Does Spinocerebellar Ataxia 27B Mimic Cerebellar Multiple System Atrophy?

Overview

Journal J Neurol

Specialty Neurology

Date 2024 Jan 24

PMID 38263489

Authors

Thomas Wirth

Celine Bonnet

Clarisse Delvallee

David Pellerin

Thomas Bogdan

Guillemette Clement

Audrey Schalk

Jean-Baptiste Chanson

Marie-Celine Fleury

Amelie Piton

Nadege Calmels

Izzie Jacques Namer

Stephane Kremer

Bernard Brais

Christine Tranchant

Mathilde Renaud

Mathieu Anheim

Affiliations

Soon will be listed here.

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) 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) 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) expansion may account for MSA look-alike cases and should be screened among slow progressors.

Citing Articles

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How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.

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Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.

Kakumoto T, Orimo K, Matsukawa T, Mitsui J, Ishihara T, Onodera O Eur J Hum Genet. 2024; 33(3):325-333.

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Li X, Lai H, Li X, Xu F, Song Y, Wang Z Eur J Neurol. 2024; 31(12):e16441.

PMID: 39152783 PMC: 11555020. DOI: 10.1111/ene.16441.

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