Progranulin gene mutation with an unusual clinical and neuropathologic presentation
Identifieur interne : 002673 ( Main/Exploration ); précédent : 002672; suivant : 002674Progranulin gene mutation with an unusual clinical and neuropathologic presentation
Auteurs : Christian Wider [États-Unis] ; Ryan J. Uitti [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; John Y. Fang [États-Unis] ; Keith A. Josephs [États-Unis] ; Matthew C. Baker [États-Unis] ; Rosa Rademakers [États-Unis] ; Michael L. Hutton [États-Unis] ; Dennis W. Dickson [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-06-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Atrophy, Chromosome Aberrations, DNA Mutational Analysis, Dementia (genetics), Dementia (pathology), Diagnosis, Differential, Dominance, Cerebral (physiology), Dysarthria (genetics), Dysarthria (pathology), Female, Frontal Lobe (pathology), Frontotemporal dementia, Genes, Dominant (genetics), Humans, Inclusion Bodies (pathology), Intercellular Signaling Peptides and Proteins (genetics), Intranuclear Inclusion Bodies (pathology), Middle Aged, Movement Disorders (genetics), Movement Disorders (pathology), Mutation, Nervous system diseases, Neurites (pathology), Neurologic Examination, Neurons (pathology), Oculomotor Nerve Diseases (genetics), Oculomotor Nerve Diseases (pathology), Parkinson disease, Parkinson's disease/parkinsonism, Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Parkinsonism, Pedigree, Putamen (pathology), Stuttering, Stuttering (genetics), Stuttering (pathology), Temporal Lobe (pathology), Ubiquitin (analysis), frontotemporal dementia, neuropathology, progranulin, stuttering.
- MESH :
- chemical , analysis : Ubiquitin.
- chemical , genetics : Intercellular Signaling Peptides and Proteins.
- genetics : Dementia, Dysarthria, Genes, Dominant, Movement Disorders, Oculomotor Nerve Diseases, Parkinsonian Disorders, Stuttering.
- pathology : Dementia, Dysarthria, Frontal Lobe, Inclusion Bodies, Intranuclear Inclusion Bodies, Movement Disorders, Neurites, Neurons, Oculomotor Nerve Diseases, Parkinsonian Disorders, Putamen, Stuttering, Temporal Lobe.
- physiology : Dominance, Cerebral.
- Atrophy, Chromosome Aberrations, DNA Mutational Analysis, Diagnosis, Differential, Female, Humans, Middle Aged, Neurologic Examination, Pedigree.
Abstract
Progranulin gene (PGRN) mutations cause frontotemporal lobar degeneration with ubiquitin‐positive inclusions (FTLD‐U). Patients usually present with a frontotemporal dementia syndrome and have prominent atrophy and neuronal loss in frontal and temporal cortices and the striatum, with neuronal intranuclear and cytoplasmic inclusions. Clinical, neuropathological, and genetic studies are reported on an individual with PGRN mutation and her family members. We describe a patient with a PGRN c.26C>A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism. Two other family members were affected, one with a behavioral variant frontotemporal dementia syndrome, the other with a diagnosis of probable Alzheimer's disease. At autopsy there was no neuronal loss in the cortex or medial temporal lobe structures, but there was striatal gliosis. Immunohistochemistry for ubiquitin and TDP‐43 revealed neuronal cytoplasmic and intranuclear inclusions as well as neurites. This study further expands the clinical and pathological spectrum of PGRN mutations, and suggests the diagnosis could be missed in some individuals with atypical presentations. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22065
Affiliations:
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Fang</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Vanderbilt University, Nashville, Tennessee</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author><author><name sortKey="Josephs, Keith A" sort="Josephs, Keith A" uniqKey="Josephs K" first="Keith A." last="Josephs">Keith A. Josephs</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Baker, Matthew C" sort="Baker, Matthew C" uniqKey="Baker M" first="Matthew C." last="Baker">Matthew C. 