MovDisordV3, Main, Exploration, bibRecord, 002D21

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

Identifieur interne : 002D21 ( Main/Exploration ); précédent : 002D20; suivant : 002D22

Neuropathology 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.

RBID : ISTEX:47EF05B0CBA17E6B2C977E9638ED1D4FA35F3830

Descripteurs français

Pascal (Inist)
- Mutation, Parkinson maladie, Système nerveux pathologie.

English descriptors

KwdEn :
- Aged, Brain (metabolism), Brain (physiopathology), Fatal Outcome, Female, Humans, Ile1371Val mutation, LRRK2, Lewy Bodies (metabolism), Lewy Bodies (pathology), Mutation, Nervous system diseases, Parkinson Disease (genetics), Parkinson Disease (metabolism), Parkinson Disease (pathology), Parkinson disease, Parkinson's disease, Point Mutation (genetics), Protein-Serine-Threonine Kinases (genetics), Substantia Nigra (metabolism), Substantia Nigra (pathology), alpha-Synuclein (metabolism), neuropathology, tau Proteins (metabolism).
MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- genetics : Parkinson Disease, Point Mutation.
- metabolism : Brain, Lewy Bodies, Parkinson Disease, Substantia Nigra, alpha-Synuclein, tau Proteins.
- pathology : Lewy Bodies, Parkinson Disease, Substantia Nigra.
- physiopathology : Brain.
- Aged, Fatal Outcome, Female, Humans.

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

Url:

https://api.istex.fr/document/47EF05B0CBA17E6B2C977E9638ED1D4FA35F3830/fulltext/pdf

DOI: 10.1002/mds.21281

Affiliations:

Italie, Pays-Bas
Hollande-Méridionale, Lombardie, Piémont
Milan, Rotterdam, Turin

Le document en format XML

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<front><div type="abstract" xml:lang="en">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</div>
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Movement Disorders (revue)

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

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

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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