TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea
Identifieur interne : 002038 ( Main/Exploration ); précédent : 002037; suivant : 002039TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea
Auteurs : Gabor G. Kovacs [Autriche, États-Unis, Hongrie] ; Jill R. Murrell [États-Unis] ; Sandor Horvath [Hongrie] ; Laszlo Haraszti [Hongrie] ; Katalin Majtenyi [Hongrie] ; Maria J. Molnar [Hongrie] ; Herbert Budka [Autriche] ; Bernardino Ghetti [États-Unis] ; Salvatore Spina [États-Unis, Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-09-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Amyotrophic lateral sclerosis, Chorea, Chorea (diagnosis), Chorea (genetics), DNA Mutational Analysis, DNA-Binding Proteins (genetics), DNA-Binding Proteins (metabolism), Family Health, Female, Frontotemporal Dementia (diagnosis), Frontotemporal Dementia (genetics), Frontotemporal dementia, Gaze, Genetic Predisposition to Disease, Glutamic Acid (genetics), Humans, Lysine (genetics), Magnetic Resonance Imaging, Male, Middle Aged, Mutation (genetics), Nervous system diseases, Neuropsychological Tests, Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), TDP‐43, Tomography Scanners, X-Ray Computed, amyotrophic lateral sclerosis, atypical dementia, movement disorders, neuropathology.
- MESH :
- chemical , genetics : DNA-Binding Proteins, Glutamic Acid, Lysine.
- diagnosis : Chorea, Frontotemporal Dementia, Supranuclear Palsy, Progressive.
- genetics : Chorea, Frontotemporal Dementia, Mutation, Supranuclear Palsy, Progressive.
- chemical , metabolism : DNA-Binding Proteins.
- DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neuropsychological Tests, Tomography Scanners, X-Ray Computed.
Abstract
TDP‐43 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in a carrier of the novel K263E TARDBP variation, who developed frontotemporal dementia, supranuclear palsy, and chorea, but no signs of motor neuron disease. Neuropathologic examination revealed neuronal and glial TDP‐43‐immunoreactive deposits, predominantly in subcortical nuclei and brainstem. This is the first report of a TARDBP variation associated with a neurodegenerative syndrome other than ALS. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22697
Affiliations:
- Autriche, Hongrie, Italie, États-Unis
- Hongrie centrale, Indiana, Vienne (Autriche)
- Budapest, Vienne (Autriche)
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Le document en format XML
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Murrell</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea><placeName><region type="state">Indiana</region></placeName></affiliation></author><author><name sortKey="Horvath, Sandor" sort="Horvath, Sandor" uniqKey="Horvath S" first="Sandor" last="Horvath">Sandor Horvath</name><affiliation wicri:level="1"><country xml:lang="fr">Hongrie</country><wicri:regionArea>Department of Neurology, Ferenc Flor Hospital, Kistarcsa</wicri:regionArea><wicri:noRegion>Kistarcsa</wicri:noRegion></affiliation></author><author><name sortKey="Haraszti, Laszlo" sort="Haraszti, Laszlo" uniqKey="Haraszti L" first="Laszlo" last="Haraszti">Laszlo Haraszti</name><affiliation wicri:level="1"><country xml:lang="fr">Hongrie</country><wicri:regionArea>Department of Psychiatry, Ferenc Flor Hospital, Kistarcsa</wicri:regionArea><wicri:noRegion>Kistarcsa</wicri:noRegion></affiliation></author><author><name sortKey="Majtenyi, Katalin" sort="Majtenyi, Katalin" uniqKey="Majtenyi K" first="Katalin" last="Majtenyi">Katalin Majtenyi</name><affiliation wicri:level="3"><country xml:lang="fr">Hongrie</country><wicri:regionArea>National Institute of Psychiatry and Neurology, Budapest</wicri:regionArea><placeName><settlement type="city">Budapest</settlement><region nuts="2">Hongrie centrale</region></placeName></affiliation></author><author><name sortKey="Molnar, Maria J" sort="Molnar, Maria J" uniqKey="Molnar M" first="Maria J." last="Molnar">Maria J. 