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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="2008-06-15">2008-06-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1168">1168</biblScope><biblScope unit="page" to="1173">1173</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">2B868AF78E1C8733F6993B55CD05864B5121C5C9</idno><idno type="DOI">10.1002/mds.22065</idno><idno type="ArticleID">MDS22065</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Atrophy</term><term>Chromosome Aberrations</term><term>DNA Mutational Analysis</term><term>Dementia (genetics)</term><term>Dementia (pathology)</term><term>Diagnosis, Differential</term><term>Dominance, Cerebral (physiology)</term><term>Dysarthria (genetics)</term><term>Dysarthria (pathology)</term><term>Female</term><term>Frontal Lobe (pathology)</term><term>Frontotemporal dementia</term><term>Genes, Dominant (genetics)</term><term>Humans</term><term>Inclusion Bodies (pathology)</term><term>Intercellular Signaling Peptides and Proteins (genetics)</term><term>Intranuclear Inclusion Bodies (pathology)</term><term>Middle Aged</term><term>Movement Disorders (genetics)</term><term>Movement Disorders (pathology)</term><term>Mutation</term><term>Nervous system diseases</term><term>Neurites (pathology)</term><term>Neurologic Examination</term><term>Neurons (pathology)</term><term>Oculomotor Nerve Diseases (genetics)</term><term>Oculomotor Nerve Diseases (pathology)</term><term>Parkinson disease</term><term>Parkinson's disease/parkinsonism</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (pathology)</term><term>Parkinsonism</term><term>Pedigree</term><term>Putamen (pathology)</term><term>Stuttering</term><term>Stuttering (genetics)</term><term>Stuttering (pathology)</term><term>Temporal Lobe (pathology)</term><term>Ubiquitin (analysis)</term><term>frontotemporal dementia</term><term>neuropathology</term><term>progranulin</term><term>stuttering</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Ubiquitin</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Intercellular Signaling Peptides and Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dementia</term><term>Dysarthria</term><term>Genes, Dominant</term><term>Movement Disorders</term><term>Oculomotor Nerve Diseases</term><term>Parkinsonian Disorders</term><term>Stuttering</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Dementia</term><term>Dysarthria</term><term>Frontal Lobe</term><term>Inclusion Bodies</term><term>Intranuclear Inclusion Bodies</term><term>Movement Disorders</term><term>Neurites</term><term>Neurons</term><term>Oculomotor Nerve Diseases</term><term>Parkinsonian Disorders</term><term>Putamen</term><term>Stuttering</term><term>Temporal Lobe</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Dominance, Cerebral</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Atrophy</term><term>Chromosome Aberrations</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Bégaiement</term><term>Démence frontotemporale</term><term>Maladie de Parkinson</term><term>Mutation</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Progranulin gene (PGRN) mutations cause frontotemporal lobar degeneration with ubiquitin‐positive inclusions (FTLD‐U). Patients usually present with a frontotemporal dementia syndrome and have prominent atrophy and neuronal loss in frontal and temporal cortices and the striatum, with neuronal intranuclear and cytoplasmic inclusions. Clinical, neuropathological, and genetic studies are reported on an individual with PGRN mutation and her family members. We describe a patient with a PGRN c.26C>A mutation who presented with progressive stuttering dysarthria, oculomotor abnormalities, choreic buccolingual movements, and mild parkinsonism. Two other family members were affected, one with a behavioral variant frontotemporal dementia syndrome, the other with a diagnosis of probable Alzheimer's disease. At autopsy there was no neuronal loss in the cortex or medial temporal lobe structures, but there was striatal gliosis. Immunohistochemistry for ubiquitin and TDP‐43 revealed neuronal cytoplasmic and intranuclear inclusions as well as neurites. This study further expands the clinical and pathological spectrum of PGRN mutations, and suggests the diagnosis could be missed in some individuals with atypical presentations. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Floride</li><li>Minnesota</li><li>Tennessee</li></region></list><tree><country name="États-Unis"><region name="Floride"><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name></region><name sortKey="Baker, Matthew C" sort="Baker, Matthew C" uniqKey="Baker M" first="Matthew C." last="Baker">Matthew C. Baker</name><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name><name sortKey="Fang, John Y" sort="Fang, John Y" uniqKey="Fang J" first="John Y." last="Fang">John Y. Fang</name><name sortKey="Hutton, Michael L" sort="Hutton, Michael L" uniqKey="Hutton M" first="Michael L." last="Hutton">Michael L. Hutton</name><name sortKey="Josephs, Keith A" sort="Josephs, Keith A" uniqKey="Josephs K" first="Keith A." last="Josephs">Keith A. Josephs</name><name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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