Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)
Identifieur interne : 001D78 ( Istex/Corpus ); précédent : 001D77; suivant : 001D79Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)
Auteurs : Fabienne Ory-Magne ; Christine Brefel-Courbon ; Pierre Payoux ; Sabrina Debruxelles ; Igor Sibon ; Cyril Goizet ; Pierre Labauge ; Patrice Menegon ; Emmanuelle Uro-Coste ; Bernardino Ghetti ; Marie Bernadetle Delisle ; Ruben Vidal ; Olivier RascolSource :
- Movement Disorders [ 0885-3185 ] ; 2009-08-15.
English descriptors
Abstract
To describe a family with a hereditary ferritinopathy (HF) due to a mutation in the ferritin light chain gene (FTL498‐499InsTC mutation). Case reports of the clinical features, MRI, 18FDG PET, and pathological findings observed in this family with two patients described in more details. Postural tremor (phenotype‐1) or cerebellar signs (phenotype‐2) were the first neurological symptoms detected. Parkinsonian, cerebellar and pyramidal syndromes, abnormal involuntary movements, dementia were observed in both phenotypes at more advanced stages. Beside characteristics T2* hypointense signals suggestive of iron accumulation in the striatum, mesencephalon, and cerebellum, we detected more diffuse changes including cerebellar, cortical and subcortical atrophy, cortical iron deposition, and severe leukoencephalopathy. 18FDG PET showed frontal and cerebellum hypometabolism with more severe frontal defect in patients with cognitive decline. Pathological examination showed ferritin and iron deposition in the liver, kidney, muscle, skin, and in the central nervous system. Members of this family affected by HF due to the FTL498‐499InsTC mutation have a specific clinical presentation with initial postural tremor or cerebellar ataxia, followed by pyramidal and extrapyramidal motor syndromes and late severe subcortical dementia. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22669
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(FTL498‐499InsTC)</title><author><name sortKey="Ory Agne, Fabienne" sort="Ory Agne, Fabienne" uniqKey="Ory Agne F" first="Fabienne" last="Ory-Magne">Fabienne Ory-Magne</name><affiliation><mods:affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</mods:affiliation></affiliation></author><author><name sortKey="Brefel Ourbon, Christine" sort="Brefel Ourbon, Christine" uniqKey="Brefel Ourbon C" first="Christine" last="Brefel-Courbon">Christine Brefel-Courbon</name><affiliation><mods:affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</mods:affiliation></affiliation></author><author><name sortKey="Payoux, Pierre" sort="Payoux, Pierre" uniqKey="Payoux P" first="Pierre" last="Payoux">Pierre Payoux</name><affiliation><mods:affiliation>Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse, France</mods:affiliation></affiliation></author><author><name sortKey="Debruxelles, Sabrina" sort="Debruxelles, Sabrina" uniqKey="Debruxelles S" first="Sabrina" last="Debruxelles">Sabrina Debruxelles</name><affiliation><mods:affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation></affiliation></author><author><name sortKey="Sibon, Igor" sort="Sibon, Igor" uniqKey="Sibon I" first="Igor" last="Sibon">Igor Sibon</name><affiliation><mods:affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><mods:affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation></affiliation></author><author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><affiliation><mods:affiliation>Department of Neurology, University Hospital of Montpellier, Montpellier, France</mods:affiliation></affiliation></author><author><name sortKey="Menegon, Patrice" sort="Menegon, Patrice" uniqKey="Menegon P" first="Patrice" last="Menegon">Patrice Menegon</name><affiliation><mods:affiliation>Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation></affiliation></author><author><name sortKey="Uro Oste, Emmanuelle" sort="Uro Oste, Emmanuelle" uniqKey="Uro Oste E" first="Emmanuelle" last="Uro-Coste">Emmanuelle Uro-Coste</name><affiliation><mods:affiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</mods:affiliation></affiliation></author><author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name><affiliation><mods:affiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</mods:affiliation></affiliation></author><author><name sortKey="Delisle, Marie Bernadetle" sort="Delisle, Marie Bernadetle" uniqKey="Delisle M" first="Marie Bernadetle" last="Delisle">Marie Bernadetle Delisle</name><affiliation><mods:affiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</mods:affiliation></affiliation></author><author><name sortKey="Vidal, Ruben" sort="Vidal, Ruben" uniqKey="Vidal R" first="Ruben" last="Vidal">Ruben Vidal</name><affiliation><mods:affiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</mods:affiliation></affiliation></author><author><name sortKey="Rascol, Olivier" sort="Rascol, Olivier" uniqKey="Rascol O" first="Olivier" last="Rascol">Olivier Rascol</name><affiliation><mods:affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse, Toulouse, France</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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Case reports of the clinical features, MRI, 18FDG PET, and pathological findings observed in this family with two patients described in more details. Postural tremor (phenotype‐1) or cerebellar signs (phenotype‐2) were the first neurological symptoms detected. Parkinsonian, cerebellar and pyramidal syndromes, abnormal involuntary movements, dementia were observed in both phenotypes at more advanced stages. Beside characteristics T2* hypointense signals suggestive of iron accumulation in the striatum, mesencephalon, and cerebellum, we detected more diffuse changes including cerebellar, cortical and subcortical atrophy, cortical iron deposition, and severe leukoencephalopathy. 