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New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

Puschmann, Andreas LU orcid (2017) In Current Neurology and Neuroscience Reports 17. p.1-11
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... (More)

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.

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Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Dominant, Genetic, Monogenic, Parkinsonism, Parkinson’s disease, Recessive
in
Current Neurology and Neuroscience Reports
volume
17
article number
66
pages
1 - 11
publisher
Current Medicine Group
external identifiers
  • scopus:85025437274
  • pmid:28733970
  • wos:000411155700002
ISSN
1528-4042
DOI
10.1007/s11910-017-0780-8
language
English
LU publication?
yes
id
75965992-b768-4cad-94a1-d31a27cd4de6
date added to LUP
2017-08-22 16:26:44
date last changed
2024-07-22 02:31:34
@article{75965992-b768-4cad-94a1-d31a27cd4de6,
  abstract     = {{<p>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.</p>}},
  author       = {{Puschmann, Andreas}},
  issn         = {{1528-4042}},
  keywords     = {{Dominant; Genetic; Monogenic; Parkinsonism; Parkinson’s disease; Recessive}},
  language     = {{eng}},
  month        = {{09}},
  pages        = {{1--11}},
  publisher    = {{Current Medicine Group}},
  series       = {{Current Neurology and Neuroscience Reports}},
  title        = {{New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism}},
  url          = {{http://dx.doi.org/10.1007/s11910-017-0780-8}},
  doi          = {{10.1007/s11910-017-0780-8}},
  volume       = {{17}},
  year         = {{2017}},
}