Familial dystonia and visual failure with striatal CT lucencies.
A unique disorder is described in seven members of two families in whom dystonia was variably associated with subacute visual loss or asymptomatic optic atrophy, and striking bilateral symmetrical lucencies on CT scan, especially involving the putamen. It is possible that this is a variant of Leigh's disease. However, there were considerable differences between these patients and those with pathologically proven Leigh's disease. This condition must be excluded in all patients thought to have idiopathic dystonia, subacute visual failure similar to Leber's optic neuropathy, or a combination of these disorders.
Marsden
C D
CD
Lang
A E
AE
Quinn
N P
NP
McDonald
W I
WI
Abdallat
A
A
Nimri
S
S
D000293:Adolescent; D000328:Adult; D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D002675:Child, Preschool; D003342:Corpus Striatum; D003937:Diagnosis, Differential; D004421:Dystonia / Q000235:genetics*; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis; D008297:Male; D009901:Optic Nerve Diseases / Q000175:diagnosis; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014786:Vision Disorders / Q000235:genetics*