi P., Bussone G., Grimaldi D., Pierangeli G., Barletta G., Leone M., Vetrugno R., Cevoli S., Guaraldi P., Zanigni S., Sancisi E., Montagna P., Bussone G., and Cortelli P.
- Published
- 2006
30. Clinical features of migraine with aura associated with atrial septal defects
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ZANIGNI, STEFANO, PIERANGELI, GIULIA, SANCISI, ELISA, GRIMALDI, DANIELA, CORTELLI, PIETRO, MONTAGNA, PASQUALE, CEVOLI, SABINA, Nicodemo M., Donti A., Zanigni S., Pierangeli G., Sancisi E., Nicodemo M., Grimaldi D., Cortelli P., Montagna P., Donti A., and Cevoli S.
- Published
- 2006
31. Chronic daily headache: risk factors and pathogenetic considerations
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Pasquale Montagna, Daniela Grimaldi, Pietro Cortelli, Stefano Zanigni, Sabina Cevoli, Giulia Pierangeli, Marianna Nicodemo, Elisa Sancisi, Cevoli S., Sancisi E., Pierangeli G., Grimaldi D., Zanigni S., Nicodemo M., Cortelli P., and Montagna P.
- Subjects
Central pain ,medicine.medical_specialty ,Neurology ,business.industry ,Headache Disorders ,Dermatology ,General Medicine ,medicine.disease ,Substance abuse ,Psychiatry and Mental health ,Daily headache ,Chronic disease ,Migraine ,Risk Factors ,Chronic Disease ,medicine ,Humans ,Neurology (clinical) ,Neurosurgery ,Intensive care medicine ,Psychiatry ,business - Abstract
Chronic daily headache (CDH) is a major clinical concern, although it is still plagued by difficulties with classification and definitions. CDH usually evolves from an episodic headache, mainly migraine. Drug overuse and other somatic or psychological traits are considered risk factors for CDH. The neurobiology underlying this clinical evolution is incompletely understood. There is evidence of a progressive dysfunction of central pain systems in some individuals probably genetically predisposed.
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- 2006
32. Investigation of a clock gene polymorphism in Cluster Headache (CH)
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MONTAGNA, PASQUALE, MOCHI, MIRELLA, PIERANGELI, GIULIA, ZANIGNI, STEFANO, CORTELLI, PIETRO, CEVOLI, SABINA, Monaldini C., Bonavina G., Torelli P., Manzoni G. C., Cevoli S., Mochi M., Pierangeli G., Zanigni S., Monaldini C., Bonavina G., Torelli P., Manzoni G.C., Cortelli P., and Montagna P.
- Published
- 2005
33. Familial late-onset migraine with aura
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Bonavina G., Monaldini C., PIERANGELI, GIULIA, CEVOLI, SABINA, ZANIGNI, STEFANO, SANCISI, ELISA, D'ALESSANDRO, ROBERTO, CORTELLI, PIETRO, Bonavina G., Pierangeli G., Cevoli S., Monaldini C., Zanigni S., Sancisi E., D'Alessandro R., and Cortelli P.
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GENETICA ,EMICRANIA CON AURA - Published
- 2004
34. Two year follow-up results of transcatheter closure of an interatrial cardiac defect in two migraine with aura (MWA) patients
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ZANIGNI, STEFANO, PIERANGELI, GIULIA, CEVOLI, SABINA, SANCISI, ELISA, MONTAGNA, PASQUALE, CORTELLI, PIETRO, Monaldini C., Donti A., Zanigni S., Pierangeli G., Cevoli S., Monaldini C., Sancisi E., Donti A., Montagna P., and Cortelli P.
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FORAME OVALE PERVIO ,EMICRANIA CON AURA - Published
- 2004
35. Identification of a set of endogenous reference genes for miRNA expression studies in Parkinson’s disease blood samples
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Alessandra Zanon, Stefano Zanigni, Alice Serafin, Luisa Foco, Anne Picard, Andrew A. Hicks, Christine Schwienbacher, Peter P. Pramstaller, Hagen Blankenburg, Serafin, A, Foco, L, Blankenburg, H, Picard, A, Zanigni, S, Zanon, A, Pramstaller, Pp, Hicks, Aa, and Schwienbacher, C.