18FDG PET showed frontal and cerebellum hypometabolism with more severe frontal defect in patients with cognitive decline. Pathological examination showed ferritin and iron deposition in the liver, kidney, muscle, skin, and in the central nervous system. Members of this family affected by HF due to the FTL498‐499InsTC mutation have a specific clinical presentation with initial postural tremor or cerebellar ataxia, followed by pyramidal and extrapyramidal motor syndromes and late severe subcortical dementia. © 2009 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Fabienne Ory‐Magne MD</name><affiliations><json:string>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</json:string></affiliations></json:item><json:item><name>Christine Brefel‐Courbon MD</name><affiliations><json:string>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</json:string></affiliations></json:item><json:item><name>Pierre Payoux MD, PhD</name><affiliations><json:string>Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse, France</json:string></affiliations></json:item><json:item><name>Sabrina Debruxelles MD</name><affiliations><json:string>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</json:string></affiliations></json:item><json:item><name>Igor Sibon MD, PhD</name><affiliations><json:string>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</json:string></affiliations></json:item><json:item><name>Cyril Goizet MD, PhD</name><affiliations><json:string>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</json:string></affiliations></json:item><json:item><name>Pierre Labauge MD, PhD</name><affiliations><json:string>Department of Neurology, University Hospital of Montpellier, Montpellier, France</json:string></affiliations></json:item><json:item><name>Patrice Menegon MD</name><affiliations><json:string>Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux, France</json:string></affiliations></json:item><json:item><name>Emmanuelle Uro‐Coste MD</name><affiliations><json:string>Department of Pathology, University Hospital of Toulouse, Toulouse, France</json:string></affiliations></json:item><json:item><name>Bernardino Ghetti MD</name><affiliations><json:string>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>Marie Bernadetle Delisle MD</name><affiliations><json:string>Department of Pathology, University Hospital of Toulouse, Toulouse, France</json:string></affiliations></json:item><json:item><name>Ruben Vidal PhD</name><affiliations><json:string>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</json:string></affiliations></json:item><json:item><name>Olivier Rascol MD, PhD</name><affiliations><json:string>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</json:string><json:string>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse, Toulouse, France</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>hereditary ferritinopathy</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>iron</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ferritin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>basal ganglia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>neuroferritinopathy</value></json:item></subject><language><json:string>eng</json:string></language><abstract>To describe a family with a hereditary ferritinopathy (HF) due to a mutation in the ferritin light chain gene (FTL498‐499InsTC mutation). Case reports of the clinical features, MRI, 18FDG PET, and pathological findings observed in this family with two patients described in more details. Postural tremor (phenotype‐1) or cerebellar signs (phenotype‐2) were the first neurological symptoms detected. Parkinsonian, cerebellar and pyramidal syndromes, abnormal involuntary movements, dementia were observed in both phenotypes at more advanced stages. Beside characteristics T2* hypointense signals suggestive of iron accumulation in the striatum, mesencephalon, and cerebellum, we detected more diffuse changes including cerebellar, cortical and subcortical atrophy, cortical iron deposition, and severe leukoencephalopathy. 