X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis.
Three generations of a family exhibit a unique syndrome of X-linked ataxia, pyramidal tract signs, and adult-onset dementia. Initial signs, manifested by 2 to 3 years of age, are delayed walking and tremor. During their teens, the patients develop mild but progressive ataxia and pyramidal tract signs. Memory problems in the third decade initiate a progressive dementia, leading to death in the sixth decade. Laboratory investigations failed to disclose a biochemical basis for the syndrome. Preliminary molecular linkage studies have been conducted, and although the specific position of the responsible gene on the X chromosome has not yet been determined, the q26-qter region and much of the p arm are unlikely sites for this gene. The linkage studies are continuing.
Farlow
M R
MR
DeMyer
W
W
Dlouhy
S R
SR
Hodes
M E
ME
D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D003704:Dementia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D013132:Spinocerebellar Degenerations / Q000235:genetics; D014960:X Chromosome