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Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation



Leucine-Rich Repeat Kinase 2 (LRRK2) gene mutations are the most common known cause of Parkinson's disease (PD), but neuropathological studies are available on very few patients with LRRK2 mutation. The reported findings range from Lewy body–positive pathology to different pathologies, including nigral degeneration without distinctive features, neuronal loss with only ubiquitin-positive inclusions, and tau-positive–only pathology. Here we report the first neuropathological study in an Italian PD case carrying a different LRRK2 mutation, Ile1371Val, and showing typical ubiquitin- and α-synuclein–positive Lewy body pathology. These findings support the concept that the neurodegeneration associated with LRRK2 mutations might be clinically and pathologically indistinguishable from typical PD. © 2006 Movement Disorder Society