A new autosomal dominant pure cerebellar ataxia

Autor: Susan M. Forrest, Melanie A. Knight, Garth A. Nicholson, Roger Tuck, Marina L. Kennerson, Elsdon Storey, R J M Gardner
Rok vydání: 2001
Předmět:
Zdroj: Neurology. 57(10)
ISSN: 0028-3878
Popis: A kindred is described with a dominantly inherited "pure" cerebellar ataxia in which the currently known spinocerebellar ataxias have been excluded. In the eight subjects studied, a notable clinical feature is slow progression, with the three least affected having only a mild degree of gait ataxia after three or more decades of disease duration. Pending an actual chromosomal locus discovery, the name spinocerebellar ataxia (SCA)15 is expectantly applied.
Databáze: OpenAIRE