Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration (PPND) and disinhibition-dementia- parkinsonism-amyotrophy complex (DDPAC) are clinically distinct conditions that are both linked to 17q21-22

Zbigniew K. Wszolek, Timothy Lynch, Kirk C. Wilhelmsen

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Genetic analysis provides specific etiologic information about disease that cannot be deduced by clinical and pathologic investigations alone. Two large families have been characterized with multi-system degeneration: rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration (PPND) and disinhibition-dementia- parkinsonism-amyotrophy complex (DDPAC). Linkage analysis identified a locus, wld, on 17q21-22 that is responsible for DDPAC. Analysis of a PPND family shows that PPND is also due to a gene on 17q21-22. Comparison of genealogic, clinical, diagnostic, and pathologic data shows that DDPAC and PPND are distinct disorders suggesting two different mutations in wld. Literature review identifies many kindreds with multi-system degeneration that may be allelic.

Original languageEnglish (US)
Pages (from-to)67-76
Number of pages10
JournalParkinsonism and Related Disorders
Volume3
Issue number2
DOIs
StatePublished - Apr 1 1997

Keywords

  • Amyotrophy
  • Dementia
  • Disinhibition-dementia-parkinsonism- amyotrophy complex (DDPAC)
  • Linkage analysis 17q21- 22
  • Parkinsonism
  • Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration (PPND)

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

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