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.
- Disinhibition-dementia-parkinsonism- amyotrophy complex (DDPAC)
- Linkage analysis 17q21- 22
- Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration (PPND)
ASJC Scopus subject areas
- Geriatrics and Gerontology
- Clinical Neurology