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Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation
Author(s) -
Giordana Maria Teresa,
D'Agostino Carla,
Albani Giovanni,
Mauro Alessandro,
Di Fonzo Alessio,
Antonini Angelo,
Bonifati Vincenzo
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21281
Subject(s) - lrrk2 , neuropathology , lewy body , neurodegeneration , pathology , parkinson's disease , mutation , disease , medicine , degenerative disease , biology , neuroscience , genetics , gene
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