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Genetic Markers ,Small RNA ,Microarray ,geNorm algorithm ,Biology ,Real-Time Polymerase Chain Reaction ,snoRNA ,General Biochemistry, Genetics and Molecular Biology ,Predictive Value of Tests ,snRNA ,Reference genes ,Databases, Genetic ,microRNA ,Humans ,Small nucleolar RNA ,Gene ,Oligonucleotide Array Sequence Analysis ,Normfinder algorithm ,Genetics ,Medicine(all) ,Biochemistry, Genetics and Molecular Biology(all) ,Gene Expression Profiling ,Reproducibility of Results ,Parkinson Disease ,qRT-PCR ,General Medicine ,Reference Standards ,Gene expression profiling ,MicroRNAs ,Real-time polymerase chain reaction ,Case-Control Studies ,Calibration ,Comparative delta-Ct ,Algorithms ,Research Article - Abstract
Background Research on microRNAs (miRNAs) is becoming an increasingly attractive field, as these small RNA molecules are involved in several physiological functions and diseases. To date, only few studies have assessed the expression of blood miRNAs related to Parkinson’s disease (PD) using microarray and quantitative real-time PCR (qRT-PCR). Measuring miRNA expression involves normalization of qRT-PCR data using endogenous reference genes for calibration, but their choice remains a delicate problem with serious impact on the resulting expression levels. The aim of the present study was to evaluate the suitability of a set of commonly used small RNAs as normalizers and to identify which of these miRNAs might be considered reliable reference genes in qRT-PCR expression analyses on PD blood samples. Results Commonly used reference genes snoRNA RNU24, snRNA RNU6B, snoRNA Z30 and miR-103a-3p were selected from the literature. We then analyzed the effect of using these genes as reference, alone or in any possible combination, on the measured expression levels of the target genes miR-30b-5p and miR-29a-3p, which have been previously reported to be deregulated in PD blood samples. Conclusions We identified RNU24 and Z30 as a reliable and stable pair of reference genes in PD blood samples. Electronic supplementary material The online version of this article (doi:10.1186/1756-0500-7-715) contains supplementary material, which is available to authorized users.
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36. Trial of Prasinezumab in Early-Stage Parkinson's Disease.
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Pagano G, Taylor KI, Anzures-Cabrera J, Marchesi M, Simuni T, Marek K, Postuma RB, Pavese N, Stocchi F, Azulay JP, Mollenhauer B, López-Manzanares L, Russell DS, Boyd JT, Nicholas AP, Luquin MR, Hauser RA, Gasser T, Poewe W, Ricci B, Boulay A, Vogt A, Boess FG, Dukart J, D'Urso G, Finch R, Zanigni S, Monnet A, Pross N, Hahn A, Svoboda H, Britschgi M, Lipsmeier F, Volkova-Volkmar E, Lindemann M, Dziadek S, Holiga Š, Rukina D, Kustermann T, Kerchner GA, Fontoura P, Umbricht D, Doody R, Nikolcheva T, and Bonni A
- Subjects
- Dopamine Plasma Membrane Transport Proteins therapeutic use, Double-Blind Method, Humans, Treatment Outcome, Antibodies, Monoclonal, Humanized therapeutic use, Antiparkinson Agents therapeutic use, Parkinson Disease drug therapy, alpha-Synuclein antagonists & inhibitors
- Abstract
Background: Aggregated α-synuclein plays an important role in the pathogenesis of Parkinson's disease. The monoclonal antibody prasinezumab, directed at aggregated α-synuclein, is being studied for its effect on Parkinson's disease., Methods: In this phase 2 trial, we randomly assigned participants with early-stage Parkinson's disease in a 1:1:1 ratio to receive intravenous placebo or prasinezumab at a dose of 1500 mg or 4500 mg every 4 weeks for 52 weeks. The primary end point was the change from baseline to week 52 in the sum of scores on parts I, II, and III of the Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS; range, 0 to 236, with higher scores indicating greater impairment). Secondary end points included the dopamine transporter levels in the putamen of the hemisphere ipsilateral to the clinically more affected side of the body, as measured by
123 I-ioflupane single-photon-emission computed tomography (SPECT)., Results: A total of 316 participants were enrolled; 105 were assigned to receive placebo, 105 to receive 1500 mg of prasinezumab, and 106 to receive 4500 mg of prasinezumab. The baseline mean MDS-UPDRS scores were 32.0 in the placebo group, 31.5 in the 1500-mg group, and 30.8 in the 4500-mg group, and mean (±SE) changes from baseline to 52 weeks were 9.4±1.2 in the placebo group, 7.4±1.2 in the 1500-mg group (difference vs. placebo, -2.0; 80% confidence interval [CI], -4.2 to 0.2; P = 0.24), and 8.8±1.2 in the 4500-mg group (difference vs. placebo, -0.6; 80% CI, -2.8 to 1.6; P = 0.72). There was no substantial difference between the active-treatment groups and the placebo group in dopamine transporter levels on SPECT. The results for most clinical secondary end points were similar in the active-treatment groups and the placebo group. Serious adverse events occurred in 6.7% of the participants in the 1500-mg group and in 7.5% of those in the 4500-mg group; infusion reactions occurred in 19.0% and 34.0%, respectively., Conclusions: Prasinezumab therapy had no meaningful effect on global or imaging measures of Parkinson's disease progression as compared with placebo and was associated with infusion reactions. (Funded by F. Hoffmann-La Roche and Prothena Biosciences; PASADENA ClinicalTrials.gov number, NCT03100149.)., (Copyright © 2022 Massachusetts Medical Society.)- Published
- 2022
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37. Mitochondrial dysfunction in myotonic dystrophy type 1.
