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G2019S LRRK2 mutation causing Parkinson’s disease without Lewy bodies
  1. Carles Gaig1,
  2. María José Martí1,
  3. Mario Ezquerra1,
  4. Maria Jesús Rey2,
  5. Adriana Cardozo2,
  6. Eduardo Tolosa1
  1. 1Movement Disorders Unit, Department of Neurology, Institut Clínic de Neurociències (ICN), Hospital Clínic i Universitari de Barcelona, Barcelona, Spain
  2. 2Brain Bank of the University of Barcelona, Barcelona, Spain
  1. Correspondence to:
 Dr María José Martí
 Neurology Service, Hospital Clínic i Universitari de Barcelona, Villarroel 170, 08036, Barcelona, Spain; mjmarti{at}


The G2019S leucine-rich repeat kinase 2 gene (LRRK2) mutation has been identified in a significant proportion of familial and sporadic cases of Parkinson’s disease (PD). Until now, information on the neuropathological changes associated with the G2019S LRRK2 mutation has been sparse. We report a 77-year-old patient who presented with a 14 year history of PD but, unexpectedly, histopathological examination disclosed mild neuronal loss in the substantia nigra without α-synuclein, tau or ubiquitin cytoplasmic inclusions. A G2019S LRRK2 mutation was eventually detected. The present case confirms that clinical PD caused by G2019S mutations can be associated with non-specific nigral degeneration without Lewy bodies.

  • H&Y, Hoehn and Yahr
  • LB, Lewy body
  • LRRK2, leucine-rich repeat kinase 2 gene
  • PD, Parkinson’s disease
  • SN, substantia nigra

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  • Competing interests: None.

  • Published Online First 8 January 2007