Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)
Identifieur interne : 001F42 ( PascalFrancis/Curation ); précédent : 001F41; suivant : 001F43Clinical 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.
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- topic : Fer.
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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.
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aut.</sZ></inist:fA14><country>États-Unis</country></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></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></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">09-0386531</idno><date when="2009">2009</date><idno type="stanalyst">PASCAL 09-0386531 INIST</idno><idno type="RBID">Pascal:09-0386531</idno><idno type="wicri:Area/PascalFrancis/Corpus">000D77</idno><idno type="wicri:Area/PascalFrancis/Curation">001F42</idno></publicationStmt><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><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>France</country></affiliation></author><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><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></affiliation></author><author><name sortKey="Payoux, Pierre" sort="Payoux, Pierre" uniqKey="Payoux P" first="Pierre" last="Payoux">Pierre Payoux</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Nuclear Medicine, University Hospital of Toulouse</s1><s2>Toulouse</s2><s3>FRA</s3><sZ>3 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Debruxelles, Sabrina" sort="Debruxelles, Sabrina" uniqKey="Debruxelles S" first="Sabrina" last="Debruxelles">Sabrina Debruxelles</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></affiliation></author><author><name sortKey="Sibon, Igor" sort="Sibon, Igor" uniqKey="Sibon I" first="Igor" last="Sibon">Igor Sibon</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University Hospital of Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University Hospital of Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>France</country></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></affiliation></author><author><name sortKey="Menegon, Patrice" sort="Menegon, Patrice" uniqKey="Menegon P" first="Patrice" last="Menegon">Patrice Menegon</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neuroradiology, University Hospital of Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country></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><s2>Toulouse</s2><s3>FRA</s3><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name><affiliation wicri:level="1"><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></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><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Vidal, Ruben" sort="Vidal, Ruben" uniqKey="Vidal R" first="Ruben" last="Vidal">Ruben Vidal</name><affiliation wicri:level="1"><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></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></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></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></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, <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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>24</s2></fA05><fA06><s2>11</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)</s1></fA08><fA11 i1="01" i2="1"><s1>ORY-MAGNE (Fabienne)</s1></fA11><fA11 i1="02" i2="1"><s1>BREFEL-COURBON (Christine)</s1></fA11><fA11 i1="03" i2="1"><s1>PAYOUX (Pierre)</s1></fA11><fA11 i1="04" i2="1"><s1>DEBRUXELLES (Sabrina)</s1></fA11><fA11 i1="05" i2="1"><s1>SIBON (Igor)</s1></fA11><fA11 i1="06" i2="1"><s1>GOIZET (Cyril)</s1></fA11><fA11 i1="07" i2="1"><s1>LABAUGE (Pierre)</s1></fA11><fA11 i1="08" i2="1"><s1>MENEGON (Patrice)</s1></fA11><fA11 i1="09" i2="1"><s1>URO-COSTE (Emmanuelle)</s1></fA11><fA11 i1="10" i2="1"><s1>GHETTI (Bernardino)</s1></fA11><fA11 i1="11" i2="1"><s1>BERNADETLE DELISLE (Marie)</s1></fA11><fA11 i1="12" i2="1"><s1>VIDAL (Ruben)</s1></fA11><fA11 i1="13" i2="1"><s1>RASCOL (Olivier)</s1></fA11><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></fA14><fA14 i1="02"><s1>Department of Nuclear Medicine, University Hospital of Toulouse</s1><s2>Toulouse</s2><s3>FRA</s3><sZ>3 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, University Hospital of Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, University Hospital of Montpellier</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>7 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neuroradiology, University Hospital of Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>8 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Pathology, University Hospital of Toulouse</s1><s2>Toulouse</s2><s3>FRA</s3><sZ>9 aut.</sZ><sZ>11 aut.</sZ></fA14><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></fA14><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></fA14><fA20><s1>1676-1683</s1></fA20><fA21><s1>2009</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000171892190170</s5></fA43><fA44><s0>0000</s0><s1>© 2009 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>14 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>09-0386531</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17H</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Phénotype</s0><s5>09</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Phenotype</s0><s5>09</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Fenotipo</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Français</s0><s5>10</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>French</s0><s5>10</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Francés</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Fer</s0><s2>NC</s2><s5>11</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Iron</s0><s2>NC</s2><s5>11</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Hierro</s0><s2>NC</s2><s5>11</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Ferritine</s0><s5>12</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Ferritin</s0><s5>12</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Ferritina</s0><s5>12</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Noyau gris central</s0><s5>13</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Basal ganglion</s0><s5>13</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Núcleo basal</s0><s5>13</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Encéphale</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Encephalon</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux central</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Central nervous system</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervioso central</s0><s5>38</s5></fC07><fN21><s1>278</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)
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