MovDisordV3, Main, Curation, bibRecord, 005022

Early‐onset cerebellar ataxia (EOCA) with retained reflexes: Reduced cerebellar benzodiazepine‐receptor binding, progressive metabolic and cognitive impairment

Identifieur interne : 005022 ( Main/Curation ); précédent : 005021; suivant : 005023

Early‐onset cerebellar ataxia (EOCA) with retained reflexes: Reduced cerebellar benzodiazepine‐receptor binding, progressive metabolic and cognitive impairment

Auteurs : Rüdiger Mielke [Allemagne] ; Rüdiger Hilker [Allemagne] ; Gerald Weber-Luxenburger [Allemagne] ; Josef Kessler [Allemagne] ; Wolf-Dieter Heiss [Allemagne]

Source :

Movement Disorders [ 0885-3185 ] ; 1998-07.

RBID : ISTEX:01E16BEDB67E950FDF094ADE63FB01FD16E91139

Descripteurs français

Pascal (Inist)
- Adulte jeune, Age apparition, Agoniste, Ataxie cérébelleuse, Diagnostic différentiel, Etude familiale, Flumazénil, Métabolisme, Positon, Précoce, Psychométrie, Récepteur benzodiazépinique, Réflexe tendineux, Tomoscintigraphie, Trouble cognition, Utilisation cérébrale locale glucose.

English descriptors

KwdEn :
- Adult, Age of onset, Agonist, Benzodiazepine receptor, Blood Glucose (metabolism), Brain Mapping, Cerebellar ataxia, Cerebellum (physiopathology), Cerebellum (radionuclide imaging), Cognition Disorders (genetics), Cognition Disorders (physiopathology), Cognition Disorders (radionuclide imaging), Cognitive decline, Cognitive disorder, Diagnosis, Differential, Differential diagnostic, Early, Early‐onset cerebellar ataxia, Emission tomography, Energy Metabolism (physiology), Family study, Female, Flumazenil, Flumazenil (pharmacokinetics), Flumazenil binding, Follow-Up Studies, GABA receptor, Humans, Local cerebral glucose utilization, Male, Metabolism, Neuropsychologic testing, Neuropsychological Tests, Positron, Psychometrics, Receptors, GABA-A (genetics), Receptors, GABA-A (physiology), Reflex, Stretch (physiology), Regional cerebral glucose metabolism, Spinocerebellar Degenerations (genetics), Spinocerebellar Degenerations (physiopathology), Spinocerebellar Degenerations (radionuclide imaging), Tendon reflex, Tomography, Emission-Computed, Young adult.
MESH :
- chemical , genetics : Receptors, GABA-A.
- chemical , metabolism : Blood Glucose.
- genetics : Cognition Disorders, Spinocerebellar Degenerations.
- chemical , pharmacokinetics : Flumazenil.
- physiology : Energy Metabolism, Receptors, GABA-A, Reflex, Stretch.
- physiopathology : Cerebellum, Cognition Disorders, Spinocerebellar Degenerations.
- radionuclide imaging : Cerebellum, Cognition Disorders, Spinocerebellar Degenerations.
- Adult, Brain Mapping, Diagnosis, Differential, Female, Follow-Up Studies, Humans, Male, Neuropsychological Tests, Tomography, Emission-Computed.

Abstract

A family with two members who had early‐onset cerebellar ataxia (EOCA) with retained tendon reflexes had, in addition to their motor deficits, a progressive impairment of cognitive and visuospatial abilities. We used positron emission tomography (PET) with 11C‐flumazenil to study gammaaminobutyric type A/benzodiazepine receptor binding (BZR) and 18F‐2‐fluoro‐2‐deoxy‐D‐glucose to analyze longitudinally regional cerebral glucose metabolism. Flumazenil‐PET demonstrated loss of BZR binding that has not been shown in Friedreich's ataxia and olivopontocerebellar atrophy. These findings may be useful for differentiation of EOCA from other types of cerebellar ataxia. In comparison to age‐matched control subjects, these patients showed a global metabolic decline and predominant hypometabolism in the thalamus and cerebellum. The progressive metabolic derangement may be explainable by a disturbed integrity of cognition‐related networks resulting from secondary degeneration of cerebello‐thalamo‐cortical projections.

