Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21

Hum Mol Genet. 1996 Jan;5(1):151-4. doi: 10.1093/hmg/5.1.151.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain Diseases / genetics*
  • Brain Diseases / pathology
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 17*
  • Dementia / genetics*
  • Female
  • Gliosis / genetics
  • Gliosis / pathology
  • Globus Pallidus / pathology
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Nerve Degeneration
  • Parkinson Disease / genetics*
  • Pons / pathology
  • Substantia Nigra / pathology