Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.

Autor: Satolli S; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy., Rossi S; Department of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy., Vegezzi E; Department of Brain and Behavioral Sciences, University of Pavia, 27100, Pavia, Italy.; IRCCS Mondino Foundation, 27100, Pavia, Italy., Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Canada., Manca ML; Department of Clinical and Experimental Medicine, Department of Mathematics, University of Pisa, Pisa, Italy., Barghigiani M; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy., Battisti C; Department of Medicine, Surgery and Neurosciences, Unit of Neurology and Neurometabolic Disorders, Azienda Ospedaliera Universitaria Senese, Università Di Siena, Siena, Italy., Bilancieri G; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy., Bruno G; Department of Neurosciences, Division of Pediatric Neurology, Santobono-Pausilipon Children's Hospital, Naples, Italy., Capacci E; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy., Casali C; Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Latina, Italy., Ceravolo R; Department of Clinical and Experimental Medicine, Center for Neurodegenerative Diseases-Parkinson's Disease and Movement Disorders, University of Pisa, Pisa, Italy., Cocozza S; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy., Cotti Piccinelli S; Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy., Criscuolo C; Department of Neurosciences Reproductive and Odontostomatological Sciences, CDCD Neurology, 'Federico II' University Hospital, Naples, Italy.; CDCD Neurology, 'Federico II' University Hospital, Naples, Italy., Danzi MC; Macdonald Foundation, Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., De Micco R; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., De Michele G; Department of Neurosciences Reproductive and Odontostomatological Sciences, CDCD Neurology, 'Federico II' University Hospital, Naples, Italy., Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Canada., Falcone GMI; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Fancellu R; UO Neurologia, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Ferchichi Y; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy., Ferrari C; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy., Filla A; Department of Neurosciences Reproductive and Odontostomatological Sciences, CDCD Neurology, 'Federico II' University Hospital, Naples, Italy., Fini N; Department of Neurosciences, Neurology Unit, Azienda Ospedaliero Universitaria Di Modena, Modena, Italy., Govoni A; Neuromuscular-Skeletal and Sensory Organs Department, AOU Careggi, Florence, Italy., Lo Vecchio F; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168, Rome, Italy., Malandrini A; Department of Medicine, Surgery and Neurosciences, Unit of Neurology and Neurometabolic Disorders, Azienda Ospedaliera Universitaria Senese, Università Di Siena, Siena, Italy., Mignarri A; Department of Medicine, Surgery and Neurosciences, Unit of Neurology and Neurometabolic Disorders, Azienda Ospedaliera Universitaria Senese, Università Di Siena, Siena, Italy., Musumeci O; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy., Nesti C; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy., Pappatà S; Institute of Biostructure and Bioimaging, National Research Council, Via T. De Amicis 95, 80145, Naples, Italy., Pellecchia MT; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Neuroscience Section, University of Salerno, Salerno, Italy., Perna A; Center for Neuromuscular and Neurological Rare Diseases, San Camillo Forlanini Hospital, Rome, Italy., Petrucci A; Center for Neuromuscular and Neurological Rare Diseases, San Camillo Forlanini Hospital, Rome, Italy., Pomponi MG; UOC Genetica Medica, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168, Rome, Italy., Ravenni R; Unità Operativa Complessa Di Neurologia E Neuroriabilitazione, Presidio Ospedaliero Di Abano Terme - Azienda ULSS, 6 Euganea, Padua, Italy., Ricca I; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy., Rufa A; Department of Medicine, Surgery and Neurosciences, Unit of Neurology and Neurometabolic Disorders, Azienda Ospedaliera Universitaria Senese, Università Di Siena, Siena, Italy., Tabolacci E; Dipartimento Universitario Scienze Della Vita E Sanità Pubblica, Sezione Di Medicina Genomica, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168, Rome, Italy., Tessa A; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy., Tessitore A; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Zuchner S; Macdonald Foundation, Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Silvestri G; Department of Neurosciences, Università Cattolica del Sacro Cuore, Rome, Italy.; UOC Neurologia Dipartimento Neuroscienze, Organi Di Senso E Torace, Fondazione Policlinico Universitario A Gemelli IRCCS, Rome, Italy., Cortese A; Department of Brain and Behavioral Sciences, University of Pavia, 27100, Pavia, Italy.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Canada., Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128, Pisa, Italy. filippo3364@gmail.com.; Department of Clinical and Experimental Medicine, Department of Mathematics, University of Pisa, Pisa, Italy. filippo3364@gmail.com.; CDCD Neurology, 'Federico II' University Hospital, Naples, Italy. filippo3364@gmail.com.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2024 Aug; Vol. 271 (8), pp. 5478-5488. Date of Electronic Publication: 2024 Jun 17.
DOI: 10.1007/s00415-024-12506-x
Abstrakt: Background: Autosomal-dominant spinocerebellar ataxia (ADCA) due to intronic GAA repeat expansion in FGF14 (SCA27B) is a recent, relatively common form of late-onset ataxia.
Objective: Here, we aimed to: (1) investigate the relative frequency of SCA27B in different clinically defined disease subgroups with late-onset ataxia collected among 16 tertiary Italian centers; (2) characterize phenotype and diagnostic findings of patients with SCA27B; (3) compare the Italian cohort with other cohorts reported in recent studies.
Methods: We screened 396 clinically diagnosed late-onset cerebellar ataxias of unknown cause, subdivided in sporadic cerebellar ataxia, ADCA, and multisystem atrophy cerebellar type. We identified 72 new genetically defined subjects with SCA27B. Then, we analyzed the clinical, neurophysiological, and imaging features of 64 symptomatic cases.
Results: In our cohort, the prevalence of SCA27B was 13.4% (53/396) with as high as 38.5% (22/57) in ADCA. The median age of onset of SCA27B patients was 62 years. All symptomatic individuals showed evidence of impaired balance and gait; cerebellar ocular motor signs were also frequent. Episodic manifestations at onset occurred in 31% of patients. Extrapyramidal features (17%) and cognitive impairment (25%) were also reported. Brain magnetic resonance imaging showed cerebellar atrophy in most cases (78%). Pseudo-longitudinal assessments indicated slow progression of ataxia and minimal functional impairment.
Conclusion: Patients with SCA27B in Italy present as an adult-onset, slowly progressive cerebellar ataxia with predominant axial involvement and frequent cerebellar ocular motor signs. The high consistency of clinical features in SCA27B cohorts in multiple populations paves the way toward large-scale, multicenter studies.
(© 2024. Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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