MovDisordV3, PascalFrancis, Curation, bibRecord, 002A79

Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

Identifieur interne : 002A79 ( PascalFrancis/Curation ); précédent : 002A78; suivant : 002A80

Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

Auteurs : Alisdair Mcneill [Royaume-Uni] ; Raquel Duran [Royaume-Uni] ; Christos Proukakis [Royaume-Uni] ; Jose Bras [Royaume-Uni] ; Derralyn Hughes [Royaume-Uni] ; Atuhl Mehta [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Anthony H. V. Schapira [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0183708

Descripteurs français

Pascal (Inist)
- Trouble de l'odorat, Trouble cognitif, Sphingolipidose héréditaire de Gaucher, Maladie de Parkinson, Pathologie du système nerveux, Homme, Porteur, Lipide.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Carrier, Cognitive disorder, Gaucher disease, Human, Lipids, Nervous system diseases, Olfactory disorder, Parkinson disease.

Abstract

The objective of this study was to assess a cohort of Gaucher disease patients and their heterozygous carrier relatives for potential clinical signs of early neurodegeneration. Gaucher disease patients (n = 30), heterozygous glucocerebrosidase mutation carriers (n = 30), and mutation-negative controls matched by age, sex, and ethnicity (n = 30) were recruited. Assessment was done for olfactory function (University of Pennsylvania Smell Identification Test), cognitive function (Mini-Mental State Examination, Montreal Cognitive Assessment), rapid eye movement sleep disorder, autonomic symptoms, and parkinsonian motor signs (Unified Parkinson's Disease Rating Scale part III, Purdue pegboard). Olfactory function scores were significantly lower in Gaucher disease patients (P = .010) and heterozygous carriers (P < .001) than in controls. Cognitive assessment scores were significantly lower in Gaucher disease patients (P = .002) and carriers (P = .002) than in controls. Unified Parkinson's Disease Rating Scale motor subscale scores were significantly higher in Gaucher disease patients (P < .001) and heterozygotes (P = .0010) than in controls. There was no difference in scores for symptoms of rapid eye movement sleep disorder or autonomic dysfunction. Impairment of olfaction, cognition, and parkinsonian motor signs occurs more frequently in Gaucher disease patients and carriers than in controls, which may indicate the early stages of neurodegeneration.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 27`
A06				`@2 4`
A08	`01`	`1`	`ENG`	`@1 Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers`
A11	`01`	`1`		`@1 MCNEILL (Alisdair)`
A11	`02`	`1`		`@1 DURAN (Raquel)`
A11	`03`	`1`		`@1 PROUKAKIS (Christos)`
A11	`04`	`1`		`@1 BRAS (Jose)`
A11	`05`	`1`		`@1 HUGHES (Derralyn)`
A11	`06`	`1`		`@1 MEHTA (Atuhl)`
A11	`07`	`1`		`@1 HARDY (John)`
A11	`08`	`1`		`@1 WOOD (Nicholas W.)`
A11	`09`	`1`		`@1 SCHAPIRA (Anthony H. V.)`
A14	`01`			`@1 Department of Clinical Neuroscience, University College London (UCL) Institute of Neurology, Royal Free Hospital @2 London @3 GBR @Z 1 aut. @Z 3 aut. @Z 9 aut.`
A14	`02`			`@1 Department of Molecular Neuroscience, UCL Institute of Neurology @2 London @3 GBR @Z 2 aut. @Z 4 aut. @Z 7 aut. @Z 8 aut.`
A14	`03`			`@1 Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital @2 London @3 GBR @Z 5 aut. @Z 6 aut.`
A20				`@1 526-532`
A21				`@1 2012`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000194678450140`
A44				`@0 0000 @1 © 2012 INIST-CNRS. All rights reserved.`
A45				`@0 28 ref.`
A47	`01`	`1`		`@0 12-0183708`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 The objective of this study was to assess a cohort of Gaucher disease patients and their heterozygous carrier relatives for potential clinical signs of early neurodegeneration. Gaucher disease patients (n = 30), heterozygous glucocerebrosidase mutation carriers (n = 30), and mutation-negative controls matched by age, sex, and ethnicity (n = 30) were recruited. Assessment was done for olfactory function (University of Pennsylvania Smell Identification Test), cognitive function (Mini-Mental State Examination, Montreal Cognitive Assessment), rapid eye movement sleep disorder, autonomic symptoms, and parkinsonian motor signs (Unified Parkinson's Disease Rating Scale part III, Purdue pegboard). Olfactory function scores were significantly lower in Gaucher disease patients (P = .010) and heterozygous carriers (P < .001) than in controls. Cognitive assessment scores were significantly lower in Gaucher disease patients (P = .002) and carriers (P = .002) than in controls. Unified Parkinson's Disease Rating Scale motor subscale scores were significantly higher in Gaucher disease patients (P < .001) and heterozygotes (P = .0010) than in controls. There was no difference in scores for symptoms of rapid eye movement sleep disorder or autonomic dysfunction. Impairment of olfaction, cognition, and parkinsonian motor signs occurs more frequently in Gaucher disease patients and carriers than in controls, which may indicate the early stages of neurodegeneration.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Trouble de l'odorat @5 01`
C03	`01`	`X`	`ENG`	`@0 Olfactory disorder @5 01`
C03	`01`	`X`	`SPA`	`@0 Trastorno olfatorio @5 01`
C03	`02`	`X`	`FRE`	`@0 Trouble cognitif @5 02`
C03	`02`	`X`	`ENG`	`@0 Cognitive disorder @5 02`
C03	`02`	`X`	`SPA`	`@0 Trastorno cognitivo @5 02`
C03	`03`	`X`	`FRE`	`@0 Sphingolipidose héréditaire de Gaucher @5 03`
C03	`03`	`X`	`ENG`	`@0 Gaucher disease @5 03`
C03	`03`	`X`	`SPA`	`@0 Esfingolipidosis hereditaria Gaucher @5 03`
C03	`04`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 04`
C03	`04`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 04`
C03	`04`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 04`
C03	`05`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 05`
C03	`05`	`X`	`ENG`	`@0 Nervous system diseases @5 05`
C03	`05`	`X`	`SPA`	`@0 Sistema nervioso patología @5 05`
C03	`06`	`X`	`FRE`	`@0 Homme @5 09`
C03	`06`	`X`	`ENG`	`@0 Human @5 09`
C03	`06`	`X`	`SPA`	`@0 Hombre @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 Lipide @5 78`
C03	`08`	`X`	`ENG`	`@0 Lipids @5 78`
C03	`08`	`X`	`SPA`	`@0 Lípido @5 78`
C07	`01`	`X`	`FRE`	`@0 Trouble neurologique @5 38`
C07	`01`	`X`	`ENG`	`@0 Neurological disorder @5 38`
C07	`01`	`X`	`SPA`	`@0 Trastorno neurológico @5 38`
C07	`02`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 39`
C07	`02`	`X`	`ENG`	`@0 Cerebral disorder @5 39`
C07	`02`	`X`	`SPA`	`@0 Encéfalo patología @5 39`
C07	`03`	`X`	`FRE`	`@0 Enzymopathie @5 40`
C07	`03`	`X`	`ENG`	`@0 Enzymopathy @5 40`
C07	`03`	`X`	`SPA`	`@0 Enzimopatía @5 40`
C07	`04`	`X`	`FRE`	`@0 Lipoïdose @5 41`
C07	`04`	`X`	`ENG`	`@0 Lipoidosis @5 41`
C07	`04`	`X`	`SPA`	`@0 Lipoidosis @5 41`
C07	`05`	`X`	`FRE`	`@0 Maladie héréditaire @5 42`
C07	`05`	`X`	`ENG`	`@0 Genetic disease @5 42`
C07	`05`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 42`
C07	`06`	`X`	`FRE`	`@0 Maladie métabolique @5 43`
C07	`06`	`X`	`ENG`	`@0 Metabolic diseases @5 43`
C07	`06`	`X`	`SPA`	`@0 Metabolismo patología @5 43`
C07	`07`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 44`
C07	`07`	`X`	`ENG`	`@0 Central nervous system disease @5 44`
C07	`07`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 44`
C07	`08`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 45`
C07	`08`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 45`
C07	`08`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 45`
C07	`09`	`X`	`FRE`	`@0 Maladie dégénérative @5 46`
C07	`09`	`X`	`ENG`	`@0 Degenerative disease @5 46`
C07	`09`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 46`
N21				`@1 142`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000235

Links to Exploration step

Pascal:12-0183708

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers</title>
<author><name sortKey="Mcneill, Alisdair" sort="Mcneill, Alisdair" uniqKey="Mcneill A" first="Alisdair" last="Mcneill">Alisdair Mcneill</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Neuroscience, University College London (UCL) Institute of Neurology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Duran, Raquel" sort="Duran, Raquel" uniqKey="Duran R" first="Raquel" last="Duran">Raquel Duran</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Proukakis, Christos" sort="Proukakis, Christos" uniqKey="Proukakis C" first="Christos" last="Proukakis">Christos Proukakis</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Neuroscience, University College London (UCL) Institute of Neurology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Hughes, Derralyn" sort="Hughes, Derralyn" uniqKey="Hughes D" first="Derralyn" last="Hughes">Derralyn Hughes</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Mehta, Atuhl" sort="Mehta, Atuhl" uniqKey="Mehta A" first="Atuhl" last="Mehta">Atuhl Mehta</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Schapira, Anthony H V" sort="Schapira, Anthony H V" uniqKey="Schapira A" first="Anthony H. V." last="Schapira">Anthony H. V. Schapira</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Neuroscience, University College London (UCL) Institute of Neurology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">12-0183708</idno>
<date when="2012">2012</date>
<idno type="stanalyst">PASCAL 12-0183708 INIST</idno>
<idno type="RBID">Pascal:12-0183708</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000235</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002A79</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers</title>
<author><name sortKey="Mcneill, Alisdair" sort="Mcneill, Alisdair" uniqKey="Mcneill A" first="Alisdair" last="Mcneill">Alisdair Mcneill</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Neuroscience, University College London (UCL) Institute of Neurology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Duran, Raquel" sort="Duran, Raquel" uniqKey="Duran R" first="Raquel" last="Duran">Raquel Duran</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Proukakis, Christos" sort="Proukakis, Christos" uniqKey="Proukakis C" first="Christos" last="Proukakis">Christos Proukakis</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Neuroscience, University College London (UCL) Institute of Neurology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Hughes, Derralyn" sort="Hughes, Derralyn" uniqKey="Hughes D" first="Derralyn" last="Hughes">Derralyn Hughes</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Mehta, Atuhl" sort="Mehta, Atuhl" uniqKey="Mehta A" first="Atuhl" last="Mehta">Atuhl Mehta</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
<author><name sortKey="Schapira, Anthony H V" sort="Schapira, Anthony H V" uniqKey="Schapira A" first="Anthony H. V." last="Schapira">Anthony H. V. Schapira</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Clinical Neuroscience, University College London (UCL) Institute of Neurology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Carrier</term>
<term>Cognitive disorder</term>
<term>Gaucher disease</term>
<term>Human</term>
<term>Lipids</term>
<term>Nervous system diseases</term>
<term>Olfactory disorder</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Trouble de l'odorat</term>
<term>Trouble cognitif</term>
<term>Sphingolipidose héréditaire de Gaucher</term>
<term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Homme</term>
<term>Porteur</term>
<term>Lipide</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The objective of this study was to assess a cohort of Gaucher disease patients and their heterozygous carrier relatives for potential clinical signs of early neurodegeneration. Gaucher disease patients (n = 30), heterozygous glucocerebrosidase mutation carriers (n = 30), and mutation-negative controls matched by age, sex, and ethnicity (n = 30) were recruited. Assessment was done for olfactory function (University of Pennsylvania Smell Identification Test), cognitive function (Mini-Mental State Examination, Montreal Cognitive Assessment), rapid eye movement sleep disorder, autonomic symptoms, and parkinsonian motor signs (Unified Parkinson's Disease Rating Scale part III, Purdue pegboard). Olfactory function scores were significantly lower in Gaucher disease patients (P = .010) and heterozygous carriers (P < .001) than in controls. Cognitive assessment scores were significantly lower in Gaucher disease patients (P = .002) and carriers (P = .002) than in controls. Unified Parkinson's Disease Rating Scale motor subscale scores were significantly higher in Gaucher disease patients (P < .001) and heterozygotes (P = .0010) than in controls. There was no difference in scores for symptoms of rapid eye movement sleep disorder or autonomic dysfunction. Impairment of olfaction, cognition, and parkinsonian motor signs occurs more frequently in Gaucher disease patients and carriers than in controls, which may indicate the early stages of neurodegeneration.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>27</s2>
</fA05>
<fA06><s2>4</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>MCNEILL (Alisdair)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>DURAN (Raquel)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>PROUKAKIS (Christos)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>BRAS (Jose)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>HUGHES (Derralyn)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>MEHTA (Atuhl)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>HARDY (John)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>WOOD (Nicholas W.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>SCHAPIRA (Anthony H. V.)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Clinical Neuroscience, University College London (UCL) Institute of Neurology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Molecular Neuroscience, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
</fA14>
<fA20><s1>526-532</s1>
</fA20>
<fA21><s1>2012</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000194678450140</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2012 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>28 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>12-0183708</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>The objective of this study was to assess a cohort of Gaucher disease patients and their heterozygous carrier relatives for potential clinical signs of early neurodegeneration. Gaucher disease patients (n = 30), heterozygous glucocerebrosidase mutation carriers (n = 30), and mutation-negative controls matched by age, sex, and ethnicity (n = 30) were recruited. Assessment was done for olfactory function (University of Pennsylvania Smell Identification Test), cognitive function (Mini-Mental State Examination, Montreal Cognitive Assessment), rapid eye movement sleep disorder, autonomic symptoms, and parkinsonian motor signs (Unified Parkinson's Disease Rating Scale part III, Purdue pegboard). Olfactory function scores were significantly lower in Gaucher disease patients (P = .010) and heterozygous carriers (P < .001) than in controls. Cognitive assessment scores were significantly lower in Gaucher disease patients (P = .002) and carriers (P = .002) than in controls. Unified Parkinson's Disease Rating Scale motor subscale scores were significantly higher in Gaucher disease patients (P < .001) and heterozygotes (P = .0010) than in controls. There was no difference in scores for symptoms of rapid eye movement sleep disorder or autonomic dysfunction. Impairment of olfaction, cognition, and parkinsonian motor signs occurs more frequently in Gaucher disease patients and carriers than in controls, which may indicate the early stages of neurodegeneration.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Trouble de l'odorat</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Olfactory disorder</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Trastorno olfatorio</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Trouble cognitif</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Cognitive disorder</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Trastorno cognitivo</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Sphingolipidose héréditaire de Gaucher</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Gaucher disease</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Esfingolipidosis hereditaria Gaucher</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Maladie de Parkinson</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Homme</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Human</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Hombre</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>Lipide</s0>
<s5>78</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Lipids</s0>
<s5>78</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Lípido</s0>
<s5>78</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Enzymopathie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Enzymopathy</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enzimopatía</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Lipoïdose</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Lipoidosis</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Lipoidosis</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Maladie métabolique</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Metabolic diseases</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Metabolismo patología</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>46</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>46</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>46</s5>
</fC07>
<fN21><s1>142</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002A79 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Curation/biblio.hfd -nk 002A79 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Curation
   |type=    RBID
   |clé=     Pascal:12-0183708
   |texte=   Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri