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BMJ Case Reports 2009; doi:10.1136/bcr.08.2008.0632
  • Findings that shed new light on the possible pathogenesis of a disease or an adverse effect

G2019S LRRK2 mutation causing Parkinson’s disease without Lewy bodies

  1. Carles Gaig1,
  2. María José Martí1,
  3. Mario Ezquerra1,
  4. Adriana Cardozo2,
  5. Maria Jesus Rey2,
  6. Eduardo Tolosa1
  1. 1
    Hospital Clínic i Universitari de Barcelona, Movement disorders Unit. Neurology Service, Villarroel 170, Barcelona, 08036, Spain
  2. 2
    Universitat de Barcelona, Branc de Teixits Neurologics, Villarroel 170, Barcelona, 08036, Spain
  1. mjmarti{at}clinic.ub.es
  • Published 23 January 2009

Summary

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

Footnotes

  • Competing interests: none.

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