Early onset autosomal dominant spinocerebellar ataxia with miosis: Four cases
2008 (English)In: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 12, no 1, 38-40 p.Article in journal (Other academic) Published
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.
Place, publisher, year, edition, pages
London: Saunders , 2008. Vol. 12, no 1, 38-40 p.
Spinocerebellar ataxia (SCA), autosomal dominant, miosis, hyperreflexia
Medical and Health Sciences
Research subject Medicine
IdentifiersURN: urn:nbn:se:umu:diva-8962DOI: 10.1016/j.ejpn.2007.03.007PubMedID: 17584505OAI: oai:DiVA.org:umu-8962DiVA: diva2:148633