Decreased cortical inhibition and yet cerebellar pathology in ‘familial cortical myoclonic tremor with epilepsy’
Identifieur interne : 002F12 ( Main/Exploration ); précédent : 002F11; suivant : 002F13Decreased cortical inhibition and yet cerebellar pathology in ‘familial cortical myoclonic tremor with epilepsy’
Auteurs : Anne-Fleur Van Rootselaar [Pays-Bas] ; Sandra M. A. Van Der Salm [Pays-Bas] ; Lo J. Bour [Pays-Bas] ; Mark J. Edwards [Royaume-Uni] ; Peter Brown [Royaume-Uni] ; Eleonora Aronica [Pays-Bas] ; Johanna M. Rozemuller-Kwakkel [Pays-Bas] ; Peter J. Koehler [Pays-Bas] ; Johannes H. T. M. Koelman [Pays-Bas] ; John C. Rothwell [Royaume-Uni] ; Marina A. J. Tijssen [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-12-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Anatomic pathology, Anticonvulsants (therapeutic use), Cerebellar Diseases (genetics), Cerebellar Diseases (pathology), Cerebellar Diseases (therapy), Cerebellum, Cerebral Cortex (pathology), Cerebral Cortex (physiopathology), Electrophysiology, Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (pathology), Epilepsies, Myoclonic (therapy), Epilepsy, Evoked Potentials, Motor (physiology), Eye Movements (physiology), Female, Humans, Male, Middle Aged, Myoclonus, Nervous system diseases, Nystagmus, Nystagmus, Pathologic (etiology), Pedigree, Pursuit, Smooth (physiology), Saccades (physiology), Transcranial Magnetic Stimulation, Tremor, Tremor (pathology), Tremor (physiopathology), cerebellar Purkinje cell, cortical myoclonus, downbeat nystagmus, epilepsy, intracortical inhibition, tremor.
- MESH :
- chemical , therapeutic use : Anticonvulsants.
- etiology : Nystagmus, Pathologic.
- genetics : Cerebellar Diseases, Epilepsies, Myoclonic.
- pathology : Cerebellar Diseases, Cerebral Cortex, Epilepsies, Myoclonic, Tremor.
- physiology : Evoked Potentials, Motor, Eye Movements, Pursuit, Smooth, Saccades.
- physiopathology : Cerebral Cortex, Tremor.
- therapy : Cerebellar Diseases, Epilepsies, Myoclonic.
- Adult, Aged, Aged, 80 and over, Electrophysiology, Female, Humans, Male, Middle Aged, Pedigree, Transcranial Magnetic Stimulation.
Abstract
Cortical hyperexcitability is a feature of “familial cortical myoclonic tremor with epilepsy” (FCMTE). However, neuropathological investigations in a single FCMTE patient showed isolated cerebellar pathology. Pathological investigations in a second FCMTE patient, reported here, confirmed cerebellar Purkinje cell degeneration and a normal sensorimotor cortex. Subsequently, we sought to explore the nature of cerebellar and motor system pathophysiology in FCMTE. Eye movement recordings and transcranial magnetic stimulation performed in six related FCMTE patients showed impaired saccades and smooth pursuit and downbeat nystagmus upon hyperventilation, as in patients with spinocerebellar ataxia type 6. In FCMTE patients short‐interval intracortical inhibition (SICI) was significantly reduced. Resting motor threshold, recruitment curve, silent period, and intracortical facilitation were normal. The neuropathological and ocular motor abnormalities indicate cerebellar involvement in FCMTE patients. Decreased SICI is compatible with intracortical GABAA‐ergic dysfunction. Cerebellar and intracortical functional changes could result from a common mechanism such as a channelopathy. Alternatively, decreased cortical inhibition may be caused by dysfunction of the cerebello‐thalamo‐cortical loop as a result of primary cerebellar pathology. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21738
Affiliations:
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A." last="Van Der Salm">Sandra M. A. Van Der Salm</name><affiliation wicri:level="3"><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Bour, Lo J" sort="Bour, Lo J" uniqKey="Bour L" first="Lo J." last="Bour">Lo J. Bour</name><affiliation wicri:level="3"><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Aronica, Eleonora" sort="Aronica, Eleonora" uniqKey="Aronica E" first="Eleonora" last="Aronica">Eleonora Aronica</name><affiliation wicri:level="3"><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of (Neuro)pathology Academic Medical Centre, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Rozemuller Wakkel, Johanna M" sort="Rozemuller Wakkel, Johanna M" uniqKey="Rozemuller Wakkel J" first="Johanna M." last="Rozemuller-Kwakkel">Johanna M. Rozemuller-Kwakkel</name><affiliation wicri:level="3"><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of (Neuro)pathology Academic Medical Centre, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of (Neuro)pathology, VU Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Koehler, Peter J" sort="Koehler, Peter J" uniqKey="Koehler P" first="Peter J." last="Koehler">Peter J. Koehler</name><affiliation wicri:level="1"><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Atrium, Heerlen</wicri:regionArea><wicri:noRegion>Heerlen</wicri:noRegion></affiliation></author><author><name sortKey="Koelman, Johannes H T M" sort="Koelman, Johannes H T M" uniqKey="Koelman J" first="Johannes H. T. M." last="Koelman">Johannes H. T. M. Koelman</name><affiliation wicri:level="3"><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Rothwell, John C" sort="Rothwell, John C" uniqKey="Rothwell J" first="John C." last="Rothwell">John C. Rothwell</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name><affiliation wicri:level="3"><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2007-12-15">2007-12-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">16</biblScope><biblScope unit="page" from="2378">2378</biblScope><biblScope unit="page" to="2385">2385</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">C2E30374D6A2FEC90ED718CF828C5FDD8714E966</idno><idno type="DOI">10.1002/mds.21738</idno><idno type="ArticleID">MDS21738</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Anatomic pathology</term><term>Anticonvulsants (therapeutic use)</term><term>Cerebellar Diseases (genetics)</term><term>Cerebellar Diseases (pathology)</term><term>Cerebellar Diseases (therapy)</term><term>Cerebellum</term><term>Cerebral Cortex (pathology)</term><term>Cerebral Cortex (physiopathology)</term><term>Electrophysiology</term><term>Epilepsies, Myoclonic (genetics)</term><term>Epilepsies, Myoclonic (pathology)</term><term>Epilepsies, Myoclonic (therapy)</term><term>Epilepsy</term><term>Evoked Potentials, Motor (physiology)</term><term>Eye Movements (physiology)</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Myoclonus</term><term>Nervous system diseases</term><term>Nystagmus</term><term>Nystagmus, Pathologic (etiology)</term><term>Pedigree</term><term>Pursuit, Smooth (physiology)</term><term>Saccades (physiology)</term><term>Transcranial Magnetic Stimulation</term><term>Tremor</term><term>Tremor (pathology)</term><term>Tremor (physiopathology)</term><term>cerebellar Purkinje cell</term><term>cortical myoclonus</term><term>downbeat nystagmus</term><term>epilepsy</term><term>intracortical inhibition</term><term>tremor</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Anticonvulsants</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Nystagmus, Pathologic</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cerebellar Diseases</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebellar Diseases</term><term>Cerebral Cortex</term><term>Epilepsies, Myoclonic</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Evoked Potentials, Motor</term><term>Eye Movements</term><term>Pursuit, Smooth</term><term>Saccades</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cerebral Cortex</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Cerebellar Diseases</term><term>Epilepsies, Myoclonic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Electrophysiology</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Transcranial Magnetic Stimulation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Anatomopathologie</term><term>Cervelet</term><term>Epilepsie</term><term>Myoclonie</term><term>Nystagmus</term><term>Pathologie du système nerveux</term><term>Tremblement</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Cortical hyperexcitability is a feature of “familial cortical myoclonic tremor with epilepsy” (FCMTE). However, neuropathological investigations in a single FCMTE patient showed isolated cerebellar pathology. Pathological investigations in a second FCMTE patient, reported here, confirmed cerebellar Purkinje cell degeneration and a normal sensorimotor cortex. Subsequently, we sought to explore the nature of cerebellar and motor system pathophysiology in FCMTE. Eye movement recordings and transcranial magnetic stimulation performed in six related FCMTE patients showed impaired saccades and smooth pursuit and downbeat nystagmus upon hyperventilation, as in patients with spinocerebellar ataxia type 6. In FCMTE patients short‐interval intracortical inhibition (SICI) was significantly reduced. Resting motor threshold, recruitment curve, silent period, and intracortical facilitation were normal. The neuropathological and ocular motor abnormalities indicate cerebellar involvement in FCMTE patients. Decreased SICI is compatible with intracortical GABAA‐ergic dysfunction. Cerebellar and intracortical functional changes could result from a common mechanism such as a channelopathy. Alternatively, decreased cortical inhibition may be caused by dysfunction of the cerebello‐thalamo‐cortical loop as a result of primary cerebellar pathology. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li><li>Londres</li></settlement></list><tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Van Rootselaar, Anne Leur" sort="Van Rootselaar, Anne Leur" uniqKey="Van Rootselaar A" first="Anne-Fleur" last="Van Rootselaar">Anne-Fleur Van Rootselaar</name></region><name sortKey="Aronica, Eleonora" sort="Aronica, Eleonora" uniqKey="Aronica E" first="Eleonora" last="Aronica">Eleonora Aronica</name><name sortKey="Bour, Lo J" sort="Bour, Lo J" uniqKey="Bour L" first="Lo J." last="Bour">Lo J. Bour</name><name sortKey="Koehler, Peter J" sort="Koehler, Peter J" uniqKey="Koehler P" first="Peter J." last="Koehler">Peter J. Koehler</name><name sortKey="Koelman, Johannes H T M" sort="Koelman, Johannes H T M" uniqKey="Koelman J" first="Johannes H. T. M." last="Koelman">Johannes H. T. M. Koelman</name><name sortKey="Rozemuller Wakkel, Johanna M" sort="Rozemuller Wakkel, Johanna M" uniqKey="Rozemuller Wakkel J" first="Johanna M." last="Rozemuller-Kwakkel">Johanna M. Rozemuller-Kwakkel</name><name sortKey="Rozemuller Wakkel, Johanna M" sort="Rozemuller Wakkel, Johanna M" uniqKey="Rozemuller Wakkel J" first="Johanna M." last="Rozemuller-Kwakkel">Johanna M. Rozemuller-Kwakkel</name><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name><name sortKey="Van Der Salm, Sandra M A" sort="Van Der Salm, Sandra M A" uniqKey="Van Der Salm S" first="Sandra M. A." last="Van Der Salm">Sandra M. A. Van Der Salm</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name></region><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name><name sortKey="Rothwell, John C" sort="Rothwell, John C" uniqKey="Rothwell J" first="John C." last="Rothwell">John C. Rothwell</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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