Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy'.
Identifieur interne : 001E43 ( Ncbi/Curation ); précédent : 001E42; suivant : 001E44Decreased 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 ; Lo J. Bour ; Mark J. Edwards ; Peter Brown ; Eleonora Aronica ; Johanna M. Rozemuller-Kwakkel ; Peter J. Koehler ; Johannes H T M. Koelman ; John C. Rothwell ; Marina A J. TijssenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Anticonvulsants (therapeutic use), Cerebellar Diseases (genetics), Cerebellar Diseases (pathology), Cerebellar Diseases (therapy), Cerebral Cortex (pathology), Cerebral Cortex (physiopathology), Electrophysiology, Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (pathology), Epilepsies, Myoclonic (therapy), Evoked Potentials, Motor (physiology), Eye Movements (physiology), Female, Humans, Male, Middle Aged, Nystagmus, Pathologic (etiology), Pedigree, Pursuit, Smooth (physiology), Saccades (physiology), Transcranial Magnetic Stimulation, Tremor (pathology), Tremor (physiopathology).
- 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 GABA(A)-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.
DOI: 10.1002/mds.21738
PubMed: 17894334
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002516
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :002516
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002884
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001E43
Links to Exploration step
pubmed:17894334Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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"><nlm:affiliation>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam, the Netherlands. a.f.vanrootselaar@amc.uva.nl</nlm: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><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></author><author><name sortKey="Bour, Lo J" sort="Bour, Lo J" uniqKey="Bour L" first="Lo J" last="Bour">Lo J. Bour</name></author><author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J" last="Edwards">Mark J. Edwards</name></author><author><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name></author><author><name sortKey="Aronica, Eleonora" sort="Aronica, Eleonora" uniqKey="Aronica E" first="Eleonora" last="Aronica">Eleonora Aronica</name></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></author><author><name sortKey="Koehler, Peter J" sort="Koehler, Peter J" uniqKey="Koehler P" first="Peter J" last="Koehler">Peter J. Koehler</name></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></author><author><name sortKey="Rothwell, John C" sort="Rothwell, John C" uniqKey="Rothwell J" first="John C" last="Rothwell">John C. Rothwell</name></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></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21738</idno><idno type="RBID">pubmed:17894334</idno><idno type="pmid">17894334</idno><idno type="wicri:Area/PubMed/Corpus">002516</idno><idno type="wicri:Area/PubMed/Curation">002516</idno><idno type="wicri:Area/PubMed/Checkpoint">002884</idno><idno type="wicri:Area/Ncbi/Merge">001E43</idno><idno type="wicri:Area/Ncbi/Curation">001E43</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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"><nlm:affiliation>Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam, the Netherlands. a.f.vanrootselaar@amc.uva.nl</nlm: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><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></author><author><name sortKey="Bour, Lo J" sort="Bour, Lo J" uniqKey="Bour L" first="Lo J" last="Bour">Lo J. Bour</name></author><author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J" last="Edwards">Mark J. Edwards</name></author><author><name sortKey="Brown, Peter" sort="Brown, Peter" uniqKey="Brown P" first="Peter" last="Brown">Peter Brown</name></author><author><name sortKey="Aronica, Eleonora" sort="Aronica, Eleonora" uniqKey="Aronica E" first="Eleonora" last="Aronica">Eleonora Aronica</name></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></author><author><name sortKey="Koehler, Peter J" sort="Koehler, Peter J" uniqKey="Koehler P" first="Peter J" last="Koehler">Peter J. Koehler</name></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></author><author><name sortKey="Rothwell, John C" sort="Rothwell, John C" uniqKey="Rothwell J" first="John C" last="Rothwell">John C. Rothwell</name></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></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Anticonvulsants (therapeutic use)</term><term>Cerebellar Diseases (genetics)</term><term>Cerebellar Diseases (pathology)</term><term>Cerebellar Diseases (therapy)</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>Evoked Potentials, Motor (physiology)</term><term>Eye Movements (physiology)</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</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 (pathology)</term><term>Tremor (physiopathology)</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></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(A)-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></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001E43 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 001E43 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Curation
|type= RBID
|clé= pubmed:17894334
|texte= Decreased cortical inhibition and yet cerebellar pathology in 'familial cortical myoclonic tremor with epilepsy'.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:17894334" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |