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Disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) is a non-Alzheimer's frontotemporal dementia
1Department of Neurology, University of California, San Francisco, USA.
Abstract:
DDPAC was defined based on the cardinal symptoms of the syndrome found in family Mo. Investigation of DDPAC cases in family Mo shows non-specific pathological changes in a distribution that is consistent with the cardinal features of the disease. Genetic analysis identified a locus on chromosome 17q21-22 that produces this syndrome which is inherited as an autosomal dominant trait. DDPAC overlaps clinically and pathologically with a variety of named neurodegenerative syndromes and falls within the spectrum called frontotemporal dementia. The localization of the disease locus for DDPAC allows the testing of whether other familial neurodegenerative conditions also map to the same chromosomal regions. It seems possible that ultimately these conditions that have thus far been difficult to categorize will be subject to a nosology based on genetic etiology.
Insights
Researchers identified a genetic locus on chromosome 17q21-22 for dementia with parkinsonism and autonomic dysfunction (DDPAC), an autosomal dominant neurodegenerative syndrome. This finding aids in classifying DDPAC and related disorders by genetic etiology.
Area of Science:
- Neurogenetics
- Neurology
- Pathology
Background:
- Dementia with parkinsonism and autonomic dysfunction (DDPAC) presents with cardinal symptoms.
- Previous investigations showed non-specific pathological changes consistent with disease features in affected families.
Purpose of the Study:
- To genetically characterize DDPAC and determine its relationship to other neurodegenerative syndromes.
- To identify the chromosomal locus responsible for DDPAC.
Main Methods:
- Clinical investigation of DDPAC cases within a family.
- Pathological examination of affected individuals.
- Genetic linkage analysis to identify the disease locus.
Main Results:
- A disease locus for DDPAC was identified on chromosome 17q21-22.
- The syndrome is inherited as an autosomal dominant trait.
- DDPAC exhibits clinical and pathological overlap with frontotemporal dementia spectrum disorders.
Conclusions:
- The identified genetic locus provides a basis for understanding DDPAC's etiology.
- This research facilitates the investigation of other familial neurodegenerative conditions mapping to the same chromosomal region.
- A genetic-based nosology for previously difficult-to-categorize neurodegenerative disorders is proposed.