Movement Disorders (revue)

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

Identifieur interne : 002517 ( PascalFrancis/Curation ); précédent : 002516; suivant : 002518

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.
pA  
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A03   1    @0 Mov. disord.
A05       @2 25
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A08 01  1  ENG  @1 Advanced Magnetic Resonance Imaging in Benign Hereditary Chorea: Study of Two Familial Cases
A11 01  1    @1 MACCABELLI (Gloria)
A11 02  1    @1 PICHIECCHIO (Anna)
A11 03  1    @1 GUALA (Andrea)
A11 04  1    @1 PONZIO (Michela)
A11 05  1    @1 PALESI (Fulvia)
A11 06  1    @1 MARANZANA (Diego)
A11 07  1    @1 POLONI (Guy Umberto)
A11 08  1    @1 BASTIANELLO (Stefano)
A11 09  1    @1 DANESINO (Cesare)
A14 01      @1 Neuroradiology Unit, Neurological Institute IRCCS "C. Mondino" Foundation @2 Pavia @3 ITA @Z 1 aut. @Z 2 aut. @Z 5 aut. @Z 6 aut. @Z 7 aut. @Z 8 aut.
A14 02      @1 Pediatric Department, SOC Castelli Hospital @2 Verbania @3 ITA @Z 3 aut.
A14 03      @1 Department of Health Sciences, Unit of Medical Statistics and Epidemiology, University of Pavia @2 Pavia @3 ITA @Z 4 aut.
A14 04      @1 Medical Genetic Department, S. Matteo IRCCS Foundation, University of Pavia @2 Pavia @3 ITA @Z 9 aut.
A20       @1 2670-2674
A21       @1 2010
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C01 01    ENG  @0 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.
C02 01  X    @0 002B17
C02 02  X    @0 002B24A06
C03 01  X  FRE  @0 Syndrome choréique @5 01
C03 01  X  ENG  @0 Chorea @5 01
C03 01  X  SPA  @0 Corea síndrome @5 01
C03 02  X  FRE  @0 Pathologie du système nerveux @5 02
C03 02  X  ENG  @0 Nervous system diseases @5 02
C03 02  X  SPA  @0 Sistema nervioso patología @5 02
C03 03  X  FRE  @0 Imagerie RMN @5 09
C03 03  X  ENG  @0 Nuclear magnetic resonance imaging @5 09
C03 03  X  SPA  @0 Imaginería RMN @5 09
C03 04  X  FRE  @0 Etude cas @5 10
C03 04  X  ENG  @0 Case study @5 10
C03 04  X  SPA  @0 Estudio caso @5 10
C03 05  X  FRE  @0 Spectrométrie @5 11
C03 05  X  ENG  @0 Spectrometry @5 11
C03 05  X  SPA  @0 Espectrometría @5 11
C03 06  X  FRE  @0 Imagerie du tenseur de diffusion @5 12
C03 06  X  ENG  @0 Diffusion tensor imaging @5 12
C03 06  X  SPA  @0 Imágen de tensor de difusión @5 12
C03 07  X  FRE  @0 Noyau gris central @5 13
C03 07  X  ENG  @0 Basal ganglion @5 13
C03 07  X  SPA  @0 Núcleo basal @5 13
C07 01  X  FRE  @0 Pathologie de l'encéphale @5 37
C07 01  X  ENG  @0 Cerebral disorder @5 37
C07 01  X  SPA  @0 Encéfalo patología @5 37
C07 02  X  FRE  @0 Syndrome extrapyramidal @5 38
C07 02  X  ENG  @0 Extrapyramidal syndrome @5 38
C07 02  X  SPA  @0 Extrapiramidal síndrome @5 38
C07 03  X  FRE  @0 Mouvement involontaire @5 39
C07 03  X  ENG  @0 Involuntary movement @5 39
C07 03  X  SPA  @0 Movimiento involuntario @5 39
C07 04  X  FRE  @0 Pathologie du système nerveux central @5 40
C07 04  X  ENG  @0 Central nervous system disease @5 40
C07 04  X  SPA  @0 Sistema nervosio central patología @5 40
C07 05  X  FRE  @0 Trouble neurologique @5 42
C07 05  X  ENG  @0 Neurological disorder @5 42
C07 05  X  SPA  @0 Trastorno neurológico @5 42
C07 06  X  FRE  @0 Encéphale @5 43
C07 06  X  ENG  @0 Encephalon @5 43
C07 06  X  SPA  @0 Encéfalo @5 43
C07 07  X  FRE  @0 Système nerveux central @5 44
C07 07  X  ENG  @0 Central nervous system @5 44
C07 07  X  SPA  @0 Sistema nervioso central @5 44
N21       @1 347
N44 01      @1 OTO
N82       @1 OTO

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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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<fA14 i1="03">
<s1>Department of Health Sciences, Unit of Medical Statistics and Epidemiology, University of Pavia</s1>
<s2>Pavia</s2>
<s3>ITA</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="04">
<s1>Medical Genetic Department, S. Matteo IRCCS Foundation, University of Pavia</s1>
<s2>Pavia</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA20>
<s1>2670-2674</s1>
</fA20>
<fA21>
<s1>2010</s1>
</fA21>
<fA23 i1="01">
<s0>ENG</s0>
</fA23>
<fA43 i1="01">
<s1>INIST</s1>
<s2>20953</s2>
<s5>354000191411680290</s5>
</fA43>
<fA44>
<s0>0000</s0>
<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45>
<s0>28 ref.</s0>
</fA45>
<fA47 i1="01" i2="1">
<s0>10-0512945</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>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.</s0>
</fC01>
<fC02 i1="01" i2="X">
<s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X">
<s0>002B24A06</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE">
<s0>Syndrome choréique</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG">
<s0>Chorea</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA">
<s0>Corea síndrome</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE">
<s0>Pathologie du système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG">
<s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA">
<s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE">
<s0>Imagerie RMN</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG">
<s0>Nuclear magnetic resonance imaging</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA">
<s0>Imaginería RMN</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE">
<s0>Etude cas</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG">
<s0>Case study</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA">
<s0>Estudio caso</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE">
<s0>Spectrométrie</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG">
<s0>Spectrometry</s0>
<s5>11</s5>
</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>
</record>

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