Fronto-striatal dysfunction in type 3 familial cortical myoclonic tremor epilepsy occurring during aging
Identifieur interne : 001419 ( Main/Exploration ); précédent : 001418; suivant : 001420Fronto-striatal dysfunction in type 3 familial cortical myoclonic tremor epilepsy occurring during aging
Auteurs : Eloi Magnin [France] ; Marie Vidailhet [France] ; Ilham Ryff [France] ; Sabrina Ferreira [France] ; Pierre Labauge [France] ; Lucien Rumbach [France]Source :
- Journal of neurology [ 0340-5354 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
The aim of this work is to study the cognition, progressive gait impairment, and neuroimaging findings in two patients over 65 years old of the previously described type 3 familial cortical myoclonic tremor with epilepsy (FCMTE3). We report investigations in two of these five FCMTE3 subjects over 65 and showing progressive gait disorders. They both had a pseudo-Parkinson's way of walking and visual intolerance to bright light and brightness contrast without EEG abnormalities exacerbating cortical myoclonus or triggering seizure. Case 1 had moderate gait impairment and a severe frontal syndrome. Case 2 had severe gait impairment and diffuse cognitive disorders. Both cases had cortical hypoperfusion (predominantly in the left frontal lobe) and no cerebellar abnormality on cerebral perfusion SPECT. DAT-SPECT showed dopaminergic depletion. These data indicate fronto-striatal dysfunction associated with gait impairment and cognitive disorders appearing after several decades of disease progression. This gives clues to understanding the pathogenesis and evolution of FCMTE3. Permanent myoclonic discharges or long-term valproate treatment may cause significant toxic effects on neurons (dopaminergic and frontal neurons). Further functional and molecular analyses are required in order to better understand this pathology and the consequences of chronic cortical myoclonus.
Affiliations:
- France
- Bourgogne-Franche-Comté, Franche-Comté, Languedoc-Roussillon, Occitanie (région administrative), Île-de-France
- Besançon, Paris
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wicri:level="3"><inist:fA14 i1="02"><s1>Department of Functional Neuro-imaging, EA 481 Neuroscience, IFR 133, University of Franche-Comte</s1><s2>Besançon 25030</s2><s3>FRA</s3><sZ>1 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region><region type="old region" nuts="2">Franche-Comté</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Memory Center of Research and Resources (CMRR), University Hospital of Besancon</s1><s2>Besançon 25030</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region><region type="old region" nuts="2">Franche-Comté</region></placeName></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Neurology, Groupe Hospitalier Pitié-Salpêtrière, AP-HP</s1><s2>Paris 75013</s2><s3>FRA</s3><sZ>2 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), CNRS UMR 7225, UPMC Universite Paris 6/ Inserm UMR_S 975, AP-HP</s1><s2>Paris</s2><s3>FRA</s3><sZ>2 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Ryff, Ilham" sort="Ryff, Ilham" uniqKey="Ryff I" first="Ilham" last="Ryff">Ilham Ryff</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Memory Center of Research and Resources (CMRR), University Hospital of Besancon</s1><s2>Besançon 25030</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region><region type="old region" nuts="2">Franche-Comté</region></placeName></affiliation></author><author><name sortKey="Ferreira, Sabrina" sort="Ferreira, Sabrina" uniqKey="Ferreira S" first="Sabrina" last="Ferreira">Sabrina Ferreira</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Memory Center of Research and Resources (CMRR), University Hospital of Besancon</s1><s2>Besançon 25030</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region><region type="old region" nuts="2">Franche-Comté</region></placeName></affiliation></author><author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Neurology, CHU de Montpellier</s1><s2>Montpellier 34295</s2><s3>FRA</s3><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region></placeName></affiliation></author><author><name sortKey="Rumbach, Lucien" sort="Rumbach, Lucien" uniqKey="Rumbach L" first="Lucien" last="Rumbach">Lucien Rumbach</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital of Besançon</s1><s2>Besançon 25030</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region><region type="old region" nuts="2">Franche-Comté</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Memory Center of Research and Resources (CMRR), University Hospital of Besancon</s1><s2>Besançon 25030</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region><region type="old region" nuts="2">Franche-Comté</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Clinical Investigation, Center Inserm CIT 808, University Hospital of Besançon</s1><s2>Besançon</s2><s3>FRA</s3><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Franche-Comté</region><settlement type="city">Besançon</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Journal of neurology</title><title level="j" type="abbreviated">J. neurol.</title><idno type="ISSN">0340-5354</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Journal of neurology</title><title level="j" type="abbreviated">J. neurol.</title><idno type="ISSN">0340-5354</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cognitive disorder</term><term>Dopamine</term><term>Dysfunction</term><term>Epilepsy</term><term>Nervous system diseases</term><term>Parkinson disease</term><term>Senescence</term><term>Tremor</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Tremblement</term><term>Epilepsie</term><term>Trouble cognitif</term><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Trouble fonctionnel</term><term>Sénescence</term><term>Dopamine</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The aim of this work is to study the cognition, progressive gait impairment, and neuroimaging findings in two patients over 65 years old of the previously described type 3 familial cortical myoclonic tremor with epilepsy (FCMTE3). We report investigations in two of these five FCMTE3 subjects over 65 and showing progressive gait disorders. They both had a pseudo-Parkinson's way of walking and visual intolerance to bright light and brightness contrast without EEG abnormalities exacerbating cortical myoclonus or triggering seizure. Case 1 had moderate gait impairment and a severe frontal syndrome. Case 2 had severe gait impairment and diffuse cognitive disorders. Both cases had cortical hypoperfusion (predominantly in the left frontal lobe) and no cerebellar abnormality on cerebral perfusion SPECT. DAT-SPECT showed dopaminergic depletion. These data indicate fronto-striatal dysfunction associated with gait impairment and cognitive disorders appearing after several decades of disease progression. This gives clues to understanding the pathogenesis and evolution of FCMTE3. Permanent myoclonic discharges or long-term valproate treatment may cause significant toxic effects on neurons (dopaminergic and frontal neurons). Further functional and molecular analyses are required in order to better understand this pathology and the consequences of chronic cortical myoclonus.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Bourgogne-Franche-Comté</li><li>Franche-Comté</li><li>Languedoc-Roussillon</li><li>Occitanie (région administrative)</li><li>Île-de-France</li></region><settlement><li>Besançon</li><li>Paris</li></settlement></list><tree><country name="France"><region name="Bourgogne-Franche-Comté"><name sortKey="Magnin, Eloi" sort="Magnin, Eloi" uniqKey="Magnin E" first="Eloi" last="Magnin">Eloi Magnin</name></region><name sortKey="Ferreira, Sabrina" sort="Ferreira, Sabrina" uniqKey="Ferreira S" first="Sabrina" last="Ferreira">Sabrina Ferreira</name><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><name sortKey="Magnin, Eloi" sort="Magnin, Eloi" uniqKey="Magnin E" first="Eloi" last="Magnin">Eloi Magnin</name><name sortKey="Magnin, Eloi" sort="Magnin, Eloi" uniqKey="Magnin E" first="Eloi" last="Magnin">Eloi Magnin</name><name sortKey="Rumbach, Lucien" sort="Rumbach, Lucien" uniqKey="Rumbach L" first="Lucien" last="Rumbach">Lucien Rumbach</name><name sortKey="Rumbach, Lucien" sort="Rumbach, Lucien" uniqKey="Rumbach L" first="Lucien" last="Rumbach">Lucien Rumbach</name><name sortKey="Rumbach, Lucien" sort="Rumbach, Lucien" uniqKey="Rumbach L" first="Lucien" last="Rumbach">Lucien Rumbach</name><name sortKey="Ryff, Ilham" sort="Ryff, Ilham" uniqKey="Ryff I" first="Ilham" last="Ryff">Ilham Ryff</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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