학술논문
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
Document Type
Article
Author
Wirth, Thomas; Bonnet, Céline; Delvallée, Clarisse; Pellerin, David; Bogdan, Thomas; Clément, Guillemette; Schalk, Audrey; Chanson, Jean-Baptiste; Fleury, Marie-Céline; Piton, Amélie; Calmels, Nadège; Namer, Izzie Jacques; Kremer, Stéphane; Brais, Bernard; Tranchant, Christine; Renaud, Mathilde; Anheim, Mathieu
Source
Subject
*MULTIPLE system atrophy
*SPINOCEREBELLAR ataxia
*CEREBELLUM degeneration
*CEREBELLAR ataxia
*SYMPTOMS
*MEDICAL screening
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Language
ISSN
0340-5354
Abstract
Background: Whether spinocerebellar ataxia 27B (SCA27B) may present as a cerebellar multiple system atrophy (MSA-C) mimic remains undetermined. Objectives: To assess the prevalence of FGF14 (GAA)≥250 expansions in patients with MSA-C, to compare SCA27B and MSA-C clinical presentation and natural history. Methods: FGF14 expansion screening combined with longitudinal deep-phenotyping in a prospective cohort of 195 patients with sporadic late-onset cerebellar ataxia. Results: After a mean disease duration of 6.4 years, 111 patients were not meeting criteria for MSA-C while 24 and 60 patients had a final diagnosis of possible and probable MSA-C, respectively. 16 patients carried an FGF14 (GAA)≥250 expansion in the group not meeting MSA-C criteria (14.4%), 3 patients in the possible MSA-C group (12.5%), but none among probable MSA-C cases. SCA27B patients were evolving more slowly than probable MSA-C patients. Conclusions: FGF14 (GAA)≥250 expansion may account for MSA look-alike cases and should be screened among slow progressors. [ABSTRACT FROM AUTHOR]