Rhythmic cortical myoclonus in niemann-pick disease type C
Identifieur interne : 001911 ( PascalFrancis/Checkpoint ); précédent : 001910; suivant : 001912Rhythmic 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.
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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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<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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<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>
<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="Canafoglia, Laura" sort="Canafoglia, Laura" uniqKey="Canafoglia L" first="Laura" last="Canafoglia">Laura Canafoglia</name>
</region>
<name sortKey="Avanzini, Giuliano" sort="Avanzini, Giuliano" uniqKey="Avanzini G" first="Giuliano" last="Avanzini">Giuliano Avanzini</name>
<name sortKey="Bernardina, Bernardo Dalla" sort="Bernardina, Bernardo Dalla" uniqKey="Bernardina B" first="Bernardo Dalla" last="Bernardina">Bernardo Dalla Bernardina</name>
<name sortKey="Bugiani, Marianna" sort="Bugiani, Marianna" uniqKey="Bugiani M" first="Marianna" last="Bugiani">Marianna Bugiani</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="Panzica, Ferruccio" sort="Panzica, Ferruccio" uniqKey="Panzica F" first="Ferruccio" last="Panzica">Ferruccio Panzica</name>
<name sortKey="Scaioli, Vidmer" sort="Scaioli, Vidmer" uniqKey="Scaioli V" first="Vidmer" last="Scaioli">Vidmer Scaioli</name>
<name sortKey="Uziel, Graziella" sort="Uziel, Graziella" uniqKey="Uziel G" first="Graziella" last="Uziel">Graziella Uziel</name>
</country>
</tree>
</affiliations>
</record>
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