Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21 |
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Authors: | Wijker M; Wszolek ZK; Wolters EC; Rooimans MA; Pals G; Pfeiffer RF; Lynch T; Rodnitzky RL; Wilhelmsen KC; Arwert F |
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Institution: | Department of Human Genetics, Free University Amsterdam, Netherlands. |
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Abstract: | 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.
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