18FDG PET showed frontal and cerebellum hypometabolism with more severe frontal defect in patients with cognitive decline. Pathological examination showed ferritin and iron deposition in the liver, kidney, muscle, skin, and in the central nervous system. Members of this family affected by HF due to the FTL498‐499InsTC mutation have a specific clinical presentation with initial postural tremor or cerebellar ataxia, followed by pyramidal and extrapyramidal motor syndromes and late severe subcortical dementia. © 2009 Movement Disorder Society</abstract><qualityIndicators><score>5.5</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1367</abstractCharCount><pdfWordCount>3292</pdfWordCount><pdfCharCount>23118</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>184</abstractWordCount></qualityIndicators><title>Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)</title><genre><json:string>Serial article</json:string></genre><host><volume>24</volume><pages><total>8</total><last>1683</last><first>1676</first></pages><issn><json:string>0885-3185</json:string></issn><issue>11</issue><subject><json:item><value>Research Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2009</publicationDate><copyrightDate>2009</copyrightDate><doi><json:string>10.1002/mds.22669</json:string></doi><id>8D354554FEDD84C5B3E1038AC699C5202F73C4D3</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/8D354554FEDD84C5B3E1038AC699C5202F73C4D3/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/8D354554FEDD84C5B3E1038AC699C5202F73C4D3/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/8D354554FEDD84C5B3E1038AC699C5202F73C4D3/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2009</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: Nothing to report.</note><note>National Institutes of Health - No. AG10133; No. NS055227;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)</title><author><persName><forename type="first">Fabienne</forename><surname>Ory‐Magne</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</affiliation></author><author><persName><forename type="first">Christine</forename><surname>Brefel‐Courbon</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</affiliation></author><author><persName><forename type="first">Pierre</forename><surname>Payoux</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse, France</affiliation></author><author><persName><forename type="first">Sabrina</forename><surname>Debruxelles</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</affiliation></author><author><persName><forename type="first">Igor</forename><surname>Sibon</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</affiliation></author><author><persName><forename type="first">Cyril</forename><surname>Goizet</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</affiliation></author><author><persName><forename type="first">Pierre</forename><surname>Labauge</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, University Hospital of Montpellier, Montpellier, France</affiliation></author><author><persName><forename type="first">Patrice</forename><surname>Menegon</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux, France</affiliation></author><author><persName><forename type="first">Emmanuelle</forename><surname>Uro‐Coste</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</affiliation></author><author><persName><forename type="first">Bernardino</forename><surname>Ghetti</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation></author><author><persName><forename type="first">Marie Bernadetle</forename><surname>Delisle</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</affiliation></author><author><persName><forename type="first">Ruben</forename><surname>Vidal</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation></author><author><persName><forename type="first">Olivier</forename><surname>Rascol</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Laboratoire de Pharmacologie, 37 allées Jules Guesde, 31000, Toulouse, France</p></note><affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</affiliation><affiliation>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse, Toulouse, France</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-08-15"></date><biblScope unit="vol">24</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1676">1676</biblScope><biblScope unit="page" to="1683">1683</biblScope></imprint></monogr><idno type="istex">8D354554FEDD84C5B3E1038AC699C5202F73C4D3</idno><idno type="DOI">10.1002/mds.22669</idno><idno type="ArticleID">MDS22669</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2009</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>To describe a family with a hereditary ferritinopathy (HF) due to a mutation in the ferritin light chain gene (FTL498‐499InsTC mutation). Case reports of the clinical features, MRI, 18FDG PET, and pathological findings observed in this family with two patients described in more details. Postural tremor (phenotype‐1) or cerebellar signs (phenotype‐2) were the first neurological symptoms detected. Parkinsonian, cerebellar and pyramidal syndromes, abnormal involuntary movements, dementia were observed in both phenotypes at more advanced stages. Beside characteristics T2* hypointense signals suggestive of iron accumulation in the striatum, mesencephalon, and cerebellum, we detected more diffuse changes including cerebellar, cortical and subcortical atrophy, cortical iron deposition, and severe leukoencephalopathy. 