Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21.
Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration (PPND) is a neurodegenerative disorder which begins later in life (> 30 years of age) and is characterized by rapidly progressive parkinsonism, dystonia, dementia, perservative vocalizations and pyramidal tract dysfunction. The disease is observed in a large American family that includes almost 300 members in nine generations with 34 affected individuals. In this kindred evidence for linkage to chromosome 17q21 was obtained with a maximum lod score of 9.08 for the D17S958 locus. Multilocus analysis positions the disease gene in an approximately 10 cM region between D17S250 and D17S943. Notably, the disease locus for a clinically distinct familial neurodegenerative disease named 'disinhibition-dementia-parkinsonism-amyotrophy complex' (DDPAC) was recently mapped to the same region of chromosome 17, suggesting that PPND and DDPAC may possibly originate from mutations in the same gene.
Wijker
M
M
Department of Human Genetics, Free University Amsterdam, Netherlands.
Wszolek
Z K
ZK
Wolters
E C
EC
Rooimans
M A
MA
Pals
G
G
Pfeiffer
R F
RF
Lynch
T
T
Rodnitzky
R L
RL
Wilhelmsen
K C
KC
Arwert
F
F
D000328:Adult; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D003704:Dementia / Q000235:genetics*; D005260:Female; D005911:Gliosis / Q000235:genetics / Q000473:pathology; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009410:Nerve Degeneration; D010300:Parkinson Disease / Q000235:genetics*; D011149:Pons / Q000473:pathology; D013378:Substantia Nigra / Q000473:pathology