Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers
Identifieur interne : 001865 ( PascalFrancis/Corpus ); précédent : 001864; suivant : 001866Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers
Auteurs : Mark J. Edwards ; Ying-Zu Huang ; Pablo Mir ; John C. Rothwell ; Kailash P. BhatiaSource :
- Movement disorders [ 0885-3185 ] ; 2006.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
A mutation in the DYT1 gene causes dominantly inherited childhood-onset primary dystonia, but intriguingly, only 30 to 40% of those who carry the mutation ever develop symptoms. We have used the unique model provided by this group of patients to investigate the hypothesis that abnormalities in brain plasticity underlie the pathophysiology of primary dystonia. We recruited 8 DYT1 gene carriers with dystonia, 6 DYT1 gene carriers without dystonia, 6 patients with sporadic primary dystonia (torticollis), and 10 healthy control subjects. Groups were age-matched. We compared the effect in these groups of subjects of repetitive transcranial magnetic stimulation (rTMS) delivered to the motor cortex, by assessing changes in corticospinal excitability following rTMS. rTMS was given in the form of theta burst stimulation (TBS) using the inhibitory protocol "cTBS" (total of 300 pulses in 50-Hz bursts given every 5Hz). DYT1 gene carriers with dystonia and subjects with torticollis had a significantly prolonged response to rTMS in comparison with healthy subjects. In contrast, DYT1 gene carriers without dystonia had no significant response to rTMS. These data demonstrate an excessive response to an experimental "plasticity probing protocol" in subjects with dystonia, but a lack of response in genetically susceptible individuals who have not developed dystonia. These preliminary data suggest that the propensity to undergo plastic change may affect the development of symptoms in genetically susceptible individuals and that this may be an important mechanism in the pathogenesis of primary dystonia in general.
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Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 07-0090874 INIST |
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ET : | Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers |
AU : | EDWARDS (Mark J.); HUANG (Ying-Zu); MIR (Pablo); ROTHWELL (John C.); BHATIA (Kailash P.) |
AF : | Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square/London/Royaume-Uni (1 aut., 2 aut., 3 aut., 4 aut., 5 aut.); Department of Neurology, Chang Gung Memorial Hospital/Taipei/Taïwan (2 aut.); Servicio de Neurologia, Hospital Universitario Virgen del Rocío/Seville/Espagne (3 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 12; Pp. 2181-2186; Bibl. 24 ref. |
LA : | Anglais |
EA : | A mutation in the DYT1 gene causes dominantly inherited childhood-onset primary dystonia, but intriguingly, only 30 to 40% of those who carry the mutation ever develop symptoms. We have used the unique model provided by this group of patients to investigate the hypothesis that abnormalities in brain plasticity underlie the pathophysiology of primary dystonia. We recruited 8 DYT1 gene carriers with dystonia, 6 DYT1 gene carriers without dystonia, 6 patients with sporadic primary dystonia (torticollis), and 10 healthy control subjects. Groups were age-matched. We compared the effect in these groups of subjects of repetitive transcranial magnetic stimulation (rTMS) delivered to the motor cortex, by assessing changes in corticospinal excitability following rTMS. rTMS was given in the form of theta burst stimulation (TBS) using the inhibitory protocol "cTBS" (total of 300 pulses in 50-Hz bursts given every 5Hz). DYT1 gene carriers with dystonia and subjects with torticollis had a significantly prolonged response to rTMS in comparison with healthy subjects. In contrast, DYT1 gene carriers without dystonia had no significant response to rTMS. These data demonstrate an excessive response to an experimental "plasticity probing protocol" in subjects with dystonia, but a lack of response in genetically susceptible individuals who have not developed dystonia. These preliminary data suggest that the propensity to undergo plastic change may affect the development of symptoms in genetically susceptible individuals and that this may be an important mechanism in the pathogenesis of primary dystonia in general. |
CC : | 002B17; 002B17H; 002B19A01 |
FD : | Système nerveux pathologie; Dystonie; Plasticité; Porteur |
FG : | Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie |
ED : | Nervous system diseases; Dystonia; Plasticity; Carrier |
EG : | Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease |
SD : | Sistema nervioso patología; Distonía; Plasticidad; Portador |
LO : | INIST-20953.354000145356790240 |
ID : | 07-0090874 |
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Pascal:07-0090874Le document en format XML
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<front><div type="abstract" xml:lang="en">A mutation in the DYT1 gene causes dominantly inherited childhood-onset primary dystonia, but intriguingly, only 30 to 40% of those who carry the mutation ever develop symptoms. We have used the unique model provided by this group of patients to investigate the hypothesis that abnormalities in brain plasticity underlie the pathophysiology of primary dystonia. We recruited 8 DYT1 gene carriers with dystonia, 6 DYT1 gene carriers without dystonia, 6 patients with sporadic primary dystonia (torticollis), and 10 healthy control subjects. Groups were age-matched. We compared the effect in these groups of subjects of repetitive transcranial magnetic stimulation (rTMS) delivered to the motor cortex, by assessing changes in corticospinal excitability following rTMS. rTMS was given in the form of theta burst stimulation (TBS) using the inhibitory protocol "cTBS" (total of 300 pulses in 50-Hz bursts given every 5Hz). DYT1 gene carriers with dystonia and subjects with torticollis had a significantly prolonged response to rTMS in comparison with healthy subjects. In contrast, DYT1 gene carriers without dystonia had no significant response to rTMS. These data demonstrate an excessive response to an experimental "plasticity probing protocol" in subjects with dystonia, but a lack of response in genetically susceptible individuals who have not developed dystonia. These preliminary data suggest that the propensity to undergo plastic change may affect the development of symptoms in genetically susceptible individuals and that this may be an important mechanism in the pathogenesis of primary dystonia in general.</div>
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<server><NO>PASCAL 07-0090874 INIST</NO>
<ET>Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers</ET>
<AU>EDWARDS (Mark J.); HUANG (Ying-Zu); MIR (Pablo); ROTHWELL (John C.); BHATIA (Kailash P.)</AU>
<AF>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square/London/Royaume-Uni (1 aut., 2 aut., 3 aut., 4 aut., 5 aut.); Department of Neurology, Chang Gung Memorial Hospital/Taipei/Taïwan (2 aut.); Servicio de Neurologia, Hospital Universitario Virgen del Rocío/Seville/Espagne (3 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 12; Pp. 2181-2186; Bibl. 24 ref.</SO>
<LA>Anglais</LA>
<EA>A mutation in the DYT1 gene causes dominantly inherited childhood-onset primary dystonia, but intriguingly, only 30 to 40% of those who carry the mutation ever develop symptoms. We have used the unique model provided by this group of patients to investigate the hypothesis that abnormalities in brain plasticity underlie the pathophysiology of primary dystonia. We recruited 8 DYT1 gene carriers with dystonia, 6 DYT1 gene carriers without dystonia, 6 patients with sporadic primary dystonia (torticollis), and 10 healthy control subjects. Groups were age-matched. We compared the effect in these groups of subjects of repetitive transcranial magnetic stimulation (rTMS) delivered to the motor cortex, by assessing changes in corticospinal excitability following rTMS. rTMS was given in the form of theta burst stimulation (TBS) using the inhibitory protocol "cTBS" (total of 300 pulses in 50-Hz bursts given every 5Hz). DYT1 gene carriers with dystonia and subjects with torticollis had a significantly prolonged response to rTMS in comparison with healthy subjects. In contrast, DYT1 gene carriers without dystonia had no significant response to rTMS. These data demonstrate an excessive response to an experimental "plasticity probing protocol" in subjects with dystonia, but a lack of response in genetically susceptible individuals who have not developed dystonia. These preliminary data suggest that the propensity to undergo plastic change may affect the development of symptoms in genetically susceptible individuals and that this may be an important mechanism in the pathogenesis of primary dystonia in general.</EA>
<CC>002B17; 002B17H; 002B19A01</CC>
<FD>Système nerveux pathologie; Dystonie; Plasticité; Porteur</FD>
<FG>Extrapyramidal syndrome; Mouvement involontaire; Muscle strié pathologie; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Dystonia; Plasticity; Carrier</ED>
<EG>Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Distonía; Plasticidad; Portador</SD>
<LO>INIST-20953.354000145356790240</LO>
<ID>07-0090874</ID>
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