A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations

Parkinsonism Relat Disord. 2009 May;15(4):273-6. doi: 10.1016/j.parkreldis.2008.06.008. Epub 2008 Aug 21.

Abstract

We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • DNA Mutational Analysis / methods
  • Family Health*
  • Female
  • France
  • Genetic Predisposition to Disease*
  • Glycine / genetics
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Neuropsychological Tests
  • Olfaction Disorders* / etiology
  • Olfaction Disorders* / genetics
  • Olfaction Disorders* / psychology
  • Parkinson Disease* / complications
  • Parkinson Disease* / genetics
  • Parkinson Disease* / psychology
  • Protein Serine-Threonine Kinases / genetics*
  • Serine / genetics

Substances

  • Serine
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases
  • Glycine