Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier : A clinical-pathological study
Identifieur interne : 001B88 ( PascalFrancis/Corpus ); précédent : 001B87; suivant : 001B89Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier : A clinical-pathological study
Auteurs : Elan Louis ; Carol Moskowitz ; Michael Friez ; Maria Amaya ; Jean Paul G. VonsattelSource :
- Movement disorders [ 0885-3185 ] ; 2006.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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 I (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.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 06-0208456 INIST |
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ET : | Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier : A clinical-pathological study |
AU : | LOUIS (Elan); MOSKOWITZ (Carol); FRIEZ (Michael); AMAYA (Maria); VONSATTEL (Jean Paul G.) |
AF : | Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University/New York, New York/Etats-Unis (1 aut.); Division of Movement Disorders, Department of Neurology, College of Physicians and Surgeons, Columbia University/New York, New York/Etats-Unis (1 aut., 2 aut.); Taub Institute for Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons. Columbia University/New York, New York/Etats-Unis (1 aut., 4 aut., 5 aut.); Molecular Diagnostic Laboratory, Greenwood Genetic Center/Greenwood, South Carolina/Etats-Unis (3 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 3; Pp. 420-425; Bibl. 7 ref. |
LA : | Anglais |
EA : | 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 I (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. |
CC : | 002B17; 002B17G; 002B17H |
FD : | Système nerveux pathologie; Parkinsonisme; X fragile syndrome; Tremblement; Ataxie; Inclusion; Porteur; Anatomopathologie |
FG : | Fragilité chromosomique; Mouvement involontaire; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie |
ED : | Nervous system diseases; Parkinsonism; Fragile X syndrome; Tremor; Ataxia; Inclusion; Carrier; Anatomic pathology |
EG : | Chromosome fragility; Involuntary movement; Neurological disorder; Cerebral disorder; Central nervous system disease |
SD : | Sistema nervioso patología; Parkinson síndrome; X frágil síndrome; Temblor; Ataxia; Inclusión; Portador; Anatomía patológica |
LO : | INIST-20953.354000142800450240 |
ID : | 06-0208456 |
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Pascal:06-0208456Le document en format XML
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<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 I (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.</div>
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<ET>Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier : A clinical-pathological study</ET>
<AU>LOUIS (Elan); MOSKOWITZ (Carol); FRIEZ (Michael); AMAYA (Maria); VONSATTEL (Jean Paul G.)</AU>
<AF>Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University/New York, New York/Etats-Unis (1 aut.); Division of Movement Disorders, Department of Neurology, College of Physicians and Surgeons, Columbia University/New York, New York/Etats-Unis (1 aut., 2 aut.); Taub Institute for Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons. Columbia University/New York, New York/Etats-Unis (1 aut., 4 aut., 5 aut.); Molecular Diagnostic Laboratory, Greenwood Genetic Center/Greenwood, South Carolina/Etats-Unis (3 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 3; Pp. 420-425; Bibl. 7 ref.</SO>
<LA>Anglais</LA>
<EA>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 I (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.</EA>
<CC>002B17; 002B17G; 002B17H</CC>
<FD>Système nerveux pathologie; Parkinsonisme; X fragile syndrome; Tremblement; Ataxie; Inclusion; Porteur; Anatomopathologie</FD>
<FG>Fragilité chromosomique; Mouvement involontaire; Trouble neurologique; Encéphale pathologie; Système nerveux central pathologie</FG>
<ED>Nervous system diseases; Parkinsonism; Fragile X syndrome; Tremor; Ataxia; Inclusion; Carrier; Anatomic pathology</ED>
<EG>Chromosome fragility; Involuntary movement; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Sistema nervioso patología; Parkinson síndrome; X frágil síndrome; Temblor; Ataxia; Inclusión; Portador; Anatomía patológica</SD>
<LO>INIST-20953.354000142800450240</LO>
<ID>06-0208456</ID>
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