Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation
Identifieur interne : 001005 ( Main/Exploration ); précédent : 001004; suivant : 001006Neuropathology of Parkinson's disease associated with the LRRK2 Ile1371Val mutation
Auteurs : Maria Teresa Giordana [Italie] ; Carla D'Agostino [Italie] ; Giovanni Albani [Italie] ; Alessandro Mauro [Italie] ; Alessio Di Fonzo [Pays-Bas, Italie] ; Angelo Antonini [Italie] ; Vincenzo Bonifati [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
English descriptors
Abstract
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
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DOI: 10.1002/mds.21281
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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</div></front></TEI><affiliations><list><country><li>Italie</li><li>Pays-Bas</li></country><region><li>Hollande-Méridionale</li><li>Lombardie</li><li>Piémont</li></region><settlement><li>Milan</li><li>Rotterdam</li><li>Turin</li></settlement></list><tree><country name="Italie"><region name="Piémont"><name sortKey="Giordana, Maria Teresa" sort="Giordana, Maria Teresa" uniqKey="Giordana M" first="Maria Teresa" last="Giordana">Maria Teresa Giordana</name></region><name sortKey="Albani, Giovanni" sort="Albani, Giovanni" uniqKey="Albani G" first="Giovanni" last="Albani">Giovanni Albani</name><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name><name sortKey="D Agostino, Carla" sort="D Agostino, Carla" uniqKey="D Agostino C" first="Carla" last="D'Agostino">Carla D'Agostino</name><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name><name sortKey="Mauro, Alessandro" sort="Mauro, Alessandro" uniqKey="Mauro A" first="Alessandro" last="Mauro">Alessandro Mauro</name><name sortKey="Mauro, Alessandro" sort="Mauro, Alessandro" uniqKey="Mauro A" first="Alessandro" last="Mauro">Alessandro Mauro</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name></region><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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