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Gramegna LL, Giannoccaro MP, Manners DN, Testa C, Zanigni S, Evangelisti S, Bianchini C, Oppi F, Poda R, Avoni P, Lodi R, Liguori R, and Tonon C
- Subjects
- Adenosine Triphosphate metabolism, Adult, Aged, Brain diagnostic imaging, Brain pathology, Exercise physiology, Female, Humans, Lower Extremity, Magnetic Resonance Imaging, Male, Middle Aged, Mitochondrial Diseases diagnostic imaging, Mitochondrial Diseases pathology, Muscle, Skeletal diagnostic imaging, Muscle, Skeletal metabolism, Myotonic Dystrophy diagnostic imaging, Myotonic Dystrophy pathology, Organ Size, Proton Magnetic Resonance Spectroscopy, Severity of Illness Index, Young Adult, Brain metabolism, Mitochondrial Diseases metabolism, Myotonic Dystrophy metabolism
- Abstract
The pathophysiological mechanism linking the nucleotide expansion in the DMPK gene to the clinical manifestations of myotonic dystrophy type 1 (DM1) is still unclear. In vitro studies demonstrate DMPK involvement in the redox homeostasis of cells and the mitochondrial dysfunction in DM1, but in vivo investigations of oxidative metabolism in skeletal muscle have provided ambiguous results and have never been performed in the brain. Twenty-five DM1 patients (14M, 39 ± 11years) underwent brain proton MR spectroscopy (
1 H-MRS), and sixteen cases (9M, 40 ± 13 years old) also calf muscle phosphorus MRS (31 P-MRS). Findings were compared to those of sex- and age-matched controls. Eight DM1 patients showed pathological increase of brain lactate and, compared to those without, had larger lateral ventricles (p < 0.01), smaller gray matter volumes (p < 0.05) and higher white matter lesion load (p < 0.05). A reduction of phosphocreatine/inorganic phosphate (p < 0.001) at rest and, at first minute of exercise, a lower [phosphocreatine] (p = 0.003) and greater [ADP] (p = 0.004) were found in DM1 patients compared to controls. The post-exercise indices of muscle oxidative metabolism were all impaired in DM1, including the increase of time constant of phosphocreatine resynthesis (TC PCr, p = 0.038) and the reduction of the maximum rate of mitochondrial ATP synthesis (p = 0.033). TC PCr values correlated with the myotonic area score (ρ = 0.74, p = 0.01) indicating higher impairment of muscle oxidative metabolism in clinically more affected patients. Our findings provide clear in vivo evidence of multisystem impairment of oxidative metabolism in DM1 patients, providing a rationale for targeted treatment enhancing energy metabolism., (Copyright © 2017 Elsevier B.V. All rights reserved.)- Published
- 2018
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38. Treatment of withdrawal headache in patients with medication overuse headache: a pilot study.
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Cevoli S, Giannini G, Favoni V, Terlizzi R, Sancisi E, Nicodemo M, Zanigni S, Bacchi Reggiani ML, Pierangeli G, and Cortelli P
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- Adult, Drug Therapy, Combination, Female, Humans, Intention to Treat Analysis, Male, Middle Aged, Pilot Projects, Single-Blind Method, Treatment Outcome, Acetaminophen therapeutic use, Analgesics, Non-Narcotic therapeutic use, Glucocorticoids therapeutic use, Headache Disorders, Secondary drug therapy, Methylprednisolone therapeutic use, Migraine Disorders drug therapy, Prescription Drug Overuse, Substance Withdrawal Syndrome drug therapy
- Abstract
Background: Drug withdrawal still remains the key element in the treatment of Medication Overuse Headache (MOH), but there is no consensus about the withdrawal procedure. Still debated is the role of the steroid therapy. The aim of this study was to evaluate the effectiveness of methylprednisolone or paracetamol in the treatment of withdrawal headache in MOH., Methods: We performed a pilot, randomized, single-blinded, placebo controlled trial. MOH patients, unresponsive to a 3 months prophylaxis, underwent withdrawal therapy on an inpatient basis. Overused medications were abruptly stopped and methylprednisolone 500 mg i.v (A) or paracetamol 4 g i.v. (B) or placebo i.v. (C) were given daily for 5 days. Patients were monitored at 1 and 3 months., Results: Eighty three consecutive MOH patients were enrolled. Fifty seven patients completed the study protocol. Nineteen patients were randomized to each group. Withdrawal headache on the 5th day was absent in 21.0% of group A, in 31.6% of group B and in 12.5% of group C without significant differences. Withdrawal headache intensity decreased significantly after withdrawal without differences among the groups. Rregardless of withdrawal treatment, 52% MOH patients reverted to an episodic migraine and 62% had no more medication overuse after 3 months., Conclusions: This study suggests that in a population of severe MOH patients, withdrawal headache decreased significantly in the first 5 days of withdrawal regardless of the treatment used. Methylprednisolone and paracetamol are not superior to placebo at the end of the detoxification program.
- Published
- 2017
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39. Plasma and White Blood Cells Show Different miRNA Expression Profiles in Parkinson's Disease.
