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 withpallido-ponto-nigral degeneration (PPND) is a neurodegenerative disorderwhich begins later in life (> 30 years of age) and is characterized byrapidly progressive parkinsonism, dystonia, dementia, perservativevocalizations and pyramidal tract dysfunction. The disease is observed in alarge American family that includes almost 300 members in nine generationswith 34 affected individuals. In this kindred evidence for linkage tochromosome 17q21 was obtained with a maximum lod score of 9.08 for theD17S958 locus. Multilocus analysis positions the disease gene in anapproximately 10 cM region between D17S250 and D17S943. Notably, thedisease locus for a clinically distinct familial neurodegenerative diseasenamed 'disinhibition-dementia-parkinsonism- amyotrophy complex' (DDPAC) wasrecently mapped to the same region of chromosome 17, suggesting that PPNDand DDPAC may possibly originate from mutations in the same gene.