Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2
Identifieur interne : 002187 ( Main/Exploration ); précédent : 002186; suivant : 002188Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2
Auteurs : José-Félix Martí-Mass [Espagne] ; Javier Ruiz-Martínez [Espagne] ; Maria J. Bola O [Espagne] ; Irune Ruiz [Espagne] ; Ana Gorostidi [Espagne] ; Fermin Moreno [Espagne] ; Isidre Ferrer [Espagne] ; Adolfo L Pez De Munain [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-10-15.
English descriptors
- KwdEn :
- Aged, Arginine (genetics), DNA Mutational Analysis, Glutamine (genetics), Humans, LRRK2, Male, Mutation (genetics), Nerve Tissue Proteins (metabolism), Parkinson Disease (genetics), Parkinson Disease (pathology), Parkinson's disease, Protein-Serine-Threonine Kinases (genetics), Protein-Serine-Threonine Kinases (metabolism), Substantia Nigra (metabolism), Substantia Nigra (pathology), Ubiquitin (metabolism), beta-Crystallin A Chain (metabolism), dardarin, neuropathology, tau Proteins (metabolism).
- MESH :
- chemical , genetics : Arginine, Glutamine, Protein-Serine-Threonine Kinases.
- genetics : Mutation, Parkinson Disease.
- chemical , metabolism : Nerve Tissue Proteins, Protein-Serine-Threonine Kinases, Substantia Nigra, Ubiquitin, beta-Crystallin A Chain, tau Proteins.
- pathology : Parkinson Disease, Substantia Nigra.
- Aged, DNA Mutational Analysis, Humans, Male.
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. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22677
Affiliations:
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Bola O</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Hospital Donostia, San Sebastián, Gipuzkoa</wicri:regionArea><wicri:noRegion>Gipuzkoa</wicri:noRegion></affiliation></author><author><name sortKey="Ruiz, Irune" sort="Ruiz, Irune" uniqKey="Ruiz I" first="Irune" last="Ruiz">Irune Ruiz</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Pathologic Anatomy, Hospital Donostia, San Sebastián, Gipuzkoa</wicri:regionArea><wicri:noRegion>Gipuzkoa</wicri:noRegion></affiliation></author><author><name sortKey="Gorostidi, Ana" sort="Gorostidi, Ana" uniqKey="Gorostidi A" first="Ana" last="Gorostidi">Ana Gorostidi</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Neurogenetic Laboratory, Hospital Donostia, San Sebastián, Gipuzkoa</wicri:regionArea><wicri:noRegion>Gipuzkoa</wicri:noRegion></affiliation></author><author><name sortKey="Moreno, Fermin" sort="Moreno, Fermin" uniqKey="Moreno F" first="Fermin" last="Moreno">Fermin Moreno</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Hospital Donostia, San Sebastián, Gipuzkoa</wicri:regionArea><wicri:noRegion>Gipuzkoa</wicri:noRegion></affiliation></author><author><name sortKey="Ferrer, Isidre" sort="Ferrer, Isidre" uniqKey="Ferrer I" first="Isidre" last="Ferrer">Isidre Ferrer</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>CIBERNED, Institute Carlos III, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation><wicri:noCountry code="subField">Hospitalet de Llobregat</wicri:noCountry></affiliation></author><author><name sortKey="De Munain, Adolfo L Pez" sort="De Munain, Adolfo L Pez" uniqKey="De Munain A" first="Adolfo L Pez" last="De Munain">Adolfo L Pez De Munain</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Hospital Donostia, San Sebastián, Gipuzkoa</wicri:regionArea><wicri:noRegion>Gipuzkoa</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>CIBERNED, Institute Carlos III, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-10-15">2009-10-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="1998">1998</biblScope><biblScope unit="page" to="2001">2001</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">EA3D0874496C871F8F529737E77472FAA321BA87</idno><idno type="DOI">10.1002/mds.22677</idno><idno type="ArticleID">MDS22677</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Arginine (genetics)</term><term>DNA Mutational Analysis</term><term>Glutamine (genetics)</term><term>Humans</term><term>LRRK2</term><term>Male</term><term>Mutation (genetics)</term><term>Nerve Tissue Proteins (metabolism)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Parkinson's disease</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Protein-Serine-Threonine Kinases (metabolism)</term><term>Substantia Nigra (metabolism)</term><term>Substantia Nigra (pathology)</term><term>Ubiquitin (metabolism)</term><term>beta-Crystallin A Chain (metabolism)</term><term>dardarin</term><term>neuropathology</term><term>tau Proteins (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>Glutamine</term><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Protein-Serine-Threonine Kinases</term><term>Substantia Nigra</term><term>Ubiquitin</term><term>beta-Crystallin A Chain</term><term>tau Proteins</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Parkinson Disease</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Male</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Espagne</li></country><region><li>Communauté de Madrid</li></region><settlement><li>Madrid</li></settlement></list><tree><country name="Espagne"><noRegion><name sortKey="Marti Ass, Jose Elix" sort="Marti Ass, Jose Elix" uniqKey="Marti Ass J" first="José-Félix" last="Martí-Mass">José-Félix Martí-Mass</name></noRegion><name sortKey="Bola O, Maria J" sort="Bola O, Maria J" uniqKey="Bola O M" first="Maria J." last="Bola O">Maria J. Bola O</name><name sortKey="De Munain, Adolfo L Pez" sort="De Munain, Adolfo L Pez" uniqKey="De Munain A" first="Adolfo L Pez" last="De Munain">Adolfo L Pez De Munain</name><name sortKey="De Munain, Adolfo L Pez" sort="De Munain, Adolfo L Pez" uniqKey="De Munain A" first="Adolfo L Pez" last="De Munain">Adolfo L Pez De Munain</name><name sortKey="Ferrer, Isidre" sort="Ferrer, Isidre" uniqKey="Ferrer I" first="Isidre" last="Ferrer">Isidre Ferrer</name><name sortKey="Gorostidi, Ana" sort="Gorostidi, Ana" uniqKey="Gorostidi A" first="Ana" last="Gorostidi">Ana Gorostidi</name><name sortKey="Marti Ass, Jose Elix" sort="Marti Ass, Jose Elix" uniqKey="Marti Ass J" first="José-Félix" last="Martí-Mass">José-Félix Martí-Mass</name><name sortKey="Moreno, Fermin" sort="Moreno, Fermin" uniqKey="Moreno F" first="Fermin" last="Moreno">Fermin Moreno</name><name sortKey="Ruiz Artinez, Javier" sort="Ruiz Artinez, Javier" uniqKey="Ruiz Artinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name><name sortKey="Ruiz Artinez, Javier" sort="Ruiz Artinez, Javier" uniqKey="Ruiz Artinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name><name sortKey="Ruiz, Irune" sort="Ruiz, Irune" uniqKey="Ruiz I" first="Irune" last="Ruiz">Irune Ruiz</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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