Decreased cortical inhibition and yet cerebellar pathology in ‘familial cortical myoclonic tremor with epilepsy’
Identifieur interne : 001523 ( Istex/Curation ); précédent : 001522; suivant : 001524Decreased 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.
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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
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DOI: 10.1002/mds.21738
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A." last="Van Der Salm">Sandra M. A. Van Der Salm</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam, the Netherlands</mods:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam, the Netherlands</mods:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam</wicri:regionArea></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="1"><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom</mods:affiliation><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></affiliation></author><author><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name><affiliation wicri:level="1"><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom</mods:affiliation><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></affiliation></author><author><name sortKey="Aronica, Eleonora" sort="Aronica, Eleonora" uniqKey="Aronica E" first="Eleonora" last="Aronica">Eleonora Aronica</name><affiliation wicri:level="1"><mods:affiliation>Department of (Neuro)pathology Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands</mods:affiliation><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></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="1"><mods:affiliation>Department of (Neuro)pathology Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands</mods:affiliation><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></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of (Neuro)pathology, VU Medical Center, Amsterdam, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of (Neuro)pathology, VU Medical Center, Amsterdam</wicri:regionArea></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"><mods:affiliation>Department of Neurology, Atrium, Heerlen, the Netherlands</mods:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Atrium, Heerlen</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam, the Netherlands</mods:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam</wicri:regionArea></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="1"><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom</mods:affiliation><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></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="1"><mods:affiliation>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam, the Netherlands</mods:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam</wicri:regionArea></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>cerebellar Purkinje cell</term><term>cortical myoclonus</term><term>downbeat nystagmus</term><term>epilepsy</term><term>intracortical inhibition</term><term>tremor</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></record>Pour manipuler ce document sous Unix (Dilib)
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