ParkinsonFranceV1, Ncbi, Curation, bibRecord, 000926

A multidisciplinary study of patients with early-onset PD with and without parkin mutations

Identifieur interne : 000926 ( Ncbi/Curation ); précédent : 000925; suivant : 000927

A multidisciplinary study of patients with early-onset PD with and without parkin mutations

Auteurs : E. Lohmann ; S. Thobois ; S. Lesage ; E. Broussolle ; S Tezenas Du Montcel ; M J. Ribeiro ; P. Remy ; A. Pelissolo ; B. Dubois ; L. Mallet ; P. Pollak ; Yves Agid [France] ; A. Brice

Source :

Neurology [ 0028-3878 ] ; 2009.

RBID : PMC:2677494

English descriptors

KwdEn :
- Adult, Age of Onset, Aged, Antiparkinson Agents (administration & dosage), Antiparkinson Agents (adverse effects), Cognition Disorders (diagnosis), Cognition Disorders (epidemiology), Cognition Disorders (genetics), Comorbidity, DNA Mutational Analysis, Depressive Disorder (diagnosis), Depressive Disorder (epidemiology), Depressive Disorder (genetics), Disease Progression, Drug Resistance (genetics), Female, Genetic Predisposition to Disease (genetics), Genetic Testing, Genotype, Humans, Male, Middle Aged, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson Disease (psychology), Severity of Illness Index, Ubiquitin-Protein Ligases (genetics).
MESH :
- chemical , administration & dosage : Antiparkinson Agents.
- chemical , adverse effects : Antiparkinson Agents.
- diagnosis : Cognition Disorders, Depressive Disorder.
- epidemiology : Cognition Disorders, Depressive Disorder, Parkinson Disease.
- genetics : Cognition Disorders, Depressive Disorder, Drug Resistance, Genetic Predisposition to Disease, Parkinson Disease, Ubiquitin-Protein Ligases.
- psychology : Parkinson Disease.
- Adult, Age of Onset, Aged, Comorbidity, DNA Mutational Analysis, Disease Progression, Female, Genetic Testing, Genotype, Humans, Male, Middle Aged, Severity of Illness Index.

Abstract

Objective:

To establish phenotype–genotype correlations in early-onset Parkinson disease (EOPD), we performed neurologic, neuropsychological, and psychiatric evaluations in a series of patients with and