Dominant olivopontocerebellar atrophy with dementia and extrapyramidal signs: report of a family through three generations.
The olivopontocerebellar atrophies (OPCA) can be divided into five disease entities. One of these, dominant OPCA with dementia and extrapyramidal signs, is better defined by the family we studied. Five persons in three generations were affected by progressive ataxia, tremor, rigidity and mental deterioration, beginning in their twenties and thirties. Neurologic examination showed mental deterioration, high-pitched dysarthric voice, gaze paresis, rigidity and coarse tremor. This disease differs from other dominant and recessive OPCAs clinically because of the prominent mental deterioration and extrapyramidal signs, and pathologically because of cortical, lentiform and substantia nigra neuronal loss.
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001479:Basal Ganglia / Q000473:pathology; D001480:Basal Ganglia Diseases / Q000235:genetics* / Q000473:pathology; D002524:Cerebellar Ataxia / Q000145:classification / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008526:Medulla Oblongata / Q000473:pathology; D008636:Mesencephalon / Q000473:pathology; D008875:Middle Aged; D019965:Neurocognitive Disorders / Q000235:genetics* / Q000473:pathology; D009847:Olivary Nucleus / Q000473:pathology; D009929:Organ Size; D010375:Pedigree; D011149:Pons / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013788:Thalamus / Q000473:pathology