Url:

https://api.istex.fr/document/01E16BEDB67E950FDF094ADE63FB01FD16E91139/fulltext/pdf

DOI: 10.1002/mds.870130423

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ISTEX:01E16BEDB67E950FDF094ADE63FB01FD16E91139

Le document en format XML

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<term>Blood Glucose (metabolism)</term>
<term>Brain Mapping</term>
<term>Cerebellar ataxia</term>
<term>Cerebellum (physiopathology)</term>
<term>Cerebellum (radionuclide imaging)</term>
<term>Cognition Disorders (genetics)</term>
<term>Cognition Disorders (physiopathology)</term>
<term>Cognition Disorders (radionuclide imaging)</term>
<term>Cognitive decline</term>
<term>Cognitive disorder</term>
<term>Diagnosis, Differential</term>
<term>Differential diagnostic</term>
<term>Early</term>
<term>Early‐onset cerebellar ataxia</term>
<term>Emission tomography</term>
<term>Energy Metabolism (physiology)</term>
<term>Family study</term>
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<term>Flumazenil (pharmacokinetics)</term>
<term>Flumazenil binding</term>
<term>Follow-Up Studies</term>
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<term>Local cerebral glucose utilization</term>
<term>Male</term>
<term>Metabolism</term>
<term>Neuropsychologic testing</term>
<term>Neuropsychological Tests</term>
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<term>Psychometrics</term>
<term>Receptors, GABA-A (genetics)</term>
<term>Receptors, GABA-A (physiology)</term>
<term>Reflex, Stretch (physiology)</term>
<term>Regional cerebral glucose metabolism</term>
<term>Spinocerebellar Degenerations (genetics)</term>
<term>Spinocerebellar Degenerations (physiopathology)</term>
<term>Spinocerebellar Degenerations (radionuclide imaging)</term>
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<term>Tomography, Emission-Computed</term>
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<term>Brain Mapping</term>
<term>Diagnosis, Differential</term>
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<term>Follow-Up Studies</term>
<term>Humans</term>
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<term>Récepteur benzodiazépinique</term>
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<front><div type="abstract" xml:lang="en">A family with two members who had early‐onset cerebellar ataxia (EOCA) with retained tendon reflexes had, in addition to their motor deficits, a progressive impairment of cognitive and visuospatial abilities. We used positron emission tomography (PET) with 11C‐flumazenil to study gammaaminobutyric type A/benzodiazepine receptor binding (BZR) and 18F‐2‐fluoro‐2‐deoxy‐D‐glucose to analyze longitudinally regional cerebral glucose metabolism. Flumazenil‐PET demonstrated loss of BZR binding that has not been shown in Friedreich's ataxia and olivopontocerebellar atrophy. These findings may be useful for differentiation of EOCA from other types of cerebellar ataxia. In comparison to age‐matched control subjects, these patients showed a global metabolic decline and predominant hypometabolism in the thalamus and cerebellum. The progressive metabolic derangement may be explainable by a disturbed integrity of cognition‐related networks resulting from secondary degeneration of cerebello‐thalamo‐cortical projections.</div>
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<author><name sortKey="Weber Luxenburger, G" sort="Weber Luxenburger, G" uniqKey="Weber Luxenburger G" first="G." last="Weber-Luxenburger">G. Weber-Luxenburger</name>
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<author><name sortKey="Kessler, J" sort="Kessler, J" uniqKey="Kessler J" first="J." last="Kessler">J. Kessler</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-Institut für Neurologische Forschung and Universitätsklinik für Neurologie.</s1>
<s2>Köln</s2>
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<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heiss, W D" sort="Heiss, W D" uniqKey="Heiss W" first="W.-D." last="Heiss">W.-D. Heiss</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Max-Planck-Institut für Neurologische Forschung and Universitätsklinik für Neurologie.</s1>
<s2>Köln</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
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<sZ>3 aut.</sZ>
