MovDisordV3, Main, Exploration, bibRecord, 001098

Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

Identifieur interne : 001098 ( Main/Exploration ); précédent : 001097; suivant : 001099

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 :
- Aged, Aged, 80 and over, Carrier, Case-Control Studies, Cognition Disorders (diagnosis), Cognition Disorders (etiology), Cognition Disorders (genetics), Cognitive disorder, Female, Gaucher Disease (complications), Gaucher Disease (genetics), Gaucher disease, Glucosylceramidase (genetics), Human, Humans, Lipids, Male, Middle Aged, Mutation (genetics), Nervous system diseases, Neuropsychological Tests, Odors, Olfaction Disorders (diagnosis), Olfaction Disorders (etiology), Olfaction Disorders (genetics), Olfactory disorder, Parkinson disease, Severity of Illness Index, Smell (physiology), Statistics as Topic, Statistics, Nonparametric.
MESH :
- chemical , genetics : Glucosylceramidase.
- complications : Gaucher Disease.
- diagnosis : Cognition Disorders, Olfaction Disorders.
- etiology : Cognition Disorders, Olfaction Disorders.
- genetics : Cognition Disorders, Gaucher Disease, Mutation, Olfaction Disorders.
- physiology : Smell.
- Aged, Aged, 80 and over, Case-Control Studies, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Odors, Severity of Illness Index, Statistics as Topic, Statistics, Nonparametric.

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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188387

Affiliations:

Le document en format XML

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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term>
<term>Aged, 80 and over</term>
<term>Carrier</term>
<term>Case-Control Studies</term>
<term>Cognition Disorders (diagnosis)</term>
<term>Cognition Disorders (etiology)</term>
<term>Cognition Disorders (genetics)</term>
<term>Cognitive disorder</term>
<term>Female</term>
<term>Gaucher Disease (complications)</term>
<term>Gaucher Disease (genetics)</term>
<term>Gaucher disease</term>
<term>Glucosylceramidase (genetics)</term>
<term>Human</term>
<term>Humans</term>
<term>Lipids</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Nervous system diseases</term>
<term>Neuropsychological Tests</term>
<term>Odors</term>
<term>Olfaction Disorders (diagnosis)</term>
<term>Olfaction Disorders (etiology)</term>
<term>Olfaction Disorders (genetics)</term>
<term>Olfactory disorder</term>
<term>Parkinson disease</term>
<term>Severity of Illness Index</term>
<term>Smell (physiology)</term>
<term>Statistics as Topic</term>
<term>Statistics, Nonparametric</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Gaucher Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cognition Disorders</term>
<term>Olfaction Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Cognition Disorders</term>
<term>Olfaction Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term>
<term>Gaucher Disease</term>
<term>Mutation</term>
<term>Olfaction Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Smell</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Aged, 80 and over</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neuropsychological Tests</term>
<term>Odors</term>
<term>Severity of Illness Index</term>
<term>Statistics as Topic</term>
<term>Statistics, Nonparametric</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>
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<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>
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<name sortKey="Mehta, Atuhl" sort="Mehta, Atuhl" uniqKey="Mehta A" first="Atuhl" last="Mehta">Atuhl Mehta</name>
<name sortKey="Proukakis, Christos" sort="Proukakis, Christos" uniqKey="Proukakis C" first="Christos" last="Proukakis">Christos Proukakis</name>
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<name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
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Movement Disorders (revue)

Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

Hyposmia and Cognitive Impairment in Gaucher Disease Patients and Carriers

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	Movement Disorders (revue)
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