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J Neurol ; 264(6): 1118-1126, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28478596

RESUMO

The management of sporadic late-onset cerebellar ataxias represents a very heterogeneous group of patients and remains a challenge for neurologist in clinical practice. We aimed at describing the different causes of sporadic late-onset cerebellar ataxias that were diagnosed following standardized, exhaustive investigations and the population characteristics according to the aetiologies as well as at evaluating the relevance of these investigations. All patients consecutively referred to our centre due to sporadic, progressive cerebellar ataxia occurring after 40 years of age were included in the prospective, observational study. 80 patients were included over a 2 year period. A diagnosis was established for 52 patients (65%) corresponding to 18 distinct causes, the most frequent being cerebellar variant of multiple system atrophy (n = 29). The second most frequent cause was inherited diseases (including spinocerebellar ataxias, late-onset Friedreich's disease, SLC20A2 mutations, FXTAS, MELAS, and other mitochondrial diseases) (n = 9), followed by immune-mediated or other acquired causes. The group of patient without diagnosis showed a slower worsening of ataxia (p < 0.05) than patients with multiple system atrophy. Patients with later age at onset experienced faster progression of ataxia (p = 0.001) and more frequently parkinsonism (p < 0.05) than patients with earlier onset. Brain MRI, DaT scan, genetic analysis and to some extent muscle biopsy, thoracic-abdominal-pelvic tomodensitometry, and cerebrospinal fluid analysis were the most relevant investigations to explore sporadic late-onset cerebellar ataxia. Sporadic late-onset cerebellar ataxias should be exhaustively investigated to identify the underlying causes that are numerous, including inherited causes, but dominated by multiple system atrophy.


Assuntos
Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/etiologia , Atrofia de Múltiplos Sistemas/complicações , Adulto , Idade de Início , Idoso , Encéfalo/diagnóstico por imagem , Canais de Cálcio/genética , Ataxia Cerebelar/genética , Ataxia Cerebelar/patologia , Eletromiografia , Feminino , Ataxia de Friedreich/complicações , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/diagnóstico por imagem , Mutação/genética , Condução Nervosa/fisiologia , Exame Neurológico , Proteínas Proto-Oncogênicas c-sis/genética , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Receptores Acoplados a Proteínas G/genética , Receptores Virais/genética , Estudos Retrospectivos , Índice de Gravidade de Doença , Ataxias Espinocerebelares/complicações , Estatísticas não Paramétricas , Receptor do Retrovírus Politrópico e Xenotrópico
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