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<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</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="1998">1998</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term>
<term>Agonist</term>
<term>Benzodiazepine receptor</term>
<term>Cerebellar ataxia</term>
<term>Cognitive disorder</term>
<term>Differential diagnostic</term>
<term>Early</term>
<term>Emission tomography</term>
<term>Family study</term>
<term>Flumazenil</term>
<term>Local cerebral glucose utilization</term>
<term>Metabolism</term>
<term>Positron</term>
<term>Psychometrics</term>
<term>Tendon reflex</term>
<term>Young adult</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Age apparition</term>
<term>Précoce</term>
<term>Réflexe tendineux</term>
<term>Trouble cognition</term>
<term>Tomoscintigraphie</term>
<term>Positon</term>
<term>Flumazénil</term>
<term>Agoniste</term>
<term>Récepteur benzodiazépinique</term>
<term>Métabolisme</term>
<term>Etude familiale</term>
<term>Diagnostic différentiel</term>
<term>Psychométrie</term>
<term>Adulte jeune</term>
<term>Ataxie cérébelleuse</term>
<term>Utilisation cérébrale locale glucose</term>
</keywords>
</textClass>
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<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Early‐onset cerebellar ataxia (EOCA) with retained reflexes: Reduced cerebellar benzodiazepine‐receptor binding, progressive metabolic and cognitive impairment</title>
<author><name sortKey="Mielke, Rudiger" sort="Mielke, Rudiger" uniqKey="Mielke R" first="Rüdiger" last="Mielke">Rüdiger Mielke</name>
</author>
<author><name sortKey="Hilker, Rudiger" sort="Hilker, Rudiger" uniqKey="Hilker R" first="Rüdiger" last="Hilker">Rüdiger Hilker</name>
</author>
<author><name sortKey="Weber Uxenburger, Gerald" sort="Weber Uxenburger, Gerald" uniqKey="Weber Uxenburger G" first="Gerald" last="Weber-Luxenburger">Gerald Weber-Luxenburger</name>
</author>
<author><name sortKey="Kessler, Josef" sort="Kessler, Josef" uniqKey="Kessler J" first="Josef" last="Kessler">Josef Kessler</name>
</author>
<author><name sortKey="Heiss, Wolf Ieter" sort="Heiss, Wolf Ieter" uniqKey="Heiss W" first="Wolf-Dieter" last="Heiss">Wolf-Dieter Heiss</name>
</author>
</titleStmt>
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<idno type="RBID">ISTEX:01E16BEDB67E950FDF094ADE63FB01FD16E91139</idno>
<date when="1998" year="1998">1998</date>
<idno type="doi">10.1002/mds.870130423</idno>
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<idno type="wicri:source">PubMed</idno>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Early‐onset cerebellar ataxia (EOCA) with retained reflexes: Reduced cerebellar benzodiazepine‐receptor binding, progressive metabolic and cognitive impairment</title>
<author><name sortKey="Mielke, Rudiger" sort="Mielke, Rudiger" uniqKey="Mielke R" first="Rüdiger" last="Mielke">Rüdiger Mielke</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max‐Planck‐Institut für Neurologische Forschung and Universitätsklinik für Neurologie, Köln</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hilker, Rudiger" sort="Hilker, Rudiger" uniqKey="Hilker R" first="Rüdiger" last="Hilker">Rüdiger Hilker</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max‐Planck‐Institut für Neurologische Forschung and Universitätsklinik für Neurologie, Köln</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Weber Uxenburger, Gerald" sort="Weber Uxenburger, Gerald" uniqKey="Weber Uxenburger G" first="Gerald" last="Weber-Luxenburger">Gerald Weber-Luxenburger</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max‐Planck‐Institut für Neurologische Forschung and Universitätsklinik für Neurologie, Köln</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kessler, Josef" sort="Kessler, Josef" uniqKey="Kessler J" first="Josef" last="Kessler">Josef Kessler</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max‐Planck‐Institut für Neurologische Forschung and Universitätsklinik für Neurologie, Köln</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Heiss, Wolf Ieter" sort="Heiss, Wolf Ieter" uniqKey="Heiss W" first="Wolf-Dieter" last="Heiss">Wolf-Dieter Heiss</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Max‐Planck‐Institut für Neurologische Forschung and Universitätsklinik für Neurologie, Köln</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</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="1998-07">1998-07</date>
