Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)
Identifieur interne : 001D78 ( Istex/Curation ); précédent : 001D77; suivant : 001D79Clinical 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 ] ; 2009-08-15.
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
Url:
DOI: 10.1002/mds.22669
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001D78
Links to Exploration step
ISTEX:8D354554FEDD84C5B3E1038AC699C5202F73C4D3Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (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 wicri:level="1"><mods:affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurosciences, University Hospital of Toulouse, Toulouse</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurosciences, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Payoux, Pierre" sort="Payoux, Pierre" uniqKey="Payoux P" first="Pierre" last="Payoux">Pierre Payoux</name><affiliation wicri:level="1"><mods:affiliation>Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Debruxelles, Sabrina" sort="Debruxelles, Sabrina" uniqKey="Debruxelles S" first="Sabrina" last="Debruxelles">Sabrina Debruxelles</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, University Hospital of Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Sibon, Igor" sort="Sibon, Igor" uniqKey="Sibon I" first="Igor" last="Sibon">Igor Sibon</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, University Hospital of Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, University Hospital of Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Hospital of Montpellier, Montpellier, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, University Hospital of Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Menegon, Patrice" sort="Menegon, Patrice" uniqKey="Menegon P" first="Patrice" last="Menegon">Patrice Menegon</name><affiliation wicri:level="1"><mods:affiliation>Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pathology, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pathology, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Vidal, Ruben" sort="Vidal, Ruben" uniqKey="Vidal R" first="Ruben" last="Vidal">Ruben Vidal</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea></affiliation></author><author><name sortKey="Rascol, Olivier" sort="Rascol, Olivier" uniqKey="Rascol O" first="Olivier" last="Rascol">Olivier Rascol</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurosciences, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:8D354554FEDD84C5B3E1038AC699C5202F73C4D3</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1002/mds.22669</idno><idno type="url">https://api.istex.fr/document/8D354554FEDD84C5B3E1038AC699C5202F73C4D3/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001D78</idno><idno type="wicri:Area/Istex/Curation">001D78</idno></publicationStmt><sourceDesc><biblStruct><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><name sortKey="Ory Agne, Fabienne" sort="Ory Agne, Fabienne" uniqKey="Ory Agne F" first="Fabienne" last="Ory-Magne">Fabienne Ory-Magne</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurosciences, University Hospital of Toulouse, Toulouse</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurosciences, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Payoux, Pierre" sort="Payoux, Pierre" uniqKey="Payoux P" first="Pierre" last="Payoux">Pierre Payoux</name><affiliation wicri:level="1"><mods:affiliation>Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Debruxelles, Sabrina" sort="Debruxelles, Sabrina" uniqKey="Debruxelles S" first="Sabrina" last="Debruxelles">Sabrina Debruxelles</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, University Hospital of Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Sibon, Igor" sort="Sibon, Igor" uniqKey="Sibon I" first="Igor" last="Sibon">Igor Sibon</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, University Hospital of Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, University Hospital of Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University Hospital of Montpellier, Montpellier, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, University Hospital of Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Menegon, Patrice" sort="Menegon, Patrice" uniqKey="Menegon P" first="Patrice" last="Menegon">Patrice Menegon</name><affiliation wicri:level="1"><mods:affiliation>Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuroradiology, University Hospital of Bordeaux, Bordeaux</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pathology, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Pathology, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pathology, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Vidal, Ruben" sort="Vidal, Ruben" uniqKey="Vidal R" first="Ruben" last="Vidal">Ruben Vidal</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, Indiana</wicri:regionArea></affiliation></author><author><name sortKey="Rascol, Olivier" sort="Rascol, Olivier" uniqKey="Rascol O" first="Olivier" last="Rascol">Olivier Rascol</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurosciences, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurosciences, University Hospital of Toulouse, Toulouse</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse, Toulouse</wicri:regionArea></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. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-08-15">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><idno type="ISSN">0885-3185</idno></series><idno type="istex">8D354554FEDD84C5B3E1038AC699C5202F73C4D3</idno><idno type="DOI">10.1002/mds.22669</idno><idno type="ArticleID">MDS22669</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>basal ganglia</term><term>ferritin</term><term>hereditary ferritinopathy</term><term>iron</term><term>neuroferritinopathy</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></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, 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></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001D78 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 001D78 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:8D354554FEDD84C5B3E1038AC699C5202F73C4D3
|texte= Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)
}}
| This area was generated with Dilib version V0.6.23. |  |