MovDisordV3, France, Analysis, bibRecord, 000270

Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)

Identifieur interne : 000270 ( France/Analysis ); précédent : 000269; suivant : 000271

Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)

Auteurs : Fabienne Ory-Magne [France] ; Christine Brefel-Courbon [France] ; Pierre Payoux [France] ; Sabrina Debruxelles [France] ; Igor Sibon [France] ; Cyril Goizet [France] ; Pierre Labauge [France] ; Patrice Menegon [France] ; Emmanuelle Uro-Coste [France] ; Bernardino Ghetti [États-Unis] ; Marie Bernadetle Delisle [France] ; Ruben Vidal [États-Unis] ; Olivier Rascol [France]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:09-0386531

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Phénotype, Français, Fer, Ferritine, Noyau gris central.
Wicri :
- topic : Fer.

English descriptors

KwdEn :
- Basal ganglion, Ferritin, French, Iron, Nervous system diseases, Phenotype.

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.

Affiliations:

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Pascal:09-0386531

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)</title>
<author><name sortKey="Ory Magne, Fabienne" sort="Ory Magne, Fabienne" uniqKey="Ory Magne F" first="Fabienne" last="Ory-Magne">Fabienne Ory-Magne</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurosciences, University Hospital of Toulouse</s1>
<s2>Toulouse</s2>
<s3>FRA</s3>
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<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
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<placeName><settlement type="city">Toulouse</settlement>
</placeName>
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<author><name sortKey="Brefel Courbon, Christine" sort="Brefel Courbon, Christine" uniqKey="Brefel Courbon C" first="Christine" last="Brefel-Courbon">Christine Brefel-Courbon</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurosciences, University Hospital of Toulouse</s1>
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<author><name sortKey="Sibon, Igor" sort="Sibon, Igor" uniqKey="Sibon I" first="Igor" last="Sibon">Igor Sibon</name>
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<placeName><settlement type="city">Bordeaux</settlement>
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<author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
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<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University Hospital of Montpellier</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Menegon, Patrice" sort="Menegon, Patrice" uniqKey="Menegon P" first="Patrice" last="Menegon">Patrice Menegon</name>
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<s2>Bordeaux</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Uro Coste, Emmanuelle" sort="Uro Coste, Emmanuelle" uniqKey="Uro Coste E" first="Emmanuelle" last="Uro-Coste">Emmanuelle Uro-Coste</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Pathology, University Hospital of Toulouse</s1>
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<s3>FRA</s3>
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<country>France</country>
<placeName><settlement type="city">Toulouse</settlement>
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<author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name>
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<s2>Indianapolis, Indiana</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Indiana</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bernadetle Delisle, Marie" sort="Bernadetle Delisle, Marie" uniqKey="Bernadetle Delisle M" first="Marie" last="Bernadetle Delisle">Marie Bernadetle Delisle</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Pathology, University Hospital of Toulouse</s1>
<s2>Toulouse</s2>
<s3>FRA</s3>
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<sZ>11 aut.</sZ>
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<placeName><settlement type="city">Toulouse</settlement>
</placeName>
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<author><name sortKey="Vidal, Ruben" sort="Vidal, Ruben" uniqKey="Vidal R" first="Ruben" last="Vidal">Ruben Vidal</name>
<affiliation wicri:level="2"><inist:fA14 i1="07"><s1>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine</s1>
<s2>Indianapolis, Indiana</s2>
<s3>USA</s3>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Indiana</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rascol, Olivier" sort="Rascol, Olivier" uniqKey="Rascol O" first="Olivier" last="Rascol">Olivier Rascol</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurosciences, University Hospital of Toulouse</s1>