18FDG PET showed frontal and cerebellum hypometabolism with more severe frontal defect in patients with cognitive decline. Pathological examination showed ferritin and iron deposition in the liver, kidney, muscle, skin, and in the central nervous system. Members of this family affected by HF due to the FTL498‐499InsTC mutation have a specific clinical presentation with initial postural tremor or cerebellar ataxia, followed by pyramidal and extrapyramidal motor syndromes and late severe subcortical dementia. © 2009 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>hereditary ferritinopathy</term></item><item><term>iron</term></item><item><term>ferritin</term></item><item><term>basal ganglia</term></item><item><term>neuroferritinopathy</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2008-08-18">Received</change><change when="2009-05-03">Registration</change><change when="2009-08-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/8D354554FEDD84C5B3E1038AC699C5202F73C4D3/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="110"><doi origin="wiley" registered="yes">10.1002/mds.v24:11</doi><numberingGroup><numbering type="journalVolume" number="24">24</numbering><numbering type="journalIssue">11</numbering></numberingGroup><coverDate startDate="2009-08-15">15 August 2009</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="170" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.22669</doi><idGroup><id type="unit" value="MDS22669"></id></idGroup><countGroup><count type="pageTotal" number="8"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2009 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2008-08-18"></event><event type="manuscriptRevised" date="2009-04-23"></event><event type="manuscriptAccepted" date="2009-05-03"></event><event type="publishedOnlineEarlyUnpaginated" date="2009-06-09"></event><event type="firstOnline" date="2009-06-09"></event><event type="publishedOnlineFinalForm" date="2009-08-26"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-09"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">1676</numbering><numbering type="pageLast">1683</numbering></numberingGroup><correspondenceTo>Laboratoire de Pharmacologie, 37 allées Jules Guesde, 31000, Toulouse, France</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS22669.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="14"></count><count type="wordTotal" number="5208"></count></countGroup><titleGroup><title type="main" xml:lang="en">Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)<link href="#fn2"></link></title><title type="short" xml:lang="en">Phenotype and Neuroimaging of Hereditary Ferritinopathy</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Fabienne</givenNames><familyName>Ory‐Magne</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Christine</givenNames><familyName>Brefel‐Courbon</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Pierre</givenNames><familyName>Payoux</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Sabrina</givenNames><familyName>Debruxelles</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Igor</givenNames><familyName>Sibon</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Cyril</givenNames><familyName>Goizet</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Pierre</givenNames><familyName>Labauge</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Patrice</givenNames><familyName>Menegon</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Emmanuelle</givenNames><familyName>Uro‐Coste</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Bernardino</givenNames><familyName>Ghetti</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Marie Bernadetle</givenNames><familyName>Delisle</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Ruben</givenNames><familyName>Vidal</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af1 #af8" corresponding="yes"><personName><givenNames>Olivier</givenNames><familyName>Rascol</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>rascol@cict.fr</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="FR" type="organization"><unparsedAffiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="FR" type="organization"><unparsedAffiliation>Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse, France</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FR" type="organization"><unparsedAffiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="FR" type="organization"><unparsedAffiliation>Department of Neurology, University Hospital of Montpellier, Montpellier, France</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="FR" type="organization"><unparsedAffiliation>Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux, France</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="FR" type="organization"><unparsedAffiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="US" type="organization"><unparsedAffiliation>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse, Toulouse, France</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">hereditary ferritinopathy</keyword><keyword xml:id="kwd2">iron</keyword><keyword xml:id="kwd3">ferritin</keyword><keyword xml:id="kwd4">basal ganglia</keyword><keyword xml:id="kwd5">neuroferritinopathy</keyword></keywordGroup><fundingInfo><fundingAgency>National Institutes of Health</fundingAgency><fundingNumber>AG10133</fundingNumber><fundingNumber>NS055227</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>To describe a family with a hereditary ferritinopathy (HF) due to a mutation in the ferritin light chain gene (<i>FTL498‐499InsTC</i> mutation). Case reports of the clinical features, MRI, <sup>18</sup>FDG PET, and