MovDisordV3, PascalFrancis, Corpus, bibRecord, 000D77

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

Identifieur interne : 000D77 ( PascalFrancis/Corpus ); précédent : 000D76; suivant : 000D78

Clinical 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 Rascol

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.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)`
A11	`01`	`1`		`@1 ORY-MAGNE (Fabienne)`
A11	`02`	`1`		`@1 BREFEL-COURBON (Christine)`
A11	`03`	`1`		`@1 PAYOUX (Pierre)`
A11	`04`	`1`		`@1 DEBRUXELLES (Sabrina)`
A11	`05`	`1`		`@1 SIBON (Igor)`
A11	`06`	`1`		`@1 GOIZET (Cyril)`
A11	`07`	`1`		`@1 LABAUGE (Pierre)`
A11	`08`	`1`		`@1 MENEGON (Patrice)`
A11	`09`	`1`		`@1 URO-COSTE (Emmanuelle)`
A11	`10`	`1`		`@1 GHETTI (Bernardino)`
A11	`11`	`1`		`@1 BERNADETLE DELISLE (Marie)`
A11	`12`	`1`		`@1 VIDAL (Ruben)`
A11	`13`	`1`		`@1 RASCOL (Olivier)`
A14	`01`			`@1 Department of Neurosciences, University Hospital of Toulouse @2 Toulouse @3 FRA @Z 1 aut. @Z 2 aut. @Z 4 aut. @Z 13 aut.`
A14	`02`			`@1 Department of Nuclear Medicine, University Hospital of Toulouse @2 Toulouse @3 FRA @Z 3 aut.`
A14	`03`			`@1 Department of Neurology, University Hospital of Bordeaux @2 Bordeaux @3 FRA @Z 5 aut. @Z 6 aut.`
A14	`04`			`@1 Department of Neurology, University Hospital of Montpellier @2 Montpellier @3 FRA @Z 7 aut.`
A14	`05`			`@1 Department of Neuroradiology, University Hospital of Bordeaux @2 Bordeaux @3 FRA @Z 8 aut.`
A14	`06`			`@1 Department of Pathology, University Hospital of Toulouse @2 Toulouse @3 FRA @Z 9 aut. @Z 11 aut.`
A14	`07`			`@1 Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine @2 Indianapolis, Indiana @3 USA @Z 10 aut. @Z 12 aut.`
A14	`08`			`@1 Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse @2 Toulouse @3 FRA @Z 13 aut.`
A20				`@1 1676-1683`
A21				`@1 2009`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000171892190170`
A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
A45				`@0 14 ref.`
A47	`01`	`1`		`@0 09-0386531`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Phénotype @5 09`
C03	`02`	`X`	`ENG`	`@0 Phenotype @5 09`
C03	`02`	`X`	`SPA`	`@0 Fenotipo @5 09`
C03	`03`	`X`	`FRE`	`@0 Français @5 10`
C03	`03`	`X`	`ENG`	`@0 French @5 10`
C03	`03`	`X`	`SPA`	`@0 Francés @5 10`
C03	`04`	`X`	`FRE`	`@0 Fer @2 NC @5 11`
C03	`04`	`X`	`ENG`	`@0 Iron @2 NC @5 11`
C03	`04`	`X`	`SPA`	`@0 Hierro @2 NC @5 11`
C03	`05`	`X`	`FRE`	`@0 Ferritine @5 12`
C03	`05`	`X`	`ENG`	`@0 Ferritin @5 12`
C03	`05`	`X`	`SPA`	`@0 Ferritina @5 12`
C03	`06`	`X`	`FRE`	`@0 Noyau gris central @5 13`
C03	`06`	`X`	`ENG`	`@0 Basal ganglion @5 13`
C03	`06`	`X`	`SPA`	`@0 Núcleo basal @5 13`
C07	`01`	`X`	`FRE`	`@0 Encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Encephalon @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo @5 37`
C07	`02`	`X`	`FRE`	`@0 Système nerveux central @5 38`
C07	`02`	`X`	`ENG`	`@0 Central nervous system @5 38`
C07	`02`	`X`	`SPA`	`@0 Sistema nervioso central @5 38`
N21				`@1 278`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0386531 INIST
ET :	Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)
AU :	ORY-MAGNE (Fabienne); BREFEL-COURBON (Christine); PAYOUX (Pierre); DEBRUXELLES (Sabrina); SIBON (Igor); GOIZET (Cyril); LABAUGE (Pierre); MENEGON (Patrice); URO-COSTE (Emmanuelle); GHETTI (Bernardino); BERNADETLE DELISLE (Marie); VIDAL (Ruben); RASCOL (Olivier)
AF :	Department of Neurosciences, University Hospital of Toulouse/Toulouse/France (1 aut., 2 aut., 4 aut., 13 aut.); Department of Nuclear Medicine, University Hospital of Toulouse/Toulouse/France (3 aut.); Department of Neurology, University Hospital of Bordeaux/Bordeaux/France (5 aut., 6 aut.); Department of Neurology, University Hospital of Montpellier/Montpellier/France (7 aut.); Department of Neuroradiology, University Hospital of Bordeaux/Bordeaux/France (8 aut.); Department of Pathology, University Hospital of Toulouse/Toulouse/France (9 aut., 11 aut.); Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine/Indianapolis, Indiana/Etats-Unis (10 aut., 12 aut.); Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse/Toulouse/France (13 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 11; Pp. 1676-1683; Bibl. 14 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17H
FD :	Pathologie du système nerveux; Phénotype; Français; Fer; Ferritine; Noyau gris central
FG :	Encéphale; Système nerveux central
ED :	Nervous system diseases; Phenotype; French; Iron; Ferritin; Basal ganglion
EG :	Encephalon; Central nervous system
SD :	Sistema nervioso patología; Fenotipo; Francés; Hierro; Ferritina; Núcleo basal
LO :	INIST-20953.354000171892190170
ID :	09-0386531

