Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia.
One-hundred cases of olivopontocerebellar atrophy, type 1, were found and studied in the Iakut population of Eastern Siberia. The disease followed a slowly progressive course of cerebellar insufficiency caused by degeneration in the cerebellar cortex, nuclei pontis, and inferior oliva. The disorder shows an autosomal dominant pattern of inheritance with a lower penetrance in females. The disease spread from a small region in the Aldan valley 200 to 300 years ago.
Goldfarb
L G
LG
National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892.
Chumakov
M P
MP
Petrov
P A
PA
Fedorova
N I
NI
Gajdusek
D C
DC
D000293:Adolescent; D000328:Adult; D000368:Aged; D005006:Ethnicity; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009420:Nervous System / Q000473:pathology; D009849:Olivopontocerebellar Atrophies / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012800:Siberia; D013132:Spinocerebellar Degenerations / Q000235:genetics*