Rhythmic cortical myoclonus in Niemann–Pick disease type C
Identifieur interne : 004513 ( Main/Merge ); précédent : 004512; suivant : 004514Rhythmic cortical myoclonus in Niemann–Pick disease type C
Auteurs : Laura Canafoglia [Italie] ; Marianna Bugiani [Italie] ; Graziella Uziel [Italie] ; Bernardo Dalla Bernardina [Italie] ; Claudia Ciano [Italie] ; Vidmer Scaioli [Italie] ; Giuliano Avanzini [Italie] ; Silvana Franceschetti [Italie] ; Ferruccio Panzica [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
English descriptors
- KwdEn :
- Adolescent, Alpha Rhythm, Beta Rhythm, Cerebral Cortex (physiopathology), Consanguinity, Dominance, Cerebral (physiology), EEG–EMG coherence, Electroencephalography, Electromyography, Epilepsies, Myoclonic (diagnosis), Epilepsies, Myoclonic (genetics), Epilepsies, Myoclonic (physiopathology), Epilepsy, Generalized (diagnosis), Epilepsy, Generalized (genetics), Epilepsy, Generalized (physiopathology), Female, Fourier Analysis, Humans, Muscle, Skeletal (innervation), Niemann-Pick Disease, Type C (diagnosis), Niemann-Pick Disease, Type C (genetics), Niemann-Pick Disease, Type C (physiopathology), PME, Photic Stimulation, Pyramidal Tracts (physiopathology), Reaction Time (physiology), Signal Processing, Computer-Assisted, action myoclonus, lipid storage.
- MESH :
- diagnosis : Epilepsies, Myoclonic, Epilepsy, Generalized, Niemann-Pick Disease, Type C.
- genetics : Epilepsies, Myoclonic, Epilepsy, Generalized, Niemann-Pick Disease, Type C.
- innervation : Muscle, Skeletal.
- physiology : Dominance, Cerebral, Reaction Time.
- physiopathology : Cerebral Cortex, Epilepsies, Myoclonic, Epilepsy, Generalized, Niemann-Pick Disease, Type C, Pyramidal Tracts.
- Adolescent, Alpha Rhythm, Beta Rhythm, Consanguinity, Electroencephalography, Electromyography, Female, Fourier Analysis, Humans, Photic Stimulation, Signal Processing, Computer-Assisted.
Abstract
We here describe a patient with late‐infantile Niemann–Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) –polymyographic examinations showed abnormally high and diffuse background alpha‐activity, enhanced by intermittent photic stimulation. The electromyographic (EMG) showed quasirhythmic myoclonic jerks during motor activation. EEG–EMG frequency analysis (better than jerk‐locked back‐averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.20984
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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="2006-09">2006-09</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1453">1453</biblScope><biblScope unit="page" to="1456">1456</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3B185E5AAD6E5D2804F25257C7A71488C47F3A32</idno><idno type="DOI">10.1002/mds.20984</idno><idno type="ArticleID">MDS20984</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Alpha Rhythm</term><term>Beta Rhythm</term><term>Cerebral Cortex (physiopathology)</term><term>Consanguinity</term><term>Dominance, Cerebral (physiology)</term><term>EEG–EMG coherence</term><term>Electroencephalography</term><term>Electromyography</term><term>Epilepsies, Myoclonic (diagnosis)</term><term>Epilepsies, Myoclonic (genetics)</term><term>Epilepsies, Myoclonic (physiopathology)</term><term>Epilepsy, Generalized (diagnosis)</term><term>Epilepsy, Generalized (genetics)</term><term>Epilepsy, Generalized (physiopathology)</term><term>Female</term><term>Fourier Analysis</term><term>Humans</term><term>Muscle, Skeletal (innervation)</term><term>Niemann-Pick Disease, Type C (diagnosis)</term><term>Niemann-Pick Disease, Type C (genetics)</term><term>Niemann-Pick Disease, Type C (physiopathology)</term><term>PME</term><term>Photic Stimulation</term><term>Pyramidal Tracts (physiopathology)</term><term>Reaction Time (physiology)</term><term>Signal Processing, Computer-Assisted</term><term>action myoclonus</term><term>lipid storage</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Epilepsies, Myoclonic</term><term>Epilepsy, Generalized</term><term>Niemann-Pick Disease, Type C</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsies, Myoclonic</term><term>Epilepsy, Generalized</term><term>Niemann-Pick Disease, Type C</term></keywords><keywords scheme="MESH" qualifier="innervation" xml:lang="en"><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Dominance, Cerebral</term><term>Reaction Time</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cerebral Cortex</term><term>Epilepsies, Myoclonic</term><term>Epilepsy, Generalized</term><term>Niemann-Pick Disease, Type C</term><term>Pyramidal Tracts</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Alpha Rhythm</term><term>Beta Rhythm</term><term>Consanguinity</term><term>Electroencephalography</term><term>Electromyography</term><term>Female</term><term>Fourier Analysis</term><term>Humans</term><term>Photic Stimulation</term><term>Signal Processing, Computer-Assisted</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We here describe a patient with late‐infantile Niemann–Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) –polymyographic examinations showed abnormally high and diffuse background alpha‐activity, enhanced by intermittent photic stimulation. The electromyographic (EMG) showed quasirhythmic myoclonic jerks during motor activation. EEG–EMG frequency analysis (better than jerk‐locked back‐averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC. © 2006 Movement Disorder Society</div></front></TEI><double doi="10.1002/mds.20984"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rhythmic cortical myoclonus in Niemann–Pick disease type C</title><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name></author><author><name sortKey="Bugiani, Marianna" sort="Bugiani, Marianna" uniqKey="Bugiani M" first="Marianna" last="Bugiani">Marianna Bugiani</name></author><author><name sortKey="Uziel, Graziella" sort="Uziel, Graziella" uniqKey="Uziel G" first="Graziella" last="Uziel">Graziella Uziel</name></author><author><name sortKey="Dalla Bernardina, Bernardo" sort="Dalla Bernardina, Bernardo" uniqKey="Dalla Bernardina B" first="Bernardo" last="Dalla Bernardina">Bernardo Dalla Bernardina</name></author><author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name></author><author><name sortKey="Scaioli, Vidmer" sort="Scaioli, Vidmer" uniqKey="Scaioli V" first="Vidmer" last="Scaioli">Vidmer Scaioli</name></author><author><name sortKey="Avanzini, Giuliano" sort="Avanzini, Giuliano" uniqKey="Avanzini G" first="Giuliano" last="Avanzini">Giuliano Avanzini</name></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name></author><author><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:3B185E5AAD6E5D2804F25257C7A71488C47F3A32</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1002/mds.20984</idno><idno type="url">https://api.istex.fr/document/3B185E5AAD6E5D2804F25257C7A71488C47F3A32/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003603</idno><idno type="wicri:Area/Istex/Curation">003603</idno><idno type="wicri:Area/Istex/Checkpoint">001C59</idno><idno type="wicri:doubleKey">0885-3185:2006:Canafoglia L:rhythmic:cortical:myoclonus</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Rhythmic cortical myoclonus in Niemann–Pick disease type C</title><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology and Epileptology, Carlo Besta National Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Bugiani, Marianna" sort="Bugiani, Marianna" uniqKey="Bugiani M" first="Marianna" last="Bugiani">Marianna Bugiani</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology, Carlo Besta National Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Uziel, Graziella" sort="Uziel, Graziella" uniqKey="Uziel G" first="Graziella" last="Uziel">Graziella Uziel</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology, Carlo Besta National Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Dalla Bernardina, Bernardo" sort="Dalla Bernardina, Bernardo" uniqKey="Dalla Bernardina B" first="Bernardo" last="Dalla Bernardina">Bernardo Dalla Bernardina</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Child Neurology, University of Verona, Verona</wicri:regionArea><wicri:noRegion>Verona</wicri:noRegion></affiliation></author><author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology and Epileptology, Carlo Besta National 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 Neurophysiology and Epileptology, Carlo Besta National Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Avanzini, Giuliano" sort="Avanzini, Giuliano" uniqKey="Avanzini G" first="Giuliano" last="Avanzini">Giuliano Avanzini</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology and Epileptology, Carlo Besta National 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 Neurophysiology and Epileptology, Carlo Besta National 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 Neurophysiology and Epileptology, Carlo Besta National 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="2006-09">2006-09</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1453">1453</biblScope><biblScope unit="page" to="1456">1456</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3B185E5AAD6E5D2804F25257C7A71488C47F3A32</idno><idno type="DOI">10.1002/mds.20984</idno><idno type="ArticleID">MDS20984</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>EEG–EMG coherence</term><term>PME</term><term>action myoclonus</term><term>lipid storage</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We here describe a patient with late‐infantile Niemann–Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) –polymyographic examinations showed abnormally high and diffuse background alpha‐activity, enhanced by intermittent photic stimulation. The electromyographic (EMG) showed quasirhythmic myoclonic jerks during motor activation. EEG–EMG frequency analysis (better than jerk‐locked back‐averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC. © 2006 Movement Disorder Society</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Rhythmic cortical myoclonus in Niemann-Pick disease type C.</title><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurophysiology and Epileptology, Carlo Besta National Neurological Institute, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology and Epileptology, Carlo Besta National Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Bugiani, Marianna" sort="Bugiani, Marianna" uniqKey="Bugiani M" first="Marianna" last="Bugiani">Marianna Bugiani</name></author><author><name sortKey="Uziel, Graziella" sort="Uziel, Graziella" uniqKey="Uziel G" first="Graziella" last="Uziel">Graziella Uziel</name></author><author><name sortKey="Dalla Bernardina, Bernardo" sort="Dalla Bernardina, Bernardo" uniqKey="Dalla Bernardina B" first="Bernardo" last="Dalla Bernardina">Bernardo Dalla Bernardina</name></author><author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name></author><author><name sortKey="Scaioli, Vidmer" sort="Scaioli, Vidmer" uniqKey="Scaioli V" first="Vidmer" last="Scaioli">Vidmer Scaioli</name></author><author><name sortKey="Avanzini, Giuliano" sort="Avanzini, Giuliano" uniqKey="Avanzini G" first="Giuliano" last="Avanzini">Giuliano Avanzini</name></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name></author><author><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20984</idno><idno type="RBID">pubmed:16755579</idno><idno type="pmid">16755579</idno><idno type="wicri:Area/PubMed/Corpus">002C16</idno><idno type="wicri:Area/PubMed/Curation">002C16</idno><idno type="wicri:Area/PubMed/Checkpoint">002B05</idno><idno type="wicri:Area/Ncbi/Merge">001718</idno><idno type="wicri:Area/Ncbi/Curation">001718</idno><idno type="wicri:Area/Ncbi/Checkpoint">001718</idno><idno type="wicri:doubleKey">0885-3185:2006:Canafoglia L:rhythmic:cortical:myoclonus</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Rhythmic cortical myoclonus in Niemann-Pick disease type C.</title><author><name sortKey="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurophysiology and Epileptology, Carlo Besta National Neurological Institute, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurophysiology and Epileptology, Carlo Besta National Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Bugiani, Marianna" sort="Bugiani, Marianna" uniqKey="Bugiani M" first="Marianna" last="Bugiani">Marianna Bugiani</name></author><author><name sortKey="Uziel, Graziella" sort="Uziel, Graziella" uniqKey="Uziel G" first="Graziella" last="Uziel">Graziella Uziel</name></author><author><name sortKey="Dalla Bernardina, Bernardo" sort="Dalla Bernardina, Bernardo" uniqKey="Dalla Bernardina B" first="Bernardo" last="Dalla Bernardina">Bernardo Dalla Bernardina</name></author><author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name></author><author><name sortKey="Scaioli, Vidmer" sort="Scaioli, Vidmer" uniqKey="Scaioli V" first="Vidmer" last="Scaioli">Vidmer Scaioli</name></author><author><name sortKey="Avanzini, Giuliano" sort="Avanzini, Giuliano" uniqKey="Avanzini G" first="Giuliano" last="Avanzini">Giuliano Avanzini</name></author><author><name sortKey="Franceschetti, Silvana" sort="Franceschetti, Silvana" uniqKey="Franceschetti S" first="Silvana" last="Franceschetti">Silvana Franceschetti</name></author><author><name sortKey="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</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="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Alpha Rhythm</term><term>Beta Rhythm</term><term>Cerebral Cortex (physiopathology)</term><term>Consanguinity</term><term>Dominance, Cerebral (physiology)</term><term>Electroencephalography</term><term>Electromyography</term><term>Epilepsies, Myoclonic (diagnosis)</term><term>Epilepsies, Myoclonic (genetics)</term><term>Epilepsies, Myoclonic (physiopathology)</term><term>Epilepsy, Generalized (diagnosis)</term><term>Epilepsy, Generalized (genetics)</term><term>Epilepsy, Generalized (physiopathology)</term><term>Female</term><term>Fourier Analysis</term><term>Humans</term><term>Muscle, Skeletal (innervation)</term><term>Niemann-Pick Disease, Type C (diagnosis)</term><term>Niemann-Pick Disease, Type C (genetics)</term><term>Niemann-Pick Disease, Type C (physiopathology)</term><term>Photic Stimulation</term><term>Pyramidal Tracts (physiopathology)</term><term>Reaction Time (physiology)</term><term>Signal Processing, Computer-Assisted</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Epilepsies, Myoclonic</term><term>Epilepsy, Generalized</term><term>Niemann-Pick Disease, Type C</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsies, Myoclonic</term><term>Epilepsy, Generalized</term><term>Niemann-Pick Disease, Type C</term></keywords><keywords scheme="MESH" qualifier="innervation" xml:lang="en"><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Dominance, Cerebral</term><term>Reaction Time</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Cerebral Cortex</term><term>Epilepsies, Myoclonic</term><term>Epilepsy, Generalized</term><term>Niemann-Pick Disease, Type C</term><term>Pyramidal Tracts</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Alpha Rhythm</term><term>Beta Rhythm</term><term>Consanguinity</term><term>Electroencephalography</term><term>Electromyography</term><term>Female</term><term>Fourier Analysis</term><term>Humans</term><term>Photic Stimulation</term><term>Signal Processing, Computer-Assisted</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We here describe a patient with late-infantile Niemann-Pick disease type C (NPC) presenting with worsening myoclonus, seizures, cerebellar symptoms, mild mental impairment, and gaze palsy. Electroencephalographic (EEG) -polymyographic examinations showed abnormally high and diffuse background alpha-activity, enhanced by intermittent photic stimulation. The electromyographic (EMG) showed quasirhythmic myoclonic jerks during motor activation. EEG-EMG frequency analysis (better than jerk-locked back-averaging) demonstrated the cortical origin of the myoclonus. Our observations indicate that cortical myoclonus may occur as the main symptom of NPC.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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