Movement Disorders (revue)

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Advanced Magnetic Resonance Imaging in Benign Hereditary Chorea: Study of Two Familial Cases

Identifieur interne : 000C15 ( PascalFrancis/Checkpoint ); précédent : 000C14; suivant : 000C16

Advanced Magnetic Resonance Imaging in Benign Hereditary Chorea: Study of Two Familial Cases

Auteurs : Gloria Maccabelli [Italie] ; Anna Pichiecchio [Italie] ; Andrea Guala [Italie] ; Michela Ponzio [Italie] ; Fulvia Palesi [Italie] ; Diego Maranzana [Italie] ; Guy Umberto Poloni [Italie] ; Stefano Bastianello [Italie] ; Cesare Danesino [Italie]

Source :

RBID : Pascal:10-0512945

Descripteurs français

English descriptors

Abstract

No brain abnormalities are usually detected on conventional magnetic resonance imaging (MRI) in benign hereditary chorea (BHC); there are currently no studies with advanced techniques in literature. We investigated whether conventional and advanced MRI techniques could depict regional brain abnormalities in two familial BHC patients and 24 healthy controls. No brain abnormalities on conventional scans were detectable; also, no significant differences in fractional anisotropy of the basal nuclei were observed. Volumetric analysis showed a decreased volume of the striatum bilaterally compared with controls, whereas spectroscopy demonstrated a significant increased myoinositol/creatine ratio bilaterally, a reduction of choline/creatine ratio bilaterally, and of N-acetyl-aspartate/creatine in the right putamen. With the limits of the small sample size in the patient group, these data show that, despite the absence of macroscopic changes on conventional MRI, volumetric and metabolic abnormalities are present in the basal nuclei of BHC patients.


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Pascal:10-0512945

Le document en format XML

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<div type="abstract" xml:lang="en">No brain abnormalities are usually detected on conventional magnetic resonance imaging (MRI) in benign hereditary chorea (BHC); there are currently no studies with advanced techniques in literature. We investigated whether conventional and advanced MRI techniques could depict regional brain abnormalities in two familial BHC patients and 24 healthy controls. No brain abnormalities on conventional scans were detectable; also, no significant differences in fractional anisotropy of the basal nuclei were observed. Volumetric analysis showed a decreased volume of the striatum bilaterally compared with controls, whereas spectroscopy demonstrated a significant increased myoinositol/creatine ratio bilaterally, a reduction of choline/creatine ratio bilaterally, and of N-acetyl-aspartate/creatine in the right putamen. With the limits of the small sample size in the patient group, these data show that, despite the absence of macroscopic changes on conventional MRI, volumetric and metabolic abnormalities are present in the basal nuclei of BHC patients.</div>
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</fC03>
<fC03 i1="05" i2="X" l="SPA">
<s0>Espectrometría</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE">
<s0>Imagerie du tenseur de diffusion</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG">
<s0>Diffusion tensor imaging</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA">
<s0>Imágen de tensor de difusión</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE">
<s0>Noyau gris central</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG">
<s0>Basal ganglion</s0>
<s5>13</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA">
<s0>Núcleo basal</s0>
<s5>13</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE">
<s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG">
<s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA">
<s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE">
<s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG">
<s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA">
<s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE">
<s0>Mouvement involontaire</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG">
<s0>Involuntary movement</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA">
<s0>Movimiento involuntario</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE">
<s0>Pathologie du système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG">
<s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA">
<s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE">
<s0>Trouble neurologique</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG">
<s0>Neurological disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA">
<s0>Trastorno neurológico</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE">
<s0>Encéphale</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG">
<s0>Encephalon</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA">
<s0>Encéfalo</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE">
<s0>Système nerveux central</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG">
<s0>Central nervous system</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA">
<s0>Sistema nervioso central</s0>
<s5>44</s5>
</fC07>
<fN21>
<s1>347</s1>
</fN21>
<fN44 i1="01">
<s1>OTO</s1>
</fN44>
<fN82>
<s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations>
<list>
<country>
<li>Italie</li>
</country>
</list>
<tree>
<country name="Italie">
<noRegion>
<name sortKey="Maccabelli, Gloria" sort="Maccabelli, Gloria" uniqKey="Maccabelli G" first="Gloria" last="Maccabelli">Gloria Maccabelli</name>
</noRegion>
<name sortKey="Bastianello, Stefano" sort="Bastianello, Stefano" uniqKey="Bastianello S" first="Stefano" last="Bastianello">Stefano Bastianello</name>
<name sortKey="Danesino, Cesare" sort="Danesino, Cesare" uniqKey="Danesino C" first="Cesare" last="Danesino">Cesare Danesino</name>
<name sortKey="Guala, Andrea" sort="Guala, Andrea" uniqKey="Guala A" first="Andrea" last="Guala">Andrea Guala</name>
<name sortKey="Maranzana, Diego" sort="Maranzana, Diego" uniqKey="Maranzana D" first="Diego" last="Maranzana">Diego Maranzana</name>
<name sortKey="Palesi, Fulvia" sort="Palesi, Fulvia" uniqKey="Palesi F" first="Fulvia" last="Palesi">Fulvia Palesi</name>
<name sortKey="Pichiecchio, Anna" sort="Pichiecchio, Anna" uniqKey="Pichiecchio A" first="Anna" last="Pichiecchio">Anna Pichiecchio</name>
<name sortKey="Poloni, Guy Umberto" sort="Poloni, Guy Umberto" uniqKey="Poloni G" first="Guy Umberto" last="Poloni">Guy Umberto Poloni</name>
<name sortKey="Ponzio, Michela" sort="Ponzio, Michela" uniqKey="Ponzio M" first="Michela" last="Ponzio">Michela Ponzio</name>
</country>
</tree>
</affiliations>
</record>

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