Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia

• Autor(a) principal: Coutinho, P.
• Data de Publicação: 2006
• Outros Autores: Cruz, V., Tuna, A., Silva, S., Guimarães, J.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.16/535

Background: Although mentioned in most series, “pure” autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds. Objective: To describe Portuguese families with a peculiar pure form of dominant ataxia that, to our knowledge, has never been documented before and in which cerebellar signs are preceded by spasmodic cough. Patients: Through a population-based survey of hereditary ataxias in Portugal, we identified 19 patients in 6 families with this particular disorder. Results: The majority of patients had a pure late-onset ataxia with a benign evolution. In all of the families, attacks of spasmodic coughing preceded ataxia for 1 to 3 decades and were a reliable marker of the disease. In Portugal, this form of ataxia accounts for 2.7% of all of the dominant ataxias. Conclusions: The families that we describe shared some relevant clinical and imagiological features with spinocerebellar ataxia type 5 and the recently described spinocerebellar ataxia type 20, allelic to spinocerebellar ataxia type 5. Spinocerebellar ataxia types 5 and 20 could be different phenotypic expressions of the same molecular disorder. The association of a dominant ataxia with spasmodic cough is rare but probably underdiagnosed.