Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC).
Identifieur interne : 002712 ( Ncbi/Curation ); précédent : 002711; suivant : 002713Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC).
Auteurs : Fabienne Ory-Magne [France] ; 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 RascolSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
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).
- 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, (18)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* 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. (18)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.
DOI: 10.1002/mds.22669
PubMed: 19514068
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pubmed:19514068Le 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>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurosciences, University Hospital of Toulouse, France.</nlm:affiliation>
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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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<author><name sortKey="Payoux, Pierre" sort="Payoux, Pierre" uniqKey="Payoux P" first="Pierre" last="Payoux">Pierre Payoux</name>
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<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>
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<term>Iron</term>
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<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>
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<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>
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<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>
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<term>Age of Onset</term>
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<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
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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, (18)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* 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. (18)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>
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