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Schwienbacher C, Foco L, Picard A, Corradi E, Serafin A, Panzer J, Zanigni S, Blankenburg H, Facheris MF, Giannini G, Falla M, Cortelli P, Pramstaller PP, and Hicks AA
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- Antiparkinson Agents therapeutic use, Biomarkers blood, Female, Humans, Levodopa therapeutic use, Male, MicroRNAs blood, MicroRNAs metabolism, Parkinson Disease drug therapy, Leukocytes metabolism, MicroRNAs genetics, Parkinson Disease blood
- Abstract
Parkinson's disease (PD) diagnosis is based on the assessment of motor symptoms, which manifest when more than 50% of dopaminergic neurons are degenerated. To date, no validated biomarkers are available for the diagnosis of PD. The aims of the present study are to evaluate whether plasma and white blood cells (WBCs) are interchangeable biomarker sources and to identify circulating plasma-based microRNA (miRNA) biomarkers for an early detection of PD. We profiled plasma miRNA levels in 99 L-dopa-treated PD patients from two independent data collections, in ten drug-naïve PD patients, and in unaffected controls matched by sex and age. We evaluated expression levels by reverse transcription and quantitative real-time PCR (RT-qPCR) and combined the results from treated PD patients using a fixed effect inverse-variance weighted meta-analysis. We revealed different expression profiles comparing plasma and WBCs and drug-naïve and L-dopa-treated PD patients. We observed an upregulation trend for miR-30a-5p in L-dopa-treated PD patients and investigated candidate target genes by integrated in silico analyses. We could not analyse miR-29b-3p, normally expressed in WBCs, due to the very low expression in plasma. We observed different expression profiles in WBCs and plasma, suggesting that they are both suitable but not interchangeable peripheral sources for biomarkers. We revealed miR-30a-5p as a potential biomarker for PD in plasma. In silico analyses suggest that miR-30a-5p might have a regulatory role in mitochondrial dynamics and autophagy. Further investigations are needed to confirm miR-30a-5p deregulation and targets and to investigate the influence of L-dopa treatment on miRNA expression levels.
- Published
- 2017
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40. White matter and cortical changes in atypical parkinsonisms: A multimodal quantitative MR study.
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Zanigni S, Evangelisti S, Testa C, Manners DN, Calandra-Buonaura G, Guarino M, Gabellini A, Gramegna LL, Giannini G, Sambati L, Cortelli P, Lodi R, and Tonon C
- Subjects
- Adult, Aged, Aged, 80 and over, Analysis of Variance, Female, Humans, Image Processing, Computer-Assisted, Male, Middle Aged, Cerebral Cortex diagnostic imaging, Magnetic Resonance Imaging, Multiple System Atrophy diagnostic imaging, Parkinson Disease diagnostic imaging, Supranuclear Palsy, Progressive diagnostic imaging, White Matter diagnostic imaging
- Abstract
Objectives: To evaluate white matter and cortical changes in patients with parkinsonisms and healthy controls (HC), applying both hypothesis-free and regions of interest (ROI)-based advanced brain MR analyses., Methods: Twenty-five patients with Progressive Supranuclear Palsy - Richardson's Syndrome (PSP-RS), nine with cerebellar and nine with parkinsonian Multiple System Atrophy variants (MSA-C and MSA-P), forty-seven with Parkinson's Disease (PD) and twenty-seven HC underwent a 1.5 T brain-MR protocol including high-resolution 3D T1-weighted and 25-direction diffusion tensor imaging sequences. We performed cortical and white matter analysis by using vertex-based cortical thickness evaluation and Tract Based Spatial Statistics (TBSS), followed by a ROI-based cortical thickness analysis and probabilistic tractography of cortico-spinal tract (CST), and middle and superior cerebellar peduncles (MCP and SCP)., Results: In PSP-RS, both ROIs-based and voxel-wise analyses demonstrated significant thinning of the pre-central cortices and diffuse white matter alterations involving supra- and infratentorial compartments. Along-tract tractography analysis of CST showed a significantly higher MD in PSP-RS vs PD and HC limited to the portion of the tract within the corona radiata. In MSA-C, a predominant involvement of MCPs was evident, while alterations in MCPs in MSA-P and in SCPs in PSP-RS and MSA-C were also present., Conclusion: Specific patterns of cortical and white matter changes in atypical parkinsonism patients reflect the neuropathological and clinical features of these disorders. This study shows that quantitative brain MR techniques can detect significant changes that help to elucidate the physiopathology of movement disorders and support their differential diagnosis., (Copyright © 2017 Elsevier Ltd. All rights reserved.)
- Published
- 2017
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41. The effect of diffusion gradient direction number on corticospinal tractography in the human brain: an along-tract analysis.
