Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?

期刊论文
发表日期：

2024年1月23日

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Thomas Wirth,
Céline Bonnet,
Clarisse Delvallée,
David Pellerin,
Thomas Bogdan,
Guillemette Clément,
Audrey Schalk,
Jean-Baptiste Chanson,
Marie-Céline Fleury,
Amélie Piton,
Nadège Calmels,
Izzie Jacques Namer,
Stéphane Kremer,
Bernard Brais,
Christine Tranchant,
Mathilde Renaud,
Mathieu Anheim

摘要

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.