Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
  1. Home
  2. Search

Refine search

Refine search

Access:
Content type:
Publication date:
Apply   From and To filters
Subject: Show more
Journals Show more
Publishers: Show more
Societies Show more
Series: Show more
Collections: Show more

Actions for selected content:

Select all | Deselect all
  • View selected items
  • Export citations
  • Download PDF (zip)
  • Save to Kindle
  • Save to Dropbox
  • Save to Google Drive

Save Search

You can save your searches here and later view and run them again in "My saved searches".

Please provide a title, maximum of 40 characters.
Cancel
×

1 results

  • Chapter 12 - Charcot–Marie–Tooth diseases

  • Nicholas Wood
  • Book:
    Neurogenetics
    Published online:
    05 May 2012
    Print publication:
    12 April 2012, pp 166-187

  • Summary

    Parkinson's disease (PD) appears as a sporadic disorder in most patients. This chapter discusses the genetics of the Mendelian forms of PD identified to date, focusing on five genes: a-synuclein, parkin, DJ-1, PINK1, and LRRK2 that have been associated conclusively with this disease. Other chromosomal loci including PARK3, PARK10, and PARK11 have been identified by genome-wide approaches, and these regions might harbor further genes for PD. For a few other genes including UCH-L1, NR4A2, SNCAIP, HtrA2/Omi, and GBA there is weaker evidence of association with PD. These loci and genes are also briefly discussed. Emerging data delineate mutations in the LRRK2 gene as the cause of up to 10% of the familial late onset autosomal dominant PD forms, and also of a few sporadic cases. The importance of genetic testing for PD patients is expected to increase in the near future, also raising important ethical issues.