Chromosome 22q11.2 deletion may contain a locus for recessive early-onset Parkinson's disease

Kotaro Ogaki, Owen A Ross

Research output: Contribution to journalArticle

6 Scopus citations

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 languageEnglish (US)
Pages (from-to)945-946
Number of pages2
JournalParkinsonism and Related Disorders
Volume20
Issue number9
DOIs
StatePublished - 2014

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Keywords

  • 22q11.2 deletion
  • Early-onset
  • Genetic
  • Parkinson's disease
  • PD
  • Recessive

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

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