A neurophysiological study of myoclonus in patients with DYT11 myoclonus‐dystonia syndrome
Identifieur interne : 002A34 ( Main/Exploration ); précédent : 002A33; suivant : 002A35A neurophysiological study of myoclonus in patients with DYT11 myoclonus‐dystonia syndrome
Auteurs : Cecilia Marelli [Italie] ; Laura Canafoglia [Italie] ; Federica Zibordi [Italie] ; Claudia Ciano [Italie] ; Elisa Visani [Italie] ; Giovanna Zorzi [Italie] ; Barbara Garavaglia [Italie] ; Chiara Barzaghi [Italie] ; Alberto Albanese [Italie] ; Paola Soliveri [Italie] ; Massimo Leone [Italie] ; Ferruccio Panzica [Italie] ; Vidmer Scaioli [Italie] ; Alessandro Pincherle [Italie] ; Nardo Nardocci [Italie] ; Silvana Franceschetti [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-10-30.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Italie.
- topic : Enfant, Homme, Neurologie.
English descriptors
- KwdEn :
- Acoustic Stimulation (methods), Adolescent, Adult, Child, Dystonia, Dystonic Disorders (complications), Dystonic Disorders (genetics), ERD‐ERS analysis, Electric Stimulation (methods), Electroencephalography (methods), Electromyography (methods), Epilepsy, Evoked Potentials, Somatosensory (physiology), Evoked potential, Extrapyramidal syndrome, Female, Human, Humans, Italy, Male, Mutation, Myoclonus, Myoclonus (complications), Myoclonus (genetics), Nervous system diseases, Neural Conduction (physiology), Neurology, Neurophysiology (methods), Palpebral reflex, Reaction Time (physiology), Reflex (physiology), SGCE gene mutations, Sarcoglycans (genetics), Transcranial Magnetic Stimulation (methods), Transcranial magnetic stimulation, Young Adult, blink reflex, evoked potentials, myoclonus‐dystonia syndrome, transcranial magnetic stimulation.
- MESH :
- chemical , genetics : Sarcoglycans.
- complications : Dystonic Disorders, Myoclonus.
- genetics : Dystonic Disorders, Myoclonus.
- methods : Acoustic Stimulation, Electric Stimulation, Electroencephalography, Electromyography, Neurophysiology, Transcranial Magnetic Stimulation.
- physiology : Evoked Potentials, Somatosensory, Neural Conduction, Reaction Time, Reflex.
- Adolescent, Adult, Child, Female, Humans, Male, Mutation, Young Adult.
Abstract
Mutations in the ϵ‐sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus‐dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11‐MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 ± 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudo‐rhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a “startle‐like” muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long‐loop reflexes were normal, as was silent period and long‐term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short‐term intracortical inhibition revealed subtle impairment, and event‐related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11‐MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11‐MDS may justify the involvement of different brain areas. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22256
Affiliations:
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xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology, IRCCS Foundation, “Carlo Besta” Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Genetics, IRCCS Foundation, “Carlo Besta” Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Barzaghi, Chiara" sort="Barzaghi, Chiara" uniqKey="Barzaghi C" first="Chiara" last="Barzaghi">Chiara Barzaghi</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Genetics, 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Besta” Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Leone, Massimo" sort="Leone, Massimo" uniqKey="Leone M" first="Massimo" last="Leone">Massimo Leone</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Migraine Centre, IRCCS Foundation, “Carlo Besta” Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation, “Carlo Besta” Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Scaioli, Vidmer" sort="Scaioli, Vidmer" uniqKey="Scaioli V" first="Vidmer" last="Scaioli">Vidmer Scaioli</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation, “Carlo Besta” Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Pincherle, Alessandro" sort="Pincherle, Alessandro" uniqKey="Pincherle A" first="Alessandro" last="Pincherle">Alessandro Pincherle</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Sleep Centre, IRCCS Foundation, “Carlo Besta” Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology, IRCCS Foundation, “Carlo Besta” Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation, “Carlo Besta” Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2008-10-30">2008-10-30</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2041">2041</biblScope><biblScope unit="page" to="2048">2048</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">CA208609846B55AE60E263078BE49858FA2434BA</idno><idno type="DOI">10.1002/mds.22256</idno><idno type="ArticleID">MDS22256</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acoustic Stimulation (methods)</term><term>Adolescent</term><term>Adult</term><term>Child</term><term>Dystonia</term><term>Dystonic Disorders (complications)</term><term>Dystonic Disorders (genetics)</term><term>ERD‐ERS analysis</term><term>Electric Stimulation (methods)</term><term>Electroencephalography (methods)</term><term>Electromyography (methods)</term><term>Epilepsy</term><term>Evoked Potentials, Somatosensory (physiology)</term><term>Evoked potential</term><term>Extrapyramidal syndrome</term><term>Female</term><term>Human</term><term>Humans</term><term>Italy</term><term>Male</term><term>Mutation</term><term>Myoclonus</term><term>Myoclonus (complications)</term><term>Myoclonus (genetics)</term><term>Nervous system diseases</term><term>Neural Conduction (physiology)</term><term>Neurology</term><term>Neurophysiology (methods)</term><term>Palpebral reflex</term><term>Reaction Time (physiology)</term><term>Reflex (physiology)</term><term>SGCE gene mutations</term><term>Sarcoglycans (genetics)</term><term>Transcranial Magnetic Stimulation (methods)</term><term>Transcranial magnetic stimulation</term><term>Young Adult</term><term>blink reflex</term><term>evoked potentials</term><term>myoclonus‐dystonia syndrome</term><term>transcranial magnetic stimulation</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sarcoglycans</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Acoustic Stimulation</term><term>Electric Stimulation</term><term>Electroencephalography</term><term>Electromyography</term><term>Neurophysiology</term><term>Transcranial Magnetic Stimulation</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Evoked Potentials, Somatosensory</term><term>Neural Conduction</term><term>Reaction Time</term><term>Reflex</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Female</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Enfant</term><term>Epilepsie</term><term>Homme</term><term>Italie</term><term>Mutation</term><term>Myoclonie</term><term>Neurologie</term><term>Pathologie du système nerveux</term><term>Potentiel évoqué</term><term>Réflexe palpébral</term><term>Stimulation magnétique transcrânienne</term><term>Syndrome extrapyramidal</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Enfant</term><term>Homme</term><term>Neurologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the ϵ‐sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus‐dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11‐MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 ± 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudo‐rhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a “startle‐like” muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long‐loop reflexes were normal, as was silent period and long‐term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short‐term intracortical inhibition revealed subtle impairment, and event‐related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11‐MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11‐MDS may justify the involvement of different brain areas. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Lombardie</li></region><settlement><li>Milan</li></settlement></list><tree><country name="Italie"><region name="Lombardie"><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name></region><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><name sortKey="Barzaghi, Chiara" sort="Barzaghi, Chiara" uniqKey="Barzaghi C" first="Chiara" last="Barzaghi">Chiara Barzaghi</name><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><name sortKey="Leone, Massimo" sort="Leone, Massimo" uniqKey="Leone M" first="Massimo" last="Leone">Massimo Leone</name><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name><name sortKey="Pincherle, Alessandro" sort="Pincherle, Alessandro" uniqKey="Pincherle A" first="Alessandro" last="Pincherle">Alessandro Pincherle</name><name sortKey="Scaioli, Vidmer" sort="Scaioli, Vidmer" uniqKey="Scaioli V" first="Vidmer" last="Scaioli">Vidmer Scaioli</name><name sortKey="Soliveri, Paola" sort="Soliveri, Paola" uniqKey="Soliveri P" first="Paola" last="Soliveri">Paola Soliveri</name><name sortKey="Visani, Elisa" sort="Visani, Elisa" uniqKey="Visani E" first="Elisa" last="Visani">Elisa Visani</name><name sortKey="Zibordi, Federica" sort="Zibordi, Federica" uniqKey="Zibordi F" first="Federica" last="Zibordi">Federica Zibordi</name><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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