Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome.
A mother and daughter with suspected dominantly inherited, early-onset, non-progressive cerebellar ataxia syndrome have been reported. A review of the literature and the clinical features of the present cases revealed the nosologic features of this rare disorder, possibly dominant inheritance, floppiness and delayed milestones preceding early-onset mild cerebellar ataxia, non-progressive clinical course, retained or even brisk tendon reflexes without pyramidal tract involvement, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective involvement of the cerebellum, which is prominent in the vermis and the anterior part of the hemispheres.
Imamura
S
S
Department of Pediatrics, Sapporo Municipal Developmental Medicine and Habilitation Center, Japan.
Tachi
N
N
Oya
K
K
D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002524:Cerebellar Ataxia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D010375:Pedigree; D014057:Tomography, X-Ray Computed