<s2>Toulouse</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Toulouse</settlement>
</placeName>
<placeName><settlement type="city">Toulouse</settlement>
<region type="region" nuts="2">Midi-Pyrénées</region>
</placeName>
<orgName type="university" n="3">Université Toulouse III - Paul Sabatier</orgName>
<orgName type="institution" wicri:auto="newGroup">Université de Toulouse</orgName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse</s1>
<s2>Toulouse</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Toulouse</settlement>
</placeName>
<placeName><settlement type="city">Toulouse</settlement>
<region type="region" nuts="2">Midi-Pyrénées</region>
</placeName>
<orgName type="university" n="3">Université Toulouse III - Paul Sabatier</orgName>
<orgName type="institution" wicri:auto="newGroup">Université de Toulouse</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Basal ganglion</term>
<term>Ferritin</term>
<term>French</term>
<term>Iron</term>
<term>Nervous system diseases</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Phénotype</term>
<term>Français</term>
<term>Fer</term>
<term>Ferritine</term>
<term>Noyau gris central</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Fer</term>
</keywords>
</textClass>
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</teiHeader>
<front><div type="abstract" xml: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, <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<sup>*</sup>
 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 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.</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
<li>États-Unis</li>
</country>
<region><li>Indiana</li>
<li>Midi-Pyrénées</li>
</region>
<settlement><li>Bordeaux</li>
<li>Montpellier</li>
<li>Toulouse</li>
</settlement>
<orgName><li>Université Toulouse III - Paul Sabatier</li>
<li>Université de Toulouse</li>
</orgName>
</list>
<tree><country name="France"><noRegion><name sortKey="Ory Magne, Fabienne" sort="Ory Magne, Fabienne" uniqKey="Ory Magne F" first="Fabienne" last="Ory-Magne">Fabienne Ory-Magne</name>
</noRegion>
<name sortKey="Bernadetle Delisle, Marie" sort="Bernadetle Delisle, Marie" uniqKey="Bernadetle Delisle M" first="Marie" last="Bernadetle Delisle">Marie Bernadetle Delisle</name>
<name sortKey="Brefel Courbon, Christine" sort="Brefel Courbon, Christine" uniqKey="Brefel Courbon C" first="Christine" last="Brefel-Courbon">Christine Brefel-Courbon</name>
<name sortKey="Debruxelles, Sabrina" sort="Debruxelles, Sabrina" uniqKey="Debruxelles S" first="Sabrina" last="Debruxelles">Sabrina Debruxelles</name>
<name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
<name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name>
<name sortKey="Menegon, Patrice" sort="Menegon, Patrice" uniqKey="Menegon P" first="Patrice" last="Menegon">Patrice Menegon</name>
<name sortKey="Payoux, Pierre" sort="Payoux, Pierre" uniqKey="Payoux P" first="Pierre" last="Payoux">Pierre Payoux</name>
<name sortKey="Rascol, Olivier" sort="Rascol, Olivier" uniqKey="Rascol O" first="Olivier" last="Rascol">Olivier Rascol</name>
<name sortKey="Rascol, Olivier" sort="Rascol, Olivier" uniqKey="Rascol O" first="Olivier" last="Rascol">Olivier Rascol</name>
<name sortKey="Sibon, Igor" sort="Sibon, Igor" uniqKey="Sibon I" first="Igor" last="Sibon">Igor Sibon</name>
<name sortKey="Uro Coste, Emmanuelle" sort="Uro Coste, Emmanuelle" uniqKey="Uro Coste E" first="Emmanuelle" last="Uro-Coste">Emmanuelle Uro-Coste</name>
</country>
<country name="États-Unis"><region name="Indiana"><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name>
</region>
<name sortKey="Vidal, Ruben" sort="Vidal, Ruben" uniqKey="Vidal R" first="Ruben" last="Vidal">Ruben Vidal</name>
</country>
</tree>
</affiliations>
</record>

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   |wiki=    Wicri/Santé
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   |étape=   Analysis
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   |clé=     Pascal:09-0386531
   |texte=   Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)
}}

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	Movement Disorders (revue)
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Movement Disorders (revue)

Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)

Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)

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