The G2019S LRRK2 mutation has been identified in a significant proportion of familial and sporadic Parkinson’s disease (PD) patients. Until now information about the neuropathological changes associated with the G2019S LRRK2 mutation has been sparse. We report a 77 years-old patient who presented fourteen years-history of PD, but unexpectedly, histopathological examination disclosed mild neuronal loss in the subtantia 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 nonspecific nigral degeneration without Lewy bodies.
- G2019S LRRK2 mutation
- Parkinsons disease
- lewy bodies
- non-specific nigrostrital degeneration