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Pascal:09-0386531

Le document en format XML

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<author><name sortKey="Ory Magne, Fabienne" sort="Ory Magne, Fabienne" uniqKey="Ory Magne F" first="Fabienne" last="Ory-Magne">Fabienne Ory-Magne</name>
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<s2>Toulouse</s2>
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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>
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<s2>Toulouse</s2>
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<author><name sortKey="Payoux, Pierre" sort="Payoux, Pierre" uniqKey="Payoux P" first="Pierre" last="Payoux">Pierre Payoux</name>
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<author><name sortKey="Debruxelles, Sabrina" sort="Debruxelles, Sabrina" uniqKey="Debruxelles S" first="Sabrina" last="Debruxelles">Sabrina Debruxelles</name>
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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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<author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
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<author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name>
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<author><name sortKey="Menegon, Patrice" sort="Menegon, Patrice" uniqKey="Menegon P" first="Patrice" last="Menegon">Patrice Menegon</name>
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</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><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>
</affiliation>
</author>
<author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Vidal, Ruben" sort="Vidal, Ruben" uniqKey="Vidal R" first="Ruben" last="Vidal">Ruben Vidal</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Rascol, Olivier" sort="Rascol, Olivier" uniqKey="Rascol O" first="Olivier" last="Rascol">Olivier Rascol</name>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
</author>
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</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Payoux, Pierre" sort="Payoux, Pierre" uniqKey="Payoux P" first="Pierre" last="Payoux">Pierre Payoux</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Debruxelles, Sabrina" sort="Debruxelles, Sabrina" uniqKey="Debruxelles S" first="Sabrina" last="Debruxelles">Sabrina Debruxelles</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Sibon, Igor" sort="Sibon, Igor" uniqKey="Sibon I" first="Igor" last="Sibon">Igor Sibon</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Labauge, Pierre" sort="Labauge, Pierre" uniqKey="Labauge P" first="Pierre" last="Labauge">Pierre Labauge</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Menegon, Patrice" sort="Menegon, Patrice" uniqKey="Menegon P" first="Patrice" last="Menegon">Patrice Menegon</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Ghetti, Bernardino" sort="Ghetti, Bernardino" uniqKey="Ghetti B" first="Bernardino" last="Ghetti">Bernardino Ghetti</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Vidal, Ruben" sort="Vidal, Ruben" uniqKey="Vidal R" first="Ruben" last="Vidal">Ruben Vidal</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Rascol, Olivier" sort="Rascol, Olivier" uniqKey="Rascol O" first="Olivier" last="Rascol">Olivier Rascol</name>
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<sZ>4 aut.</sZ>
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<affiliation><inist:fA14 i1="08"><s1>Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse</s1>
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<series><title level="j" type="main">Movement disorders</title>
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<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>
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<fA14 i1="07"><s1>Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine</s1>
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<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
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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>
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<ET>Clinical Phenotype and Neuroimaging Findings in a French Family with Hereditary Ferritinopathy (FTL498-499InsTC)</ET>
<AU>ORY-MAGNE (Fabienne); BREFEL-COURBON (Christine); PAYOUX (Pierre); DEBRUXELLES (Sabrina); SIBON (Igor); GOIZET (Cyril); LABAUGE (Pierre); MENEGON (Patrice); URO-COSTE (Emmanuelle); GHETTI (Bernardino); BERNADETLE DELISLE (Marie); VIDAL (Ruben); RASCOL (Olivier)</AU>
<AF>Department of Neurosciences, University Hospital of Toulouse/Toulouse/France (1 aut., 2 aut., 4 aut., 13 aut.); Department of Nuclear Medicine, University Hospital of Toulouse/Toulouse/France (3 aut.); Department of Neurology, University Hospital of Bordeaux/Bordeaux/France (5 aut., 6 aut.); Department of Neurology, University Hospital of Montpellier/Montpellier/France (7 aut.); Department of Neuroradiology, University Hospital of Bordeaux/Bordeaux/France (8 aut.); Department of Pathology, University Hospital of Toulouse/Toulouse/France (9 aut., 11 aut.); Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine/Indianapolis, Indiana/Etats-Unis (10 aut., 12 aut.); Department of Clinical Pharmacology, Clinical Investigation Center, University Hospital of Toulouse/Toulouse/France (13 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 11; Pp. 1676-1683; Bibl. 14 ref.</SO>
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<EA>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.</EA>
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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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