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Testa C, Evangelisti S, Popeo M, Zanigni S, Gramegna LL, Fantazzini P, Tonon C, Manners DN, and Lodi R
- Subjects
- Adult, Aged, Anisotropy, Data Interpretation, Statistical, Female, Humans, Image Enhancement methods, Male, Middle Aged, Reproducibility of Results, Sensitivity and Specificity, Brain anatomy & histology, Brain diagnostic imaging, Diffusion Tensor Imaging methods, Image Interpretation, Computer-Assisted methods, Pyramidal Tracts anatomy & histology, Pyramidal Tracts diagnostic imaging
- Abstract
Objectives: We evaluated diffusion imaging measures of the corticospinal tract obtained with a probabilistic tractography algorithm applied to data of two acquisition protocols based on different numbers of diffusion gradient directions (NDGDs)., Materials and Methods: The corticospinal tracts (CST) of 18 healthy subjects were delineated using 22 and 66-NDGD data. An along-tract analysis of diffusion metrics was performed to detect possible local differences due to NDGD., Results: FA values at 22-NDGD showed an increase along the central portion of the CST. The mean of partial volume fraction of the orientation of the second fiber (f2) was higher at 66-NDGD bilaterally, because for 66-NDGD data the algorithm more readily detects dominant fiber directions beyond the first, thus the increase in FA at 22-NDGD is due to a substantially reduced detection of crossing fiber volume. However, the good spatial correlation between the tracts drawn at 22 and 66 NDGD shows that the extent of the tract can be successfully defined even at lower NDGD., Conclusions: Given the spatial tract localization obtained even at 22-NDGD, local analysis of CST can be performed using a NDGD compatible with clinical protocols. The probabilistic approach was particularly powerful in evaluating crossing fibers when present.
- Published
- 2017
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42. Magnetic Resonance Parkinsonism Index: diagnostic accuracy of a fully automated algorithm in comparison with the manual measurement in a large Italian multicentre study in patients with progressive supranuclear palsy.
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Nigro S, Arabia G, Antonini A, Weis L, Marcante A, Tessitore A, Cirillo M, Tedeschi G, Zanigni S, Calandra-Buonaura G, Tonon C, Pezzoli G, Cilia R, Zappia M, Nicoletti A, Cicero CE, Tinazzi M, Tocco P, Cardobi N, and Quattrone A
- Subjects
- Aged, Female, Humans, Magnetic Resonance Imaging methods, Magnetic Resonance Spectroscopy standards, Male, Middle Aged, Reproducibility of Results, Sensitivity and Specificity, Algorithms, Parkinson Disease diagnosis, Supranuclear Palsy, Progressive diagnosis
- Abstract
Objectives: To investigate the reliability of a new in-house automatic algorithm for calculating the Magnetic Resonance Parkinsonism Index (MRPI), in a large multicentre study population of patients affected by progressive supranuclear palsy (PSP) or Parkinson's disease (PD), and healthy controls (HC), and to compare the diagnostic accuracy of the automatic and manual MRPI values., Methods: The study included 88 PSP patients, 234 PD patients and 117 controls. MRI was performed using both 3T and 1.5T scanners. Automatic and manual MRPI values were evaluated, and accuracy of both methods in distinguishing PSP from PD and controls was calculated., Results: No statistical differences were found between automated and manual MRPI values in all groups. The automatic MRPI values differentiated PSP from PD with an accuracy of 95 % (manual MRPI accuracy 96 %) and 97 % (manual MRPI accuracy 100 %) for 1.5T and 3T scanners, respectively., Conclusion: Our study showed that the new in-house automated method for MRPI calculation was highly accurate in distinguishing PSP from PD. Our automatic approach allows a widespread use of MRPI in clinical practice and in longitudinal research studies., Key Points: • A new automatic method for calculating the MRPI is presented. • Automatic MRPI values are in good agreement with manual values. • Automatic MRPI can distinguish patients with PSP from patients with PD. • The automatic method overcomes MRPI application limitations in routine practice. • The automatic method may allow a more widespread use of MRPI.
- Published
- 2017
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43. Brain structural profile of multiple system atrophy patients with cognitive impairment.
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Fiorenzato E, Weis L, Seppi K, Onofrj M, Cortelli P, Zanigni S, Tonon C, Kaufmann H, Shepherd TM, Poewe W, Krismer F, Wenning G, Antonini A, and Biundo R
- Subjects
- Female, Gray Matter diagnostic imaging, Humans, Imaging, Three-Dimensional, Magnetic Resonance Imaging, Male, Mental Status and Dementia Tests, Middle Aged, Multiple System Atrophy psychology, Neuroimaging, Organ Size, Pattern Recognition, Automated, Retrospective Studies, White Matter diagnostic imaging, Brain diagnostic imaging, Cognitive Dysfunction complications, Cognitive Dysfunction diagnostic imaging, Multiple System Atrophy complications, Multiple System Atrophy diagnostic imaging
- Abstract
Current consensus diagnostic criteria for multiple system atrophy (MSA) consider dementia a non-supporting feature, although cognitive impairment and even frank dementia are reported in clinical practice. Mini-Mental State Examination (MMSE) is a commonly used global cognitive scale, and in a previous study, we established an MSA-specific screening cut-off score <27 to identify cognitive impairment. Finally, MSA neuroimaging findings suggest the presence of structural alterations in patients with cognitive deficits, although the extent of the anatomical changes is unclear. The aim of our multicenter study is to better characterize anatomical changes associated with cognitive impairment in MSA and to further investigate cortical and subcortical structural differences versus healthy controls (HC). We examined retrospectively 72 probable MSA patients [50 with normal cognition (MSA-NC) and 22 cognitively impaired (MSA-CI) based on MMSE <27] and compared them to 36 HC using gray- and white-matter voxel-based morphometry and fully automated subcortical segmentation. Compared to HC, MSA patients showed widespread cortical (bilateral frontal, occipito-temporal, and parietal areas), subcortical, and white-matter alterations. However, MSA-CI showed only focal volume reduction in the left dorsolateral prefrontal cortex compared with MSA-NC. These results suggest only a marginal contribution of cortical pathology to cognitive deficits. We believe that cognitive dysfunction is driven by focal fronto-striatal degeneration in line with the concept of "subcortical cognitive impairment".
