title: G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies.
abstract: 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.
authors.affiliation: Hospital Clínic i Universitari de Barcelona, Movement disorders Unit. Neurology Service, Villarroel 170, Barcelona, 08036, Spain.
authors.forename: Carles
authors.initials: C
authors.lastname: Gaig
authors.forename: María José
authors.initials: MJ
authors.lastname: Martí
authors.forename: Mario
authors.initials: M
authors.lastname: Ezquerra
authors.forename: Adriana
authors.initials: A
authors.lastname: Cardozo
authors.forename: Maria Jesus
authors.initials: MJ
authors.lastname: Rey
authors.forename: Eduardo
authors.initials: E
authors.lastname: Tolosa