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...

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Published in:Human molecular genetics 1996-01, Vol.5 (1), p.151-154
Main Authors: Wijker, Mario, Wszolek, Zbigniew K., Wolters, Eric C. H., Rooimans, Martin A., Pals, Gerard, Pfeiffer, Ronald F., Lynch, Timothy, Rodnitzky, R. L., Wilhelmsen, Kirk C., Arwert, Fré
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Brain Diseases - genetics
Brain Diseases - pathology
Chromosome Mapping
Chromosomes, Human, Pair 17
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Dementia - genetics
Female
Gliosis - genetics
Gliosis - pathology
Globus Pallidus - pathology
Humans
Lod Score
Male
Medical sciences
Middle Aged
Nerve Degeneration
Neurology
Parkinson Disease - genetics
Pons - pathology
Substantia Nigra - pathology
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Summary: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 ∼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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/5.1.151