MovDisordV3, Main, Exploration, bibRecord, 002506

Neuropathology of Parkinson's Disease with the R 1441 G Mutation in LRRK2

Identifieur interne : 002506 ( Main/Exploration ); précédent : 002505; suivant : 002507

Neuropathology of Parkinson's Disease with the R 1441 G Mutation in LRRK2

Auteurs : José-Félix Marti-Masso [Espagne] ; Javier Ruiz-Martinez [Espagne] ; Maria J. Bolano [Espagne] ; Irune Ruiz [Espagne] ; Ana Gorostidi [Espagne] ; Fermin Moreno [Espagne] ; Isidre Ferrer [Espagne] ; Adolfo Lopez De Munain [Espagne]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0472213

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Mutation.

English descriptors

KwdEn :
- Mutation, Nervous system diseases, Parkinson disease.

Abstract

We report the neuropathological findings in a patient with Parkinson's disease (PD) associated with Basque R1441G-LRRK2/dardarin mutation. The patient was a man with disease onset at 68 years of age, with unilateral rest tremor; the Parkinsonism was well controlled with medication for 15 years. He died at the age of 86, after 18 years of evolution. The neuropathological examination disclosed mild neuronal loss in the substantia nigra pars compacta without α-synuclein, tau, LRRK2, or ubiquitin cytoplasmic inclusions. Lewy bodies and Lewy neurites were absent. This is the first neuropathological study of PD associated with brain with the R1441G mutation in LRRK2.

Affiliations:

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

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Neuropathology of Parkinson's Disease with the R 1441 G Mutation in LRRK2</title>
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<sZ>7 aut.</sZ>
</inist:fA14>
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<author><name sortKey="Lopez De Munain, Adolfo" sort="Lopez De Munain, Adolfo" uniqKey="Lopez De Munain A" first="Adolfo" last="Lopez De Munain">Adolfo Lopez De Munain</name>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</term>
<term>Nervous system diseases</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
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<front><div type="abstract" xml:lang="en">We report the neuropathological findings in a patient with Parkinson's disease (PD) associated with Basque R1441G-LRRK2/dardarin mutation. The patient was a man with disease onset at 68 years of age, with unilateral rest tremor; the Parkinsonism was well controlled with medication for 15 years. He died at the age of 86, after 18 years of evolution. The neuropathological examination disclosed mild neuronal loss in the substantia nigra pars compacta without α-synuclein, tau, LRRK2, or ubiquitin cytoplasmic inclusions. Lewy bodies and Lewy neurites were absent. This is the first neuropathological study of PD associated with brain with the R1441G mutation in LRRK2.</div>
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<affiliations><list><country><li>Espagne</li>
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<name sortKey="Bolano, Maria J" sort="Bolano, Maria J" uniqKey="Bolano M" first="Maria J." last="Bolano">Maria J. Bolano</name>
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<name sortKey="Lopez De Munain, Adolfo" sort="Lopez De Munain, Adolfo" uniqKey="Lopez De Munain A" first="Adolfo" last="Lopez De Munain">Adolfo Lopez De Munain</name>
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<name sortKey="Marti Masso, Jose Felix" sort="Marti Masso, Jose Felix" uniqKey="Marti Masso J" first="José-Félix" last="Marti-Masso">José-Félix Marti-Masso</name>
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<name sortKey="Ruiz Martinez, Javier" sort="Ruiz Martinez, Javier" uniqKey="Ruiz Martinez J" first="Javier" last="Ruiz-Martinez">Javier Ruiz-Martinez</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Neuropathology of Parkinson's Disease with the R 1441 G Mutation in LRRK2

Neuropathology of Parkinson's Disease with the R 1441 G Mutation in LRRK2

Source :

Descripteurs français

English descriptors

Abstract

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

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