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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="2009-09-15">2009-09-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1842">1842</biblScope><biblScope unit="page" to="1847">1847</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">AB2FE497E09C8ADC123DB97AAB3BA90DC1E8CC8F</idno><idno type="DOI">10.1002/mds.22697</idno><idno type="ArticleID">MDS22697</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amyotrophic lateral sclerosis</term><term>Chorea</term><term>Chorea (diagnosis)</term><term>Chorea (genetics)</term><term>DNA Mutational Analysis</term><term>DNA-Binding Proteins (genetics)</term><term>DNA-Binding Proteins (metabolism)</term><term>Family Health</term><term>Female</term><term>Frontotemporal Dementia (diagnosis)</term><term>Frontotemporal Dementia (genetics)</term><term>Frontotemporal dementia</term><term>Gaze</term><term>Genetic Predisposition to Disease</term><term>Glutamic Acid (genetics)</term><term>Humans</term><term>Lysine (genetics)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>Neuropsychological Tests</term><term>Supranuclear Palsy, Progressive (diagnosis)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>TDP‐43</term><term>Tomography Scanners, X-Ray Computed</term><term>amyotrophic lateral sclerosis</term><term>atypical dementia</term><term>movement disorders</term><term>neuropathology</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term><term>Glutamic Acid</term><term>Lysine</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term><term>Frontotemporal Dementia</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Frontotemporal Dementia</term><term>Mutation</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>DNA-Binding Proteins</term></keywords><keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Tomography Scanners, X-Ray Computed</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Démence frontotemporale</term><term>Pathologie du système nerveux</term><term>Regard</term><term>Sclérose latérale amyotrophique</term><term>Syndrome choréique</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">TDP‐43 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in a carrier of the novel K263E TARDBP variation, who developed frontotemporal dementia, supranuclear palsy, and chorea, but no signs of motor neuron disease. Neuropathologic examination revealed neuronal and glial TDP‐43‐immunoreactive deposits, predominantly in subcortical nuclei and brainstem. This is the first report of a TARDBP variation associated with a neurodegenerative syndrome other than ALS. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Autriche</li><li>Hongrie</li><li>Italie</li><li>États-Unis</li></country><region><li>Hongrie centrale</li><li>Indiana</li><li>Vienne (Autriche)</li></region><settlement><li>Budapest</li><li>Vienne (Autriche)</li></settlement></list><tree><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Kovacs, Gabor G" sort="Kovacs, Gabor G" uniqKey="Kovacs G" first="Gabor G." last="Kovacs">Gabor G. Kovacs</name></region><name sortKey="Budka, Herbert" sort="Budka, Herbert" uniqKey="Budka H" first="Herbert" last="Budka">Herbert Budka</name></country><country name="États-Unis"><region name="Indiana"><name sortKey="Kovacs, Gabor G" sort="Kovacs, Gabor G" uniqKey="Kovacs G" first="Gabor G." last="Kovacs">Gabor G. Kovacs</name></region><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name><name sortKey="Murrell, Jill R" sort="Murrell, Jill R" uniqKey="Murrell J" first="Jill R." last="Murrell">Jill R. Murrell</name><name sortKey="Spina, Salvatore" sort="Spina, Salvatore" uniqKey="Spina S" first="Salvatore" last="Spina">Salvatore Spina</name></country><country name="Hongrie"><region name="Hongrie centrale"><name sortKey="Kovacs, Gabor G" sort="Kovacs, Gabor G" uniqKey="Kovacs G" first="Gabor G." last="Kovacs">Gabor G. Kovacs</name></region><name sortKey="Haraszti, Laszlo" sort="Haraszti, Laszlo" uniqKey="Haraszti L" first="Laszlo" last="Haraszti">Laszlo Haraszti</name><name sortKey="Horvath, Sandor" sort="Horvath, Sandor" uniqKey="Horvath S" first="Sandor" last="Horvath">Sandor Horvath</name><name sortKey="Majtenyi, Katalin" sort="Majtenyi, Katalin" uniqKey="Majtenyi K" first="Katalin" last="Majtenyi">Katalin Majtenyi</name><name sortKey="Molnar, Maria J" sort="Molnar, Maria J" uniqKey="Molnar M" first="Maria J." last="Molnar">Maria J. Molnar</name></country><country name="Italie"><noRegion><name sortKey="Spina, Salvatore" sort="Spina, Salvatore" uniqKey="Spina S" first="Salvatore" last="Spina">Salvatore Spina</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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