Rapidly progressive sporadic dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG repeat expansion
Identifieur interne : 003224 ( Main/Curation ); précédent : 003223; suivant : 003225Rapidly 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.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Ataxia, Atrophy, Choreoathetosis, Disease Progression, Globus Pallidus (pathology), Humans, Inclusion, Inclusion Bodies (pathology), Male, Middle Aged, Myoclonic Epilepsies, Progressive (complications), Myoclonic Epilepsies, Progressive (genetics), Myoclonic Epilepsies, Progressive (pathology), Nervous system diseases, Sporadic, Subthalamic Nucleus (pathology), Trinucleotide Repeat Expansion (genetics), ataxia, choreoathetosis, dentatorubral pallidoluysian atrophy, inclusions.
- MESH :
- complications : Myoclonic Epilepsies, Progressive.
- genetics : Myoclonic Epilepsies, Progressive, Trinucleotide Repeat Expansion.
- pathology : Globus Pallidus, Inclusion Bodies, Myoclonic Epilepsies, Progressive, Subthalamic Nucleus.
- Disease Progression, Humans, Male, Middle Aged.
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
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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="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>Atrophy</term><term>Choreoathetosis</term><term>Disease Progression</term><term>Globus Pallidus (pathology)</term><term>Humans</term><term>Inclusion</term><term>Inclusion Bodies (pathology)</term><term>Male</term><term>Middle Aged</term><term>Myoclonic Epilepsies, Progressive (complications)</term><term>Myoclonic Epilepsies, Progressive (genetics)</term><term>Myoclonic Epilepsies, Progressive (pathology)</term><term>Nervous system diseases</term><term>Sporadic</term><term>Subthalamic Nucleus (pathology)</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>ataxia</term><term>choreoathetosis</term><term>dentatorubral pallidoluysian atrophy</term><term>inclusions</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Globus Pallidus</term><term>Inclusion Bodies</term><term>Myoclonic Epilepsies, Progressive</term><term>Subthalamic Nucleus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Disease Progression</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie</term><term>Atrophie</term><term>Choréoathétose</term><term>Inclusion</term><term>Sporadique</term><term>Système nerveux pathologie</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><double idat="0885-3185:2006:Espay A:rapidly:progressive:sporadic"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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="4"><inist:fA14 i1="01"><s1>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati</s1><s2>Cincinnati, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Bergeron, Catherine" sort="Bergeron, Catherine" uniqKey="Bergeron C" first="Catherine" last="Bergeron">Catherine Bergeron</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Chen, Robert" sort="Chen, Robert" uniqKey="Chen R" first="Robert" last="Chen">Robert Chen</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></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="4"><inist:fA14 i1="01"><s1>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0090893</idno><date when="2006">2006</date><idno type="stanalyst">PASCAL 07-0090893 INIST</idno><idno type="RBID">Pascal:07-0090893</idno><idno type="wicri:Area/PascalFrancis/Corpus">001846</idno><idno type="wicri:Area/PascalFrancis/Curation">001475</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001927</idno><idno type="wicri:doubleKey">0885-3185:2006:Espay A:rapidly:progressive:sporadic</idno><idno type="wicri:Area/Main/Merge">004A22</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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="4"><inist:fA14 i1="01"><s1>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation><affiliation wicri:level="2"><inist:fA14 i1="02"><s1>The Neuroscience Institute, Department of Neurology, Movement Disorders Center, University of Cincinnati</s1><s2>Cincinnati, Ohio</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Bergeron, Catherine" sort="Bergeron, Catherine" uniqKey="Bergeron C" first="Catherine" last="Bergeron">Catherine Bergeron</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Laboratory Medicine and Pathobiology, Centre for Research in Neurodegenerative Diseases, University of Toronto & Department of Pathology, University Health Network</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>2 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Chen, Robert" sort="Chen, Robert" uniqKey="Chen R" first="Robert" last="Chen">Robert Chen</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></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="4"><inist:fA14 i1="01"><s1>Toronto Western Research Institute and Division of Neurology, Department of Medicine, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia</term><term>Atrophy</term><term>Choreoathetosis</term><term>Inclusion</term><term>Nervous system diseases</term><term>Sporadic</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Atrophie</term><term>Ataxie</term><term>Choréoathétose</term><term>Sporadique</term><term>Inclusion</term></keywords></textClass></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.</div></front></TEI></INIST><ISTEX><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></author><author><name sortKey="Bergeron, Catherine" sort="Bergeron, Catherine" uniqKey="Bergeron C" first="Catherine" last="Bergeron">Catherine Bergeron</name></author><author><name sortKey="Chen, Robert" sort="Chen, Robert" uniqKey="Chen R" first="Robert" last="Chen">Robert Chen</name></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name></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><idno type="wicri:Area/Istex/Checkpoint">001C83</idno><idno type="wicri:doubleKey">0885-3185:2006:Espay A:rapidly:progressive:sporadic</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:17078058</idno><idno type="wicri:Area/PubMed/Corpus">002A30</idno><idno type="wicri:Area/PubMed/Curation">002A30</idno><idno type="wicri:Area/PubMed/Checkpoint">002B24</idno><idno type="wicri:Area/Ncbi/Merge">001909</idno><idno type="wicri:Area/Ncbi/Curation">001909</idno><idno type="wicri:Area/Ncbi/Checkpoint">001909</idno><idno type="wicri:doubleKey">0885-3185:2006:Espay A:rapidly:progressive:sporadic</idno><idno type="wicri:Area/Main/Merge">004537</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="4"><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><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="2"><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><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Bergeron, Catherine" sort="Bergeron, Catherine" uniqKey="Bergeron C" first="Catherine" last="Bergeron">Catherine Bergeron</name><affiliation wicri:level="4"><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><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="1"><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><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Chen, Robert" sort="Chen, Robert" uniqKey="Chen R" first="Robert" last="Chen">Robert Chen</name><affiliation wicri:level="4"><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><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></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="4"><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><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></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>Disease Progression</term><term>Globus Pallidus (pathology)</term><term>Humans</term><term>Inclusion Bodies (pathology)</term><term>Male</term><term>Middle Aged</term><term>Myoclonic Epilepsies, Progressive (complications)</term><term>Myoclonic Epilepsies, Progressive (genetics)</term><term>Myoclonic Epilepsies, Progressive (pathology)</term><term>Subthalamic Nucleus (pathology)</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>ataxia</term><term>choreoathetosis</term><term>dentatorubral pallidoluysian atrophy</term><term>inclusions</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Globus Pallidus</term><term>Inclusion Bodies</term><term>Myoclonic Epilepsies, Progressive</term><term>Subthalamic Nucleus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Disease Progression</term><term>Humans</term><term>Male</term><term>Middle Aged</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></ISTEX></double></record>Pour manipuler ce document sous Unix (Dilib)
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