Early onset autosomal dominant spinocerebellar ataxia with miosis : Four cases

• 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)

Nyckelord

Spinocerebellar ataxia (SCA)

autosomal dominant

miosis

hyperreflexia

MEDICINE

MEDICIN

medicin

Medicine

Publikations- och innehållstyp

vet (ämneskategori)

art (ämneskategori)