- Published
- 2017
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44. Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.
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Gramegna LL, Tonon C, Manners DN, Pini A, Rinaldi R, Zanigni S, Bianchini C, Evangelisti S, Fortuna F, Carelli V, Testa C, and Lodi R
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- Adolescent, Adult, Aspartic Acid analogs & derivatives, Aspartic Acid metabolism, Cerebellum drug effects, Child, Choline metabolism, Female, Friedreich Ataxia drug therapy, Humans, Linear Models, Male, Middle Aged, Neuroprotective Agents therapeutic use, Severity of Illness Index, Ubiquinone analogs & derivatives, Ubiquinone therapeutic use, Young Adult, Cerebellum diagnostic imaging, Cerebellum metabolism, Diffusion Magnetic Resonance Imaging, Friedreich Ataxia diagnostic imaging, Friedreich Ataxia metabolism, Proton Magnetic Resonance Spectroscopy
- Abstract
Friedreich's ataxia (FRDA) is the commonest autosomal recessive ataxia, caused by GAA triplet expansion in the frataxin gene. Neuropathological studies in FRDA demonstrate that besides the primary neurodegeneration of the dorsal root ganglia, there is a progressive atrophy of the cerebellar dentate nucleus. Diffusion-weighted imaging (DWI) detected microstructural alterations in the cerebellum of FRDA patients. To investigate the biochemical basis of these alterations, we used both DWI and proton MR spectroscopy (
1 H-MRS) to study the same cerebellar volume of interest (VOI) including the dentate nucleus. DWI and1 H-MRS study of the left cerebellar hemisphere was performed in 28 genetically proven FRDA patients and 35 healthy controls. In FRDA mean diffusivity (MD) values were calculated for the same1 H-MRS VOI. Clinical severity was evaluated using the International Cooperative Ataxia Rating Scale (ICARS). FRDA patients showed a significant reduction of N-acetyl-aspartate (NAA), a neuroaxonal marker, and choline (Cho), a membrane marker, both expressed relatively to creatine (Cr), and increased MD values. In FRDA patients NAA/Cr negatively correlated with MD values (r = -0.396, p = 0.037) and with ICARS score (r = -0.669, p < 0.001). Age-normalized NAA/Cr loss correlated with the GAA expansion (r = -0.492, p = 0.008). The reduced cerebellar NAA/Cr in FRDA suggests that neuroaxonal loss is related to the microstructural changes determining higher MD values. The correlation between NAA/Cr and the severity of disability suggests that this biochemical in vivo MR parameter might be a useful biomarker to evaluate therapeutic interventions.- Published
- 2017
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45. Precuneal Thickness and Depression in Parkinson Disease.
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Zanigni S, Sambati L, Evangelisti S, Testa C, Calandra-Buonaura G, Manners DN, Terlizzi R, Poda R, Oppi F, Lodi R, Cortelli P, and Tonon C
- Subjects
- Adult, Aged, Cerebral Cortex diagnostic imaging, Cerebral Cortex pathology, Depression diagnostic imaging, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Parietal Lobe diagnostic imaging, Parkinson Disease diagnostic imaging, Depression etiology, Depression pathology, Parietal Lobe pathology, Parkinson Disease complications, Parkinson Disease pathology
- Abstract
Background: Depression-related gray matter changes in Parkinson disease (PD) patients have been reported, although studies investigating cortical thickness in early-stage disease are lacking., Objective: We aimed to evaluate cortical changes related to depression in early-stage PD patients with an extensive neuropsychological evaluation., Methods: 17 PD patients and 22 healthy controls underwent a 1.5-T brain MR protocol, and voxel-wise differences in cortical thickness among patients with (n = 6) and without (n = 11) depression and controls were evaluated using FreeSurfer software., Results: Cortical thickness was increased in the precuneus bilaterally in PD patients with depression compared to the other groups (number of vertices >100; p < 0.001, uncorrected) with a direct correlation with the Beck Depression Inventory score (p < 0.001, uncorrected)., Conclusion: Precuneal cortical thickening is evident in PD patients with mild-moderate depression even in the early stages of the disease. This finding may reflect the early involvement of this region in the development of PD-related depression., (© 2016 S. Karger AG, Basel.)
