Format

Send to

Choose Destination
Eur J Paediatr Neurol. 2008 Jan;12(1):38-40. Epub 2007 Jun 20.

Early onset autosomal dominant spinocerebellar ataxia with miosis: four cases.

Author information

1
Department of Pediatrics, UmeƄ University Hospital, Sweden. niklas.timby@vll.se

Abstract

Previously, at least 29 different forms of autosomal dominant spinocerebellar ataxias (SCAs) have been described. We describe a family with four members through three generations with autosomal dominant ataxia in combination with miosis and hyperreflexia. This family's ataxia does not match any of the previously described SCAs and is probably a novel form of SCA. To continue with the search for the genetic background of this disease, more cases are needed.

PMID:
17584505
DOI:
10.1016/j.ejpn.2007.03.007
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center