Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
J Neurol
; 271(4): 2078-2085, 2024 Apr.
Article
em En
| MEDLINE
| ID: mdl-38263489
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Degenerações Espinocerebelares
/
Atrofia de Múltiplos Sistemas
/
Ataxias Espinocerebelares
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article