- Published
- 2017
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46. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
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Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, and Lupski JR
- Subjects
- ATPases Associated with Diverse Cellular Activities, Adult, Animals, Axons pathology, Cardiomyopathies genetics, Child, Child, Preschool, DNA Copy Number Variations genetics, Developmental Disabilities genetics, Drosophila melanogaster genetics, Female, Fibroblasts, Homozygote, Humans, Infant, Infant, Newborn, Male, Muscle Hypotonia genetics, Muscles pathology, Nervous System Diseases metabolism, Nervous System Diseases pathology, Neurons pathology, Optic Atrophy genetics, Phenotype, Polymorphism, Single Nucleotide genetics, Syndrome, Young Adult, Adenosine Triphosphatases genetics, Alleles, Membrane Proteins genetics, Mitochondria metabolism, Mitochondria pathology, Mitochondrial Proteins genetics, Mutation, Nervous System Diseases genetics
- Abstract
ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. We also describe two families with biallelic variants in ATAD3A, including a homozygous variant in two siblings, and biallelic ATAD3A deletions mediated by nonallelic homologous recombination (NAHR) between ATAD3A and gene family members ATAD3B and ATAD3C. Tissue-specific overexpression of bor
R534W , the Drosophila mutation homologous to the human c.1582C>T (p.Arg528Trp) variant, resulted in a dramatic decrease in mitochondrial content, aberrant mitochondrial morphology, and increased autophagy. Homozygous null bor larvae showed a significant decrease of mitochondria, while overexpression of borWT resulted in larger, elongated mitochondria. Finally, fibroblasts of an affected individual exhibited increased mitophagy. We conclude that the p.Arg528Trp variant functions through a dominant-negative mechanism that results in small mitochondria that trigger mitophagy, resulting in a reduction in mitochondrial content. ATAD3A variation represents an additional link between mitochondrial dynamics and recognizable neurological syndromes, as seen with MFN2, OPA1, DNM1L, and STAT2 mutations., (Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)- Published
- 2016
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47. Accuracy of MR markers for differentiating Progressive Supranuclear Palsy from Parkinson's disease.
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Zanigni S, Calandra-Buonaura G, Manners DN, Testa C, Gibertoni D, Evangelisti S, Sambati L, Guarino M, De Massis P, Gramegna LL, Bianchini C, Rucci P, Cortelli P, Lodi R, and Tonon C
- Subjects
- Aged, Aged, 80 and over, Female, Humans, Image Processing, Computer-Assisted, Longitudinal Studies, Male, Middle Aged, ROC Curve, Retrospective Studies, Brain diagnostic imaging, Brain Mapping, Magnetic Resonance Imaging, Parkinson Disease diagnostic imaging, Supranuclear Palsy, Progressive diagnostic imaging
- Abstract
Background: Advanced brain MR techniques are useful tools for differentiating Progressive Supranuclear Palsy from Parkinson's disease, although time-consuming and unlikely to be used all together in routine clinical work. We aimed to compare the diagnostic accuracy of quantitative morphometric, volumetric and DTI metrics for differentiating Progressive Supranuclear Palsy-Richardson's Syndrome from Parkinson's disease., Methods: 23 Progressive Supranuclear Palsy-Richardson's Syndrome and 42 Parkinson's disease patients underwent a standardized 1.5T brain MR protocol comprising high-resolution T1W1 and DTI sequences. Brainstem and cerebellar peduncles morphometry, automated volumetric analysis of brain deep gray matter and DTI metric analyses of specific brain structures were carried out. We determined diagnostic accuracy, sensitivity and specificity of MR-markers with respect to the clinical diagnosis by using univariate receiver operating characteristics curve analyses. Age-adjusted multivariate receiver operating characteristics analyses were then conducted including only MR-markers with a sensitivity and specificity exceeding 80%., Results: Morphometric markers (midbrain area, pons to midbrain area ratio and MR Parkinsonism Index), DTI parameters (infratentorial structures) and volumetric analysis (thalamus, putamen and pallidus nuclei) presented moderate to high diagnostic accuracy in discriminating Progressive Supranuclear Palsy-Richardson's Syndrome from Parkinson's disease, with midbrain area showing the highest diagnostic accuracy (99%) (mean ± standard deviation: 75.87 ± 16.95 mm(2) vs 132.45 ± 20.94 mm(2), respectively; p < 0.001)., Conclusion: Although several quantitative brain MR markers provided high diagnostic accuracy in differentiating Progressive Supranuclear Palsy-Richardson's Syndrome from Parkinson's disease, the morphometric assessment of midbrain area is the best single diagnostic marker and should be routinely included in the neuroradiological work-up of parkinsonian patients.
- Published
- 2016
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48. Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1.
