Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

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 hist...

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Published in:Journal of neurology 2024-04, Vol.271 (4), p.2078-2085
Main Authors: 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
Format: Article
Language:English
Subjects:
Ataxia
Atrophy
Cerebellar ataxia
Cerebellum
Disease
Genetics
Hospitals
Medicine
Medicine & Public Health
Neurology
Neuromuscular diseases
Neuroradiology
Neurosciences
Neurosurgery
Patients
Phenotyping
Scintigraphy
Short Commentary
Statistical analysis
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Summary: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.
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-024-12182-x