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.
Timby
Niklas
N
Department of Pediatrics, Umeå University Hospital, Sweden. niklas.timby@vll.se
Stattin
Eva-Lena
EL
Kristiansen
Ingela
I
Eriksson
Urban
U
Erikson
Anders
A
D000328:Adult; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D015877:Miosis / Q000150:complications* / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000235:genetics