pathological findings observed in this family with two patients described in more details. Postural tremor (phenotype‐1) or cerebellar signs (phenotype‐2) were the first neurological symptoms detected. Parkinsonian, cerebellar and pyramidal syndromes, abnormal involuntary movements, dementia were observed in both phenotypes at more advanced stages. Beside characteristics T2* hypointense signals suggestive of iron accumulation in the striatum, mesencephalon, and cerebellum, we detected more diffuse changes including cerebellar, cortical and subcortical atrophy, cortical iron deposition, and severe leukoencephalopathy. <sup>18</sup>FDG PET showed frontal and cerebellum hypometabolism with more severe frontal defect in patients with cognitive decline. Pathological examination showed ferritin and iron deposition in the liver, kidney, muscle, skin, and in the central nervous system. Members of this family affected by HF due to the <i>FTL498‐499InsTC</i> mutation have a specific clinical presentation with initial postural tremor or cerebellar ataxia, followed by pyramidal and extrapyramidal motor syndromes and late severe subcortical dementia. © 2009 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p>Potential conflict of interest: Nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Phenotype and Neuroimaging of Hereditary Ferritinopathy</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)</title></titleInfo><name type="personal"><namePart type="given">Fabienne</namePart><namePart type="family">Ory‐Magne</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Brefel‐Courbon</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pierre</namePart><namePart type="family">Payoux</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sabrina</namePart><namePart type="family">Debruxelles</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Igor</namePart><namePart type="family">Sibon</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cyril</namePart><namePart type="family">Goizet</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pierre</namePart><namePart type="family">Labauge</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, University Hospital of Montpellier, Montpellier, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Patrice</namePart><namePart type="family">Menegon</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Emmanuelle</namePart><namePart type="family">Uro‐Coste</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bernardino</namePart><namePart type="family">Ghetti</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marie Bernadetle</namePart><namePart type="family">Delisle</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ruben</namePart><namePart type="family">Vidal</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Olivier</namePart><namePart type="family">Rascol</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</affiliation><affiliation>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse, Toulouse, France</affiliation><description>Correspondence: Laboratoire de Pharmacologie, 37 allées Jules Guesde, 31000, Toulouse, France</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2009-08-15</dateIssued><dateCaptured encoding="w3cdtf">2008-08-18</dateCaptured><dateValid encoding="w3cdtf">2009-05-03</dateValid><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="tables">3</extent><extent unit="references">14</extent><extent unit="words">5208</extent></physicalDescription><abstract lang="en">To describe a family with a hereditary ferritinopathy (HF) due to a mutation in the ferritin light chain gene (FTL498‐499InsTC mutation). Case reports of the clinical features, MRI, 18FDG PET, and pathological findings observed in this family with two patients described in more details. Postural tremor (phenotype‐1) or cerebellar signs (phenotype‐2) were the first neurological symptoms detected. Parkinsonian, cerebellar and pyramidal syndromes, abnormal involuntary movements, dementia were observed in both phenotypes at more advanced stages. Beside characteristics T2* hypointense signals suggestive of iron accumulation in the striatum, mesencephalon, and cerebellum, we detected more diffuse changes including cerebellar, cortical and subcortical atrophy, cortical iron deposition, and severe leukoencephalopathy. 18FDG PET showed frontal and cerebellum hypometabolism with more severe frontal defect in patients with cognitive decline. Pathological examination showed ferritin and iron deposition in the liver, kidney, muscle, skin, and in the central nervous system. Members of this family affected by HF due to the FTL498‐499InsTC mutation have a specific clinical presentation with initial postural tremor or cerebellar ataxia, followed by pyramidal and extrapyramidal motor syndromes and late severe subcortical dementia. © 2009 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><note type="funding">National Institutes of Health - No. AG10133; No. NS055227; </note><subject lang="en"><genre>Keywords</genre><topic>hereditary ferritinopathy</topic><topic>iron</topic><topic>ferritin</topic><topic>basal ganglia</topic><topic>neuroferritinopathy</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. 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