G2019S LRRK2 mutation causing Parkinson’s disease without Lewy bodies
- Carles Gaig1,
- María José Martí1,
- Mario Ezquerra1,
- Adriana Cardozo2,
- Maria Jesus Rey2,
- Eduardo Tolosa1
- 1Hospital Clínic i Universitari de Barcelona, Movement disorders Unit. Neurology Service, Villarroel 170, Barcelona, 08036, Spain
- 2Universitat de Barcelona, Branc de Teixits Neurologics, Villarroel 170, Barcelona, 08036, Spain
- 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
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Competing interests: none.
