G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies

AUTOR(ES)

Gaig, Carles

FONTE

BMJ Group

RESUMO

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.

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