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Zanigni S, Evangelisti S, Giannoccaro MP, Oppi F, Poda R, Giorgio A, Testa C, Manners DN, Avoni P, Gramegna LL, De Stefano N, Lodi R, Tonon C, and Liguori R
- Subjects
- Adult, Brain Mapping, Case-Control Studies, Female, Gray Matter diagnostic imaging, Humans, Imaging, Three-Dimensional, Magnetic Resonance Imaging, Male, Middle Aged, Neuropsychological Tests, Severity of Illness Index, Statistics, Nonparametric, White Matter diagnostic imaging, Gray Matter pathology, Myotonic Dystrophy genetics, Myotonic Dystrophy pathology, Myotonin-Protein Kinase genetics, Trinucleotide Repeat Expansion genetics, White Matter pathology
- Abstract
Background: Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described. We aimed to evaluate in the brain of adult patients with DM1 (i) white and gray matter differences, including cortical-subcortical gray matter volume and cortical thickness and (ii) their correlation with clinical disability, global neuropsychological performance and triplet expansion., Methods: We included 24 adult genetically-confirmed DM1 patients (14 males; age: 38.5 ± 11.8 years) and 25 age- and sex-matched healthy controls (14 males; age: 38.5 ± 11.3 years) who underwent an identical brain MR protocol including high-resolution 3D T1-weighted, axial T2 FLAIR and DTI sequences. All patients underwent an extensive clinical and neuropsychological evaluation. Voxel-wise analyses of white matter, performed by using Tract Based Spatial Statistics, and of gray matter, with Voxel-based Morphometry and Cortical Thickness, were carried out in order to test for differences between patients with DM1 and healthy controls (p < 0.05, corrected). The correlation between MRI measures and clinical-genetic features was also assessed., Results: Patients with DM1 showed widespread abnormalities of all DTI parameters in the white matter, which were associated with reduced gray matter volume in all brain lobes and thinning in parieto-temporo-occipital cortices, albeit with less extensive cortical alterations when congenital cases were removed from the analyses. White matter alterations correlated with clinical disability, global cognitive performance and triplet expansions., Conclusion: In patients with DM1, the combined smaller overall gray matter volume and white matter alterations seem to be the main morpho-structural substrates of CNS involvement in this condition. The correlation of white matter differences with both clinical and genetic findings lends support to this notion.
- Published
- 2016
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49. A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings.
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Terlizzi R, Calandra-Buonaura G, Zanigni S, Barletta G, Capellari S, Guaraldi P, Donadio V, Cason E, Contin M, Poda R, Tonon C, Sambati L, Gallassi R, Liguori R, Lodi R, and Cortelli P
- Subjects
- Autonomic Nervous System Diseases genetics, Executive Function, Female, Gene Duplication, Humans, Lamin Type B genetics, Longitudinal Studies, Male, Middle Aged, Neuropsychological Tests, Pedigree, Pelizaeus-Merzbacher Disease genetics, Autonomic Nervous System Diseases physiopathology, Autonomic Nervous System Diseases psychology, Pelizaeus-Merzbacher Disease physiopathology, Pelizaeus-Merzbacher Disease psychology
- Abstract
Background and Purpose: Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare progressive neurological disorder caused by Lamin B1 duplication (LMNB1). Our aim was to investigate longitudinally the pattern of the autonomic dysfunction and the degree of neuropsychological involvement., Methods: Three related ADLD patients and one asymptomatic carrier of LMNB1 duplication underwent a standardized evaluation of autonomic nervous system, including cardiovascular reflexes, pharmacological testing, microneurography, skin biopsy, Metaiodobenzylguanidine scintigraphy and a complete neuropsychological battery., Results: An early neurogenic orthostatic hypotension was detected in all patients and confirmed by a low rise in noradrenaline levels on Tilt Test. However infusion of noradrenaline resulted in normal blood pressure rise as well as the infusion of clonidine. At the insulin tolerance test the increase in adrenaline resulted pathological in two out three patients. Microneurography failed to detect muscle sympathetic nerve activity bursts. Skin biopsy revealed a poor adrenergic innervation, while cardiac sympathetic nerves were normal. None of ADLD patients showed a global cognitive deficit but a selective impairment in the executive functions., Conclusion: Autonomic disorder in ADLD involves selectively the postganglionic sympathetic system including the sympatho-adrenal response. Cognitive involvement consisting in an early impairment of executive tasks that might precede brain MR abnormalities., (Copyright © 2016 Elsevier B.V. All rights reserved.)
- Published
- 2016
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50. Brain MR Contribution to the Differential Diagnosis of Parkinsonian Syndromes: An Update.
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Rizzo G, Zanigni S, De Blasi R, Grasso D, Martino D, Savica R, and Logroscino G
- Abstract
Brain magnetic resonance (MR) represents a useful and feasible tool for the differential diagnosis of Parkinson's disease. Conventional MR may reveal secondary forms of parkinsonism and may show peculiar brain alterations of atypical parkinsonian syndromes. Furthermore, advanced MR techniques, such as morphometric-volumetric analyses, diffusion-weighted imaging, diffusion tensor imaging, tractography, proton MR spectroscopy, and iron-content sensitive imaging, have been used to obtain quantitative parameters useful to increase the diagnostic accuracy. Currently, many MR studies have provided both qualitative and quantitative findings, reflecting the underlying neuropathological pattern of the different degenerative parkinsonian syndromes. Although the variability in the methods and results across the studies limits the conclusion about which technique is the best, specific radiologic phenotypes may be identified. Qualitative/quantitative MR changes in the substantia nigra do not discriminate between different parkinsonisms. In the absence of extranigral abnormalities, the diagnosis of PD is more probable, whereas basal ganglia changes (mainly in the putamen) suggest the diagnosis of an atypical parkinsonian syndrome. In this context, changes in pons, middle cerebellar peduncles, and cerebellum suggest the diagnosis of MSA, in midbrain and superior cerebellar peduncles the diagnosis of PSP, and in whole cerebral hemispheres (mainly in frontoparietal cortex with asymmetric distribution) the diagnosis of Corticobasal Syndrome.
- Published
- 2016
- Full Text
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