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Cold Spring Harbor Perspectives in Medicine· 2012Q1· Preprint

Genetics of Parkinson's Disease

Christine Klein, Ana Westenberger

Short summary

Fifteen years of research have identified several single-gene causes and numerous genetic risk factors for Parkinson's disease (PD). Monogenic forms, though rare, account for a significant portion of familial and sporadic cases.

AI-generated from the title and abstract; the full text is not read.

Key points

  • Several monogenic forms of Parkinson's disease (PD) have been identified.
  • Numerous genetic risk factors increasing PD susceptibility are known.
  • Monogenic PD accounts for ~30% of familial and 3%-5% of sporadic cases.
  • The review covers inheritance principles, gene identification, and genetic testing implications.

AI-generated from the title and abstract; the full text is not read.

Abstract

Fifteen years of genetic research in Parkinson's disease (PD) have led to the identification of several monogenic forms of the disorder and of numerous genetic risk factors increasing the risk to develop PD. Monogenic forms, caused by a single mutation in a dominantly or recessively inherited gene, are well-established, albeit relatively rare types of PD. They collectively account for about 30% of the familial and 3%-5% of the sporadic cases. In this article, we will summarize the current knowledge and understanding of the molecular genetics of PD. In brief, we will review familial forms of PD, basic genetic principles of inheritance (and their exceptions in PD), followed by current methods for the identification of PD genes and risk factors, and implications for genetic testing.

The authors' abstract, as published at the source. Cold Spring Harbor Perspectives in Medicine, 2012 · DOI ↗

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Field: Cellular and Molecular Neuroscience

Cellular and Molecular NeuroscienceNeuroscience