<biblScope unit="vol">13</biblScope>
<biblScope unit="issue">4</biblScope>
<biblScope unit="page" from="739">739</biblScope>
<biblScope unit="page" to="745">745</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">01E16BEDB67E950FDF094ADE63FB01FD16E91139</idno>
<idno type="DOI">10.1002/mds.870130423</idno>
<idno type="ArticleID">MDS870130423</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Blood Glucose (metabolism)</term>
<term>Brain Mapping</term>
<term>Cerebellum (physiopathology)</term>
<term>Cerebellum (radionuclide imaging)</term>
<term>Cognition Disorders (genetics)</term>
<term>Cognition Disorders (physiopathology)</term>
<term>Cognition Disorders (radionuclide imaging)</term>
<term>Cognitive decline</term>
<term>Diagnosis, Differential</term>
<term>Early‐onset cerebellar ataxia</term>
<term>Energy Metabolism (physiology)</term>
<term>Female</term>
<term>Flumazenil (pharmacokinetics)</term>
<term>Flumazenil binding</term>
<term>Follow-Up Studies</term>
<term>GABA receptor</term>
<term>Humans</term>
<term>Male</term>
<term>Neuropsychologic testing</term>
<term>Neuropsychological Tests</term>
<term>Receptors, GABA-A (genetics)</term>
<term>Receptors, GABA-A (physiology)</term>
<term>Reflex, Stretch (physiology)</term>
<term>Regional cerebral glucose metabolism</term>
<term>Spinocerebellar Degenerations (genetics)</term>
<term>Spinocerebellar Degenerations (physiopathology)</term>
<term>Spinocerebellar Degenerations (radionuclide imaging)</term>
<term>Tomography, Emission-Computed</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, GABA-A</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Blood Glucose</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term>
<term>Spinocerebellar Degenerations</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="pharmacokinetics" xml:lang="en"><term>Flumazenil</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Energy Metabolism</term>
<term>Receptors, GABA-A</term>
<term>Reflex, Stretch</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cerebellum</term>
<term>Cognition Disorders</term>
<term>Spinocerebellar Degenerations</term>
</keywords>
<keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Cerebellum</term>
<term>Cognition Disorders</term>
<term>Spinocerebellar Degenerations</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Brain Mapping</term>
<term>Diagnosis, Differential</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Humans</term>
<term>Male</term>
<term>Neuropsychological Tests</term>
<term>Tomography, Emission-Computed</term>
</keywords>
</textClass>
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</langUsage>
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</teiHeader>
<front><div type="abstract" xml:lang="en">A family with two members who had early‐onset cerebellar ataxia (EOCA) with retained tendon reflexes had, in addition to their motor deficits, a progressive impairment of cognitive and visuospatial abilities. We used positron emission tomography (PET) with 11C‐flumazenil to study gammaaminobutyric type A/benzodiazepine receptor binding (BZR) and 18F‐2‐fluoro‐2‐deoxy‐D‐glucose to analyze longitudinally regional cerebral glucose metabolism. Flumazenil‐PET demonstrated loss of BZR binding that has not been shown in Friedreich's ataxia and olivopontocerebellar atrophy. These findings may be useful for differentiation of EOCA from other types of cerebellar ataxia. In comparison to age‐matched control subjects, these patients showed a global metabolic decline and predominant hypometabolism in the thalamus and cerebellum. The progressive metabolic derangement may be explainable by a disturbed integrity of cognition‐related networks resulting from secondary degeneration of cerebello‐thalamo‐cortical projections.</div>
</front>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Early‐onset cerebellar ataxia (EOCA) with retained reflexes: Reduced cerebellar benzodiazepine‐receptor binding, progressive metabolic and cognitive impairment

Early‐onset cerebellar ataxia (EOCA) with retained reflexes: Reduced cerebellar benzodiazepine‐receptor binding, progressive metabolic and cognitive impairment

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