Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases
Identifieur interne : 000E36 ( Istex/Corpus ); précédent : 000E35; suivant : 000E37Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases
Auteurs : Gloria Maccabelli ; Anna Pichiecchio ; Andrea Guala ; Michela Ponzio ; Fulvia Palesi ; Diego Maranzana Rt ; Guy Umberto Poloni ; Stefano Bastianello ; Cesare DanesinoSource :
- Movement Disorders [ 0885-3185 ] ; 2010-11-15.
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. © 2010 Movement Disorder Society.
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DOI: 10.1002/mds.23281
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<front><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. © 2010 Movement Disorder Society.</div>
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<correspondenceTo>Neuroradiology Unit, Neurological Institute IRCCS C.Mondino Foundation, Pavia, 27100, Italy</correspondenceTo>
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<titleGroup><title type="main" xml:lang="en">Advanced magnetic resonance imaging in benign hereditary chorea: Study of two familial cases</title>
<title type="short" xml:lang="en">MR Advanced Techniques in Two Patients of BHC</title>
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<creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Gloria</givenNames>
<familyName>Maccabelli</familyName>
<degrees>MD</degrees>
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<contactDetails><email>gloria.maccabelli@mondino.it</email>
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<creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Anna</givenNames>
<familyName>Pichiecchio</familyName>
<degrees>MD</degrees>
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<creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Andrea</givenNames>
<familyName>Guala</familyName>
<degrees>MD</degrees>
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<creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Michela</givenNames>
<familyName>Ponzio</familyName>
<degrees>PhD</degrees>
</personName>
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<creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Fulvia</givenNames>
<familyName>Palesi</familyName>
<degrees>PhD</degrees>
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<creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Diego</givenNames>
<familyName>Maranzana, RT</familyName>
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<creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Guy Umberto</givenNames>
<familyName>Poloni</familyName>
<degrees>PhD</degrees>
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<creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Stefano</givenNames>
<familyName>Bastianello</familyName>
<degrees>MD, PhD</degrees>
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<creator xml:id="au9" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Cesare</givenNames>
<familyName>Danesino</familyName>
<degrees>MD, PhD</degrees>
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<affiliation xml:id="af2" countryCode="IT" type="organization"><unparsedAffiliation>Pediatric Department, SOC Castelli Hospital, Verbania, Italy</unparsedAffiliation>
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<affiliation xml:id="af3" countryCode="IT" type="organization"><unparsedAffiliation>Department of Health Sciences, Unit of Medical Statistics and Epidemiology, University of Pavia, Pavia, Italy</unparsedAffiliation>
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<affiliation xml:id="af4" countryCode="IT" type="organization"><unparsedAffiliation>Medical Genetic Department, S. Matteo IRCCS Foundation, University of Pavia, Pavia, Italy</unparsedAffiliation>
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<keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">benign hereditary chorea</keyword>
<keyword xml:id="kwd2">MRI</keyword>
<keyword xml:id="kwd3">spectroscopy</keyword>
<keyword xml:id="kwd4">diffusion tensor imaging</keyword>
<keyword xml:id="kwd5">basal ganglia</keyword>
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<abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title>
<p>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 <i>N</i>
‐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. © 2010 Movement Disorder Society.</p>
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<noteGroup><note xml:id="fn3" numbered="no"><p>Potential conflict of interest: The authors reported no conflicts of interest or funding sources.</p>
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<abstract 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. © 2010 Movement Disorder Society.</abstract>
<subject lang="en"><genre>Keywords</genre>
<topic>benign hereditary chorea</topic>
<topic>MRI</topic>
<topic>spectroscopy</topic>
<topic>diffusion tensor imaging</topic>
<topic>basal ganglia</topic>
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<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part><date>2010</date>
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<number>25</number>
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