Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498‐499InsTC)
Identifieur interne : 000262 ( France/Analysis ); précédent : 000261; suivant : 000263Clinical 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.
Descripteurs français
- Wicri :
- geographic : France.
English descriptors
- KwdEn :
- Adult, Age of Onset, Apoferritins (genetics), Basal Ganglia Diseases (genetics), Basal Ganglia Diseases (metabolism), Basal Ganglia Diseases (pathology), Basal Ganglia Diseases (radionuclide imaging), Central Nervous System (chemistry), Central Nervous System (pathology), Cerebellar Ataxia (genetics), Cerebellar Ataxia (metabolism), Cerebellar Ataxia (pathology), Cerebellar Ataxia (radionuclide imaging), Dementia (genetics), Dementia (metabolism), Dementia (pathology), Dementia (radionuclide imaging), Female, Ferritins (analysis), France (epidemiology), Humans, Iron (analysis), Liver (chemistry), Liver (pathology), Magnetic Resonance Imaging, Male, Middle Aged, Movement Disorders (genetics), Movement Disorders (metabolism), Movement Disorders (pathology), Movement Disorders (radionuclide imaging), Muscle, Skeletal (chemistry), Muscle, Skeletal (pathology), Mutagenesis, Insertional, Mutation, Pedigree, Phenotype, Positron-Emission Tomography, Skin (chemistry), Skin (pathology), Tremor (genetics), Tremor (metabolism), Tremor (pathology), Tremor (radionuclide imaging), basal ganglia, ferritin, hereditary ferritinopathy, iron, neuroferritinopathy.
- MESH :
- chemical , analysis : Ferritins, Iron.
- chemical , genetics : Apoferritins.
- geographic , epidemiology : France.
- chemistry : Central Nervous System, Liver, Muscle, Skeletal, Skin.
- genetics : Basal Ganglia Diseases, Cerebellar Ataxia, Dementia, Movement Disorders, Tremor.
- metabolism : Basal Ganglia Diseases, Cerebellar Ataxia, Dementia, Movement Disorders, Tremor.
- pathology : Basal Ganglia Diseases, Central Nervous System, Cerebellar Ataxia, Dementia, Liver, Movement Disorders, Muscle, Skeletal, Skin, Tremor.
- radionuclide imaging : Basal Ganglia Diseases, Cerebellar Ataxia, Dementia, Movement Disorders, Tremor.
- Adult, Age of Onset, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutagenesis, Insertional, Mutation, Pedigree, Phenotype, Positron-Emission Tomography.
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
Affiliations:
- France, États-Unis
- Indiana, Midi-Pyrénées
- Bordeaux, Montpellier, Toulouse
- Université Toulouse III - Paul Sabatier, Université de Toulouse
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ISTEX:8D354554FEDD84C5B3E1038AC699C5202F73C4D3Le document en format XML
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xml:lang="fr">France</country><wicri:regionArea>Department of Nuclear Medicine, University Hospital of Toulouse, Toulouse</wicri:regionArea><placeName><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Debruxelles, Sabrina" sort="Debruxelles, Sabrina" uniqKey="Debruxelles S" first="Sabrina" last="Debruxelles">Sabrina Debruxelles</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, University Hospital of Bordeaux, Bordeaux</wicri:regionArea><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Sibon, Igor" sort="Sibon, Igor" uniqKey="Sibon I" first="Igor" last="Sibon">Igor Sibon</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, University Hospital of Bordeaux, Bordeaux</wicri:regionArea><placeName><settlement 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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>Adult</term><term>Age of Onset</term><term>Apoferritins (genetics)</term><term>Basal Ganglia Diseases (genetics)</term><term>Basal Ganglia Diseases (metabolism)</term><term>Basal Ganglia Diseases (pathology)</term><term>Basal Ganglia Diseases (radionuclide imaging)</term><term>Central Nervous System (chemistry)</term><term>Central Nervous System (pathology)</term><term>Cerebellar Ataxia (genetics)</term><term>Cerebellar Ataxia (metabolism)</term><term>Cerebellar Ataxia (pathology)</term><term>Cerebellar Ataxia (radionuclide imaging)</term><term>Dementia (genetics)</term><term>Dementia (metabolism)</term><term>Dementia (pathology)</term><term>Dementia (radionuclide imaging)</term><term>Female</term><term>Ferritins (analysis)</term><term>France (epidemiology)</term><term>Humans</term><term>Iron (analysis)</term><term>Liver (chemistry)</term><term>Liver (pathology)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Movement Disorders (genetics)</term><term>Movement Disorders (metabolism)</term><term>Movement Disorders (pathology)</term><term>Movement Disorders (radionuclide imaging)</term><term>Muscle, Skeletal (chemistry)</term><term>Muscle, Skeletal (pathology)</term><term>Mutagenesis, Insertional</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Positron-Emission Tomography</term><term>Skin (chemistry)</term><term>Skin (pathology)</term><term>Tremor (genetics)</term><term>Tremor (metabolism)</term><term>Tremor (pathology)</term><term>Tremor (radionuclide imaging)</term><term>basal ganglia</term><term>ferritin</term><term>hereditary ferritinopathy</term><term>iron</term><term>neuroferritinopathy</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Ferritins</term><term>Iron</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoferritins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="chemistry" xml:lang="en"><term>Central Nervous System</term><term>Liver</term><term>Muscle, Skeletal</term><term>Skin</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Basal Ganglia Diseases</term><term>Cerebellar Ataxia</term><term>Dementia</term><term>Movement Disorders</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Basal Ganglia Diseases</term><term>Cerebellar Ataxia</term><term>Dementia</term><term>Movement Disorders</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Basal Ganglia Diseases</term><term>Central Nervous System</term><term>Cerebellar Ataxia</term><term>Dementia</term><term>Liver</term><term>Movement Disorders</term><term>Muscle, Skeletal</term><term>Skin</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Basal Ganglia Diseases</term><term>Cerebellar Ataxia</term><term>Dementia</term><term>Movement Disorders</term><term>Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Mutagenesis, Insertional</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Positron-Emission Tomography</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</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><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 Agne, Fabienne" sort="Ory Agne, Fabienne" uniqKey="Ory Agne F" first="Fabienne" last="Ory-Magne">Fabienne Ory-Magne</name></noRegion><name sortKey="Brefel Ourbon, Christine" sort="Brefel Ourbon, Christine" uniqKey="Brefel Ourbon 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="Delisle, Marie Bernadetle" sort="Delisle, Marie Bernadetle" uniqKey="Delisle M" first="Marie Bernadetle" last="Delisle">Marie Bernadetle Delisle</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 Oste, Emmanuelle" sort="Uro Oste, Emmanuelle" uniqKey="Uro Oste 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>Pour manipuler ce document sous Unix (Dilib)
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