Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion
Identifieur interne : 003401 ( Istex/Curation ); précédent : 003400; suivant : 003402Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion
Auteurs : Alberto J. Espay [Canada, États-Unis] ; Catherine Bergeron [Canada] ; Robert Chen [Canada] ; Anthony E. Lang [Canada]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-12.
English descriptors
Abstract
A 48‐year‐old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21158
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003401
Links to Exploration step
ISTEX:033FC5369A3C0B2A2C348FD3D03EDCD1C24E6CD1Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion</title><author><name sortKey="Espay, Alberto J" sort="Espay, Alberto J" uniqKey="Espay A" first="Alberto J." last="Espay">Alberto J. Espay</name><affiliation wicri:level="1"><mods:affiliation>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati, Cincinnati, Ohio, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati, Cincinnati, Ohio</wicri:regionArea></affiliation></author><author><name sortKey="Bergeron, Catherine" sort="Bergeron, Catherine" uniqKey="Bergeron C" first="Catherine" last="Bergeron">Catherine Bergeron</name><affiliation wicri:level="1"><mods:affiliation>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network, Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Chen, Robert" sort="Chen, Robert" uniqKey="Chen R" first="Robert" last="Chen">Robert Chen</name><affiliation wicri:level="1"><mods:affiliation>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation wicri:level="1"><mods:affiliation>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:033FC5369A3C0B2A2C348FD3D03EDCD1C24E6CD1</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1002/mds.21158</idno><idno type="url">https://api.istex.fr/document/033FC5369A3C0B2A2C348FD3D03EDCD1C24E6CD1/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003401</idno><idno type="wicri:Area/Istex/Curation">003401</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion</title><author><name sortKey="Espay, Alberto J" sort="Espay, Alberto J" uniqKey="Espay A" first="Alberto J." last="Espay">Alberto J. Espay</name><affiliation wicri:level="1"><mods:affiliation>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati, Cincinnati, Ohio, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati, Cincinnati, Ohio</wicri:regionArea></affiliation></author><author><name sortKey="Bergeron, Catherine" sort="Bergeron, Catherine" uniqKey="Bergeron C" first="Catherine" last="Bergeron">Catherine Bergeron</name><affiliation wicri:level="1"><mods:affiliation>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network, Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Chen, Robert" sort="Chen, Robert" uniqKey="Chen R" first="Robert" last="Chen">Robert Chen</name><affiliation wicri:level="1"><mods:affiliation>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation wicri:level="1"><mods:affiliation>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2006-12">2006-12</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="2251">2251</biblScope><biblScope unit="page" to="2254">2254</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">033FC5369A3C0B2A2C348FD3D03EDCD1C24E6CD1</idno><idno type="DOI">10.1002/mds.21158</idno><idno type="ArticleID">MDS21158</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ataxia</term><term>choreoathetosis</term><term>dentatorubral pallidoluysian atrophy</term><term>inclusions</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 48‐year‐old man developed progressive hemidystonia and postural impairment with falls, followed by choreoathetosis, hyporeflexia, ataxia, supranuclear vertical gaze palsy, and dementia, lasting only 3.5 years from symptom onset to death. Family history and genetic testing were unrevealing. Neuropathology showed findings identical to genetic dentatorubral pallidoluysian atrophy (DRPLA), except for the absence of intranuclear inclusions and the presence of intracytoplasmic inclusions in the pons, striatum, thalamus, and subthalamic nucleus. This case expands the clinical and neuropathological spectrum of DRPLA and supports the hypothesis that aggregates may not be intrinsically pathogenic. © 2006 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003401 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 003401 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:033FC5369A3C0B2A2C348FD3D03EDCD1C24E6CD1
|texte= Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion
}}
| This area was generated with Dilib version V0.6.23. |  |