G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies. Issue 6 (8th January 2007)

• Record Type: Journal Article
• Authors: Gaig, Carles; Martí, María José; Ezquerra, Mario; Rey, Maria Jesús; Cardozo, Adriana; Tolosa, Eduardo
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 78:Issue 6(2007)
• Page Start: 626
• Page End: 628
• Publication Date: 2007-01-08
• Subjects: H&Y, Hoehn and Yahr -- LB, Lewy body -- LRRK2, leucine-rich repeat kinase 2 gene -- PD, Parkinson's disease -- SN, substantia nigra; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2006.107904
• Languages: English
• ISSNs: 0022-3050

Abstract

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 bodies.