MovDisordV3, PascalFrancis, Corpus, bibRecord, 001B88

Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier : A clinical-pathological study

Identifieur interne : 001B88 ( PascalFrancis/Corpus ); précédent : 001B87; suivant : 001B89

Parkinsonism, 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. Vonsattel

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0208456

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinsonisme, X fragile syndrome, Tremblement, Ataxie, Inclusion, Porteur, Anatomopathologie.

English descriptors

KwdEn :
- Anatomic pathology, Ataxia, Carrier, Fragile X syndrome, Inclusion, Nervous system diseases, Parkinsonism, Tremor.

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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A08	`01`	`1`	`ENG`	`@1 Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier : A clinical-pathological study`
A11	`01`	`1`		`@1 LOUIS (Elan)`
A11	`02`	`1`		`@1 MOSKOWITZ (Carol)`
A11	`03`	`1`		`@1 FRIEZ (Michael)`
A11	`04`	`1`		`@1 AMAYA (Maria)`
A11	`05`	`1`		`@1 VONSATTEL (Jean Paul G.)`
A14	`01`			`@1 Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University @2 New York, New York @3 USA @Z 1 aut.`
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A14	`03`			`@1 Taub Institute for Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons. Columbia University @2 New York, New York @3 USA @Z 1 aut. @Z 4 aut. @Z 5 aut.`
A14	`04`			`@1 Molecular Diagnostic Laboratory, Greenwood Genetic Center @2 Greenwood, South Carolina @3 USA @Z 3 aut.`
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A21				`@1 2006`
A23	`01`			`@0 ENG`
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A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
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C03	`02`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 02`
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C03	`04`	`X`	`SPA`	`@0 Temblor @5 04`
C03	`05`	`X`	`FRE`	`@0 Ataxie @5 05`
C03	`05`	`X`	`ENG`	`@0 Ataxia @5 05`
C03	`05`	`X`	`SPA`	`@0 Ataxia @5 05`
C03	`06`	`X`	`FRE`	`@0 Inclusion @5 09`
C03	`06`	`X`	`ENG`	`@0 Inclusion @5 09`
C03	`06`	`X`	`SPA`	`@0 Inclusión @5 09`
C03	`07`	`X`	`FRE`	`@0 Porteur @5 10`
C03	`07`	`X`	`ENG`	`@0 Carrier @5 10`
C03	`07`	`X`	`SPA`	`@0 Portador @5 10`
C03	`08`	`X`	`FRE`	`@0 Anatomopathologie @5 11`
C03	`08`	`X`	`ENG`	`@0 Anatomic pathology @5 11`
C03	`08`	`X`	`SPA`	`@0 Anatomía patológica @5 11`
C07	`01`	`X`	`FRE`	`@0 Fragilité chromosomique @5 37`
C07	`01`	`X`	`ENG`	`@0 Chromosome fragility @5 37`
C07	`01`	`X`	`SPA`	`@0 Fragilidad cromosómica @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
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C07	`05`	`X`	`ENG`	`@0 Central nervous system disease @5 41`
C07	`05`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 41`
N21				`@1 135`
N44	`01`			`@1 OTO`
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Format Inist (serveur)

NO :	PASCAL 06-0208456 INIST
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:06-0208456

Le 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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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>X fragile syndrome</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Fragile X syndrome</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>X frágil síndrome</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Tremblement</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Tremor</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Temblor</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Ataxie</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Ataxia</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Ataxia</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Inclusion</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Inclusion</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Inclusión</s0>
<s5>09</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Porteur</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Carrier</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Portador</s0>
<s5>10</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Anatomopathologie</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Anatomic pathology</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Anatomía patológica</s0>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Fragilité chromosomique</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Chromosome fragility</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Fragilidad cromosómica</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>41</s5>
</fC07>
<fN21><s1>135</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 06-0208456 INIST</NO>
<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>
</server>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier : A clinical-pathological study

Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier : A clinical-pathological study

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