Cerebellar Ataxia With Spasmodic Cough

Abstract

Autosomal dominant cerebellar ataxias have considerable variation and overlapping phenotypes. Cerebellar ataxia is obviously the core feature of the disease, and in some “pure” forms, it is its only manifestation. In a few families, paroxistic manifestations precede the cerebellar syndrome, as in the case of hemiplegic migraine in spinocerebellar ataxia (SCA) type 6. In recent years, we have been progressively aware of the association of dominant ataxia with spasmodic cough in a few kindreds. We describe the clinical presentation of 6 Portuguese families with this particular form and discuss possible links with SCA5 and the recently described SCA20 (allelic to SCA5).