Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: A clinical–pathological study
Identifieur interne : 003285 ( Main/Exploration ); précédent : 003284; suivant : 003286Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: A clinical–pathological study
Auteurs : Elan Louis [États-Unis] ; Carol Moskowitz [États-Unis] ; Michael Friez [États-Unis] ; Maria Amaya [États-Unis] ; Jean Paul G. Vonsattel [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-03.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Aged, Anatomic pathology, Ataxia, Autonomic Nervous System Diseases (diagnosis), Autonomic Nervous System Diseases (metabolism), Brain Stem (metabolism), Brain Stem (pathology), Carrier, Cerebellum (metabolism), Cerebellum (pathology), Cerebral Cortex (metabolism), Cerebral Cortex (pathology), Fatal Outcome, Fragile X Mental Retardation Protein (genetics), Fragile X Syndrome (diagnosis), Fragile X Syndrome (genetics), Fragile X Syndrome (metabolism), Fragile X syndrome, Humans, Inclusion, Intranuclear Inclusion Bodies (metabolism), Male, Nervous system diseases, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (metabolism), Parkinsonism, Pituitary Gland (metabolism), Pituitary Gland (pathology), Tremor, fragile X–associated tremor/ataxia syndrome, parkinsonism, pathology.
- MESH :
- chemical , genetics : Fragile X Mental Retardation Protein.
- diagnosis : Autonomic Nervous System Diseases, Fragile X Syndrome, Parkinsonian Disorders.
- genetics : Fragile X Syndrome.
- metabolism : Autonomic Nervous System Diseases, Brain Stem, Cerebellum, Cerebral Cortex, Fragile X Syndrome, Intranuclear Inclusion Bodies, Parkinsonian Disorders, Pituitary Gland.
- pathology : Brain Stem, Cerebellum, Cerebral Cortex, Pituitary Gland.
- Aged, Fatal Outcome, Humans, Male.
Abstract
A new tremor–ataxia syndrome, fragile X–associated tremor/ataxia syndrome (FXTAS), has been described among carriers of premutation expansions (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The prevalence of FMR1 premutation alleles has been reported to be 1 in 813 among men. Patients with FXTAS may also have features of parkinsonism. Postmortem findings have been described in eight patients with FXTAS and detailed descriptions of the pathological features of this syndrome have been published in two of these. We present a detailed description of the postmortem findings in a third patient. The patient had parkinsonism and was a carrier of a premutation expansion in the FMR1 gene. As in previous reports, the most prominent finding was the presence of eosinophilic nuclear inclusions in neurons and astrocytes, loss of Purkinje cells, and regional vacuolation of the cerebral white matter. As in one previous report, nuclear inclusions were also present in ependymal and choroid plexus cells. A new finding is that of nuclear inclusions in both the adeno‐ and neurohypophysis. These findings confirm the diffuse nature of this pathology. Further studies of clinical–pathological correlation in a larger sample of brains would provide additional insight into the mechanisms of the tremor, ataxia, and parkinsonism in these patients. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20753
Affiliations:
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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="2006-03">2006-03</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="420">420</biblScope><biblScope unit="page" to="425">425</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3B4A760D8F9D8D1FFE436EF1F68D210D58A74AFA</idno><idno type="DOI">10.1002/mds.20753</idno><idno type="ArticleID">MDS20753</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Anatomic pathology</term><term>Ataxia</term><term>Autonomic Nervous System Diseases (diagnosis)</term><term>Autonomic Nervous System Diseases (metabolism)</term><term>Brain Stem (metabolism)</term><term>Brain Stem (pathology)</term><term>Carrier</term><term>Cerebellum (metabolism)</term><term>Cerebellum (pathology)</term><term>Cerebral Cortex (metabolism)</term><term>Cerebral Cortex (pathology)</term><term>Fatal Outcome</term><term>Fragile X Mental Retardation Protein (genetics)</term><term>Fragile X Syndrome (diagnosis)</term><term>Fragile X Syndrome (genetics)</term><term>Fragile X Syndrome (metabolism)</term><term>Fragile X syndrome</term><term>Humans</term><term>Inclusion</term><term>Intranuclear Inclusion Bodies (metabolism)</term><term>Male</term><term>Nervous system diseases</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (metabolism)</term><term>Parkinsonism</term><term>Pituitary Gland (metabolism)</term><term>Pituitary Gland (pathology)</term><term>Tremor</term><term>fragile X–associated tremor/ataxia syndrome</term><term>parkinsonism</term><term>pathology</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fragile X Mental Retardation Protein</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Autonomic Nervous System Diseases</term><term>Fragile X Syndrome</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Fragile X Syndrome</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Autonomic Nervous System Diseases</term><term>Brain Stem</term><term>Cerebellum</term><term>Cerebral Cortex</term><term>Fragile X Syndrome</term><term>Intranuclear Inclusion Bodies</term><term>Parkinsonian Disorders</term><term>Pituitary Gland</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain Stem</term><term>Cerebellum</term><term>Cerebral Cortex</term><term>Pituitary Gland</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Fatal Outcome</term><term>Humans</term><term>Male</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Anatomopathologie</term><term>Ataxie</term><term>Inclusion</term><term>Parkinsonisme</term><term>Porteur</term><term>Système nerveux pathologie</term><term>Tremblement</term><term>X fragile syndrome</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A new tremor–ataxia syndrome, fragile X–associated tremor/ataxia syndrome (FXTAS), has been described among carriers of premutation expansions (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The prevalence of FMR1 premutation alleles has been reported to be 1 in 813 among men. Patients with FXTAS may also have features of parkinsonism. Postmortem findings have been described in eight patients with FXTAS and detailed descriptions of the pathological features of this syndrome have been published in two of these. We present a detailed description of the postmortem findings in a third patient. The patient had parkinsonism and was a carrier of a premutation expansion in the FMR1 gene. As in previous reports, the most prominent finding was the presence of eosinophilic nuclear inclusions in neurons and astrocytes, loss of Purkinje cells, and regional vacuolation of the cerebral white matter. As in one previous report, nuclear inclusions were also present in ependymal and choroid plexus cells. A new finding is that of nuclear inclusions in both the adeno‐ and neurohypophysis. These findings confirm the diffuse nature of this pathology. Further studies of clinical–pathological correlation in a larger sample of brains would provide additional insight into the mechanisms of the tremor, ataxia, and parkinsonism in these patients. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Caroline du Sud</li><li>État de New York</li></region><settlement><li>New York</li></settlement><orgName><li>Université Columbia</li></orgName></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Louis, Elan" sort="Louis, Elan" uniqKey="Louis E" first="Elan" last="Louis">Elan Louis</name></region><name sortKey="Amaya, Maria" sort="Amaya, Maria" uniqKey="Amaya M" first="Maria" last="Amaya">Maria Amaya</name><name sortKey="Friez, Michael" sort="Friez, Michael" uniqKey="Friez M" first="Michael" last="Friez">Michael Friez</name><name sortKey="Louis, Elan" sort="Louis, Elan" uniqKey="Louis E" first="Elan" last="Louis">Elan Louis</name><name sortKey="Louis, Elan" sort="Louis, Elan" uniqKey="Louis E" first="Elan" last="Louis">Elan Louis</name><name sortKey="Moskowitz, Carol" sort="Moskowitz, Carol" uniqKey="Moskowitz C" first="Carol" last="Moskowitz">Carol Moskowitz</name><name sortKey="Vonsattel, Jean Paul G" sort="Vonsattel, Jean Paul G" uniqKey="Vonsattel J" first="Jean Paul G." last="Vonsattel">Jean Paul G. Vonsattel</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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