Sex-linked recessive congenital ataxia.
A family is reported in which three boys, two full brothers and a half brother, presented with marked delay in motor milestones, severe limb and truncal ataxia, nystagmus, speech delay and moderate global retardation. Autosomal recessive and sex linked recessive forms of cerebellar hypoplasia are reviewed and it is suggested that this family may have a rare, if not unique, form of sex-linked cerebellar ataxia.
Young
I D
ID
Department of Child Health, Leicester Royal Infirmary, UK.
Moore
J R
JR
Tripp
J H
JH
D000293:Adolescent; D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome