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LRRK2 and Parkinson disease

Justus C Dächsel1, Matthew J Farrer

  • 1Laboratories of Neurogenetics, Department of Neuroscience, Morris K. Udall Parkinson's Disease Research Center of Excellence, Mayo Clinic, Jacksonville, Florida 32224, USA.

Archives of Neurology
|May 12, 2010
PubMed
Abstract

Insights

Genetic insights into leucine-rich repeat kinase 2 (LRRK2) offer new therapeutic avenues for Parkinson disease (PD). Studying LRRK2 carriers helps define PD

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Leucine-rich repeat kinase 2 (LRRK2) is implicated in parkinsonism.
  • Genetic mutations in LRRK2 are linked to Parkinson disease (PD).

Purpose of the Study:

  • To review the molecular genetics and functional biology of LRRK2 in parkinsonism.
  • To summarize opportunities and challenges for developing PD interventions based on LRRK2 genetics.

Main Methods:

  • Focused on LRRK2 biology literature from 2004 to March 2009.
  • Selected original contributions, seminal observations, and thoughtful reviews.
  • Abstracted data primarily from PubMed.

Main Results:

  • LRRK2 mutations are diagnostically useful in early or atypical PD presentations.
  • Identified molecular pathways suggest therapeutic interventions for LRRK2 and idiopathic PD.
  • Opportunities exist to develop relevant biomarkers and experimental models.

Conclusions:

  • LRRK2 carriers (affected and asymptomatic) enable defining PD's natural history.
  • This includes frequency, penetrance, and progression of motor and non-motor symptoms.
  • Associated biomarkers can also be studied in LRRK2 carriers.

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