Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
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Published:2024-06-17
Issue:8
Volume:271
Page:5478-5488
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ISSN:0340-5354
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Container-title:Journal of Neurology
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language:en
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Short-container-title:J Neurol
Author:
Satolli Sara, Rossi Salvatore, Vegezzi Elisa, Pellerin David, Manca Maria Laura, Barghigiani Melissa, Battisti Carla, Bilancieri Giusi, Bruno Giorgia, Capacci Elena, Casali Carlo, Ceravolo Roberto, Cocozza Sirio, Cotti Piccinelli Stefano, Criscuolo Chiara, Danzi Matt C., De Micco Rosa, De Michele Giuseppe, Dicaire Marie-Josée, Falcone Grazia Maria Igea, Fancellu Roberto, Ferchichi Yasmine, Ferrari Camilla, Filla Alessandro, Fini Nicola, Govoni Alessandra, Lo Vecchio Filomena, Malandrini Alessandro, Mignarri Andrea, Musumeci Olimpia, Nesti Claudia, Pappatà Sabina, Pellecchia Maria Teresa, Perna Alessia, Petrucci Antonio, Pomponi Maria Grazia, Ravenni Roberta, Ricca Ivana, Rufa Alessandra, Tabolacci Elisabetta, Tessa Alessandra, Tessitore Alessandro, Zuchner Stephan, Silvestri Gabriella, Cortese Andrea, Brais Bernard, Santorelli Filippo M.ORCID
Funder
Ministero della Salute
Publisher
Springer Science and Business Media LLC
Reference36 articles.
1. Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ et al (2023) Deep Intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med 388(2):128–141 2. Pellerin D, Danzi MC, Renaud M, Houlden H, Synofzik M, Zuchner S et al (2024) Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia. Clin Transl Med. https://doi.org/10.1002/ctm2.1504 3. Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C et al (2024) Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 99:104931 4. Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ et al (2023) GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain 146(10):4144–4157 5. Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A et al (2023) Natural history and phenotypic spectrum of GAA-FGF14 sporadic late-onset cerebellar ataxia (SCA27B). Mov Disord 38(10):1950–1956
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