Abstract
Recently, it has been reported that carriers of a hemizygous chromosome 22q11.2 deletion may be at increased risk of early-onset Parkinson's disease. Herein, we propose a hypothesis that it is not the microdeletion per se that is responsible for the phenotype but rather a complete loss of function of a gene within the region due to the combination of the deletion and another mutation on the alternate allele. Thus we propose the deletion may be highlighting a novel locus for a recessive form of early-onset Parkinson's disease.
Original language | English (US) |
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Pages (from-to) | 945-946 |
Number of pages | 2 |
Journal | Parkinsonism and Related Disorders |
Volume | 20 |
Issue number | 9 |
DOIs | |
State | Published - Sep 2014 |
Keywords
- 22q11.2 deletion
- Early-onset
- Genetic
- PD
- Parkinson's disease
- Recessive
ASJC Scopus subject areas
- Neurology
- Geriatrics and Gerontology
- Clinical Neurology