MovDisordV3, PascalFrancis, Curation, bibRecord, 001326

Rhythmic cortical myoclonus in niemann-pick disease type C

Identifieur interne : 001326 ( PascalFrancis/Curation ); précédent : 001325; suivant : 001327

Rhythmic 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.

RBID : Pascal:06-0518101

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Myoclonie, Sphingolipidose héréditaire Niemann Pick, Electroencéphalographie, Electromyographie, Cohérence, Lipide, Stockage.
Wicri :
- topic : Stockage.

English descriptors

KwdEn :
- Coherence, Electroencephalography, Electromyography, Lipids, Myoclonus, Nervous system diseases, Niemann Pick disease, Storage.

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.

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A11	`02`	`1`		`@1 BUGIANI (Marianna)`
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A14	`02`			`@1 Department of Child Neurology, Carlo Besta National Neurological Institute @2 Milan @3 ITA @Z 2 aut. @Z 3 aut.`
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C01	`01`		`ENG`	@0 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.
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Le document en format XML

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<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
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<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>
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<fA11 i1="06" i2="1"><s1>SCAIOLI (Vidmer)</s1>
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<fA11 i1="07" i2="1"><s1>AVANZINI (Giuliano)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>FRANCESCHETTI (Silvana)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>PANZICA (Ferruccio)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurophysiology and Epileptology, Carlo Besta National Neurological Institute</s1>
<s2>Milan</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Child Neurology, Carlo Besta National Neurological Institute</s1>
<s2>Milan</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Child Neurology, University of Verona</s1>
<s2>Verona</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA20><s1>1453-1456</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000158780860230</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2006 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>13 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>06-0518101</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</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>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17A03</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Myoclonie</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Myoclonus</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Mioclonia</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Sphingolipidose héréditaire Niemann Pick</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Niemann Pick disease</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Esfingolipidosis hereditaria Niemann Pick</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Electroencéphalographie</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Electroencephalography</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Electroencefalografía</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Electromyographie</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Electromyography</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Electromiografía</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Cohérence</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Coherence</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Coherencia</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Lipide</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Lipids</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Lípido</s0>
<s5>12</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Stockage</s0>
<s5>13</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Storage</s0>
<s5>13</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Almacenamiento</s0>
<s5>13</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Enzymopathie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Enzymopathy</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Enzimopatía</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Lipoïdose</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Lipoidosis</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Lipoidosis</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Métabolisme pathologie</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Metabolic diseases</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Metabolismo patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>44</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Electrophysiologie</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Electrophysiology</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Electrofisiología</s0>
<s5>45</s5>
</fC07>
<fN21><s1>338</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Rhythmic cortical myoclonus in niemann-pick disease type C

Rhythmic cortical myoclonus in niemann-pick disease type C

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