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Curr Neurol Neurosci Rep. 2017 Sep;17(9):66. doi: 10.1007/s11910-017-0780-8.

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Author information

1
Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden. Andreas.Puschmann@med.lu.se.
2
Department for Neurology, Skåne University Hospital, Getingevägen 4, 224 67, Lund, Sweden. Andreas.Puschmann@med.lu.se.

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. 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.

KEYWORDS:

Dominant; Genetic; Monogenic; Parkinsonism; Parkinson’s disease; Recessive

PMID:
28733970
PMCID:
PMC5522513
DOI:
10.1007/s11910-017-0780-8
[Indexed for MEDLINE]
Free PMC Article

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