Decreased Cortical Inhibition and Yet Cerebellar Pathology in 'Familial Cortical Myoclonic Tremor with Epilepsy'
Identifieur interne : 001725 ( PascalFrancis/Checkpoint ); précédent : 001724; suivant : 001726Decreased 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.
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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.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Decreased Cortical Inhibition and Yet Cerebellar Pathology in 'Familial Cortical Myoclonic Tremor with Epilepsy'</title><author><name sortKey="Van Rootselaar, Anne Fleur" sort="Van Rootselaar, Anne Fleur" uniqKey="Van Rootselaar A" first="Anne-Fleur" last="Van Rootselaar">Anne-Fleur Van Rootselaar</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology and Clinical Neurophysiology, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><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. 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Bour</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology and Clinical Neurophysiology, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="03"><s1>Department of (Neuro)pathology Academic Medical Centre, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Rozemuller Kwakkel, Johanna M" sort="Rozemuller Kwakkel, Johanna M" uniqKey="Rozemuller Kwakkel J" first="Johanna M." last="Rozemuller-Kwakkel">Johanna M. Rozemuller-Kwakkel</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of (Neuro)pathology Academic Medical Centre, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of (Neuro)pathology, VU Medical Center</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="05"><s1>Department of Neurology, Atrium</s1><s2>Heerlen</s2><s3>NLD</s3><sZ>8 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="01"><s1>Department of Neurology and Clinical Neurophysiology, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="01"><s1>Department of Neurology and Clinical Neurophysiology, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0147845</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 08-0147845 INIST</idno><idno type="RBID">Pascal:08-0147845</idno><idno type="wicri:Area/PascalFrancis/Corpus">001355</idno><idno type="wicri:Area/PascalFrancis/Curation">001964</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001725</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Decreased Cortical Inhibition and Yet Cerebellar Pathology in 'Familial Cortical Myoclonic Tremor with Epilepsy'</title><author><name sortKey="Van Rootselaar, Anne Fleur" sort="Van Rootselaar, Anne Fleur" uniqKey="Van Rootselaar A" first="Anne-Fleur" last="Van Rootselaar">Anne-Fleur Van Rootselaar</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology and Clinical Neurophysiology, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><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><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology and Clinical Neurophysiology, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="01"><s1>Department of Neurology and Clinical Neurophysiology, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="03"><s1>Department of (Neuro)pathology Academic Medical Centre, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Rozemuller Kwakkel, Johanna M" sort="Rozemuller Kwakkel, Johanna M" uniqKey="Rozemuller Kwakkel J" first="Johanna M." last="Rozemuller-Kwakkel">Johanna M. Rozemuller-Kwakkel</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of (Neuro)pathology Academic Medical Centre, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of (Neuro)pathology, VU Medical Center</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>7 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="05"><s1>Department of Neurology, Atrium</s1><s2>Heerlen</s2><s3>NLD</s3><sZ>8 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="01"><s1>Department of Neurology and Clinical Neurophysiology, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="01"><s1>Department of Neurology and Clinical Neurophysiology, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></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="2007">2007</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>Anatomic pathology</term><term>Cerebellum</term><term>Epilepsy</term><term>Myoclonus</term><term>Nervous system diseases</term><term>Nystagmus</term><term>Tremor</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Tremblement</term><term>Epilepsie</term><term>Myoclonie</term><term>Nystagmus</term><term>Pathologie du système nerveux</term><term>Cervelet</term><term>Anatomopathologie</term></keywords></textClass></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 GABA<sub>A</sub>-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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>22</s2></fA05><fA06><s2>16</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Decreased Cortical Inhibition and Yet Cerebellar Pathology in 'Familial Cortical Myoclonic Tremor with Epilepsy'</s1></fA08><fA11 i1="01" i2="1"><s1>VAN ROOTSELAAR (Anne-Fleur)</s1></fA11><fA11 i1="02" i2="1"><s1>VAN DER SALM (Sandra M. A.)</s1></fA11><fA11 i1="03" i2="1"><s1>BOUR (Lo J.)</s1></fA11><fA11 i1="04" i2="1"><s1>EDWARDS (Mark J.)</s1></fA11><fA11 i1="05" i2="1"><s1>BROWN (Peter)</s1></fA11><fA11 i1="06" i2="1"><s1>ARONICA (Eleonora)</s1></fA11><fA11 i1="07" i2="1"><s1>ROZEMULLER-KWAKKEL (Johanna M.)</s1></fA11><fA11 i1="08" i2="1"><s1>KOEHLER (Peter J.)</s1></fA11><fA11 i1="09" i2="1"><s1>KOELMAN (Johannes H. T. M.)</s1></fA11><fA11 i1="10" i2="1"><s1>ROTHWELL (John C.)</s1></fA11><fA11 i1="11" i2="1"><s1>TIJSSEN (Marina A. J.)</s1></fA11><fA14 i1="01"><s1>Department of Neurology and Clinical Neurophysiology, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></fA14><fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="03"><s1>Department of (Neuro)pathology Academic Medical Centre, University of Amsterdam</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></fA14><fA14 i1="04"><s1>Department of (Neuro)pathology, VU Medical Center</s1><s2>Amsterdam</s2><s3>NLD</s3><sZ>7 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neurology, Atrium</s1><s2>Heerlen</s2><s3>NLD</s3><sZ>8 aut.</sZ></fA14><fA20><s1>2378-2385</s1></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000162715700120</s5></fA43><fA44><s0>0000</s0><s1>© 2008 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>37 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>08-0147845</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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 GABA<sub>A</sub>-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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Tremblement</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Tremor</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Temblor</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Epilepsie</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Epilepsy</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Epilepsia</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Myoclonie</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Myoclonus</s0><s5>03</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Mioclonia</s0><s5>03</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Nystagmus</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Nystagmus</s0><s5>04</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Nistagmo</s0><s5>04</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>05</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>05</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Cervelet</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Cerebellum</s0><s5>09</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Cerebelo</s0><s5>09</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Anatomopathologie</s0><s5>10</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Anatomic pathology</s0><s5>10</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Anatomía patológica</s0><s5>10</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Encéphale</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Encephalon</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux central</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Central nervous system</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervioso central</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>43</s5></fC07><fC07 i1="07" i2="X" l="FRE"><s0>Syndrome oculomoteur</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="ENG"><s0>Oculomotor syndrome</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="SPA"><s0>Oculomotricidad síndrome</s0><s5>44</s5></fC07><fC07 i1="08" i2="X" l="FRE"><s0>Pathologie de l'oeil</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="ENG"><s0>Eye disease</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="SPA"><s0>Ojo patología</s0><s5>45</s5></fC07><fN21><s1>091</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><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 Fleur" sort="Van Rootselaar, Anne Fleur" 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 Kwakkel, Johanna M" sort="Rozemuller Kwakkel, Johanna M" uniqKey="Rozemuller Kwakkel J" first="Johanna M." last="Rozemuller-Kwakkel">Johanna M. Rozemuller-Kwakkel</name><name sortKey="Rozemuller Kwakkel, Johanna M" sort="Rozemuller Kwakkel, Johanna M" uniqKey="Rozemuller Kwakkel 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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