Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis.
We report a mother and daughter with congenital cerebellar ataxia and normal intelligence. Computed tomography revealed localized atrophy of the cerebellar vermis. This is the second case report of dominantly inherited, nonprogressive, congenital cerebellar ataxia.
Tomiwa
K
K
Department of Clinical Genetics, Hospital for Sick Children, London, United Kingdom.
Baraitser
M
M
Wilson
J
J
D001284:Atrophy; D002524:Cerebellar Ataxia / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007360:Intelligence; D014057:Tomography, X-Ray Computed