New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Research output: Contribution to journalReview article

Abstract

Purpose of Review: This article reviews was to review genes where putative or confirmed pathogenic mutations causing Parkinson’s disease or Parkinsonism have been identified since 2012, and summarizes the clinical and pathological picture of the associated disease subtypes. Recent Findings: Newly reported genes for dominant Parkinson’s disease are DNAJC13, CHCHD2, and TMEM230. However, the evidence for a disease-causing role is not conclusive, and further genetic and functional studies are warranted. RIC3 mutations have been reported from one family but not yet encountered in other patients. New genes for autosomal recessive disease include SYNJ1, DNAJC6, VPS13C, and PTRHD1. Deletions of a region on chromosome 22 (22q11.2del) are also associated with early-onset PD, but the mode of inheritance and the underlying causative gene remain unclear. PODXL mutations were reported in autosomal recessive PD, but their roles remain to be confirmed. Mutations in RAB39B cause an X-linked Parkinsonian disorder. Summary: Mutations in the new dominant PD genes have generally been found in medium- to late-onset Parkinson’s disease. Many mutations in the new recessive and X-chromosomal genes cause severe atypical juvenile Parkinsonism, but less devastating mutations in these genes may cause PD.

Details

Authors
Organisations
External organisations
  • Skåne University Hospital
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Neurology
  • Medical Genetics

Keywords

  • Dominant, Genetic, Monogenic, Parkinsonism, Parkinson’s disease, Recessive
Original languageEnglish
Article number66
Pages (from-to)1-11
JournalCurrent Neurology and Neuroscience Reports
Volume17
Publication statusPublished - 2017 Sep 1
Publication categoryResearch
Peer-reviewedYes