G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies.
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 alpha-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.
Gaig
Carles
C
Movement Disorders Unit, Department of Neurology, Institut Clínic de Neurociències, Hospital Clínic i Universitari de Barcelona, Barcelona, Spain.
Martí
María José
MJ
Ezquerra
Mario
M
Rey
Maria Jesús
MJ
Cardozo
Adriana
A
Tolosa
Eduardo
E
D000368:Aged; D005260:Female; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D016631:Lewy Bodies; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases