Autosomal recessive non-progressive ataxia with an early childhood debut.
The case histories and clinical studies are given of 7 consanguineous patients, 4 adults and 3 children, with a rather uniform clinical picture of nonprogressive cerebellar ataxia manifesting in early childhood. Most patients have in addition slight spastic signs, short stature and normal intelligence. There are no signs of other organ pathology, biochemical aberrations, endocrine- or immunopathology. CT-scan and PEG show cerebellar atrophy. The pedigree analysis indicates an autosomal recessive mode of inheritance. The condition falls between the ataxic syndromes in the cerebral palsy range and the heredo-ataxias. Until now, no similar disorders seems to have been described.
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D002524:Cerebellar Ataxia / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011011:Pneumoencephalography; D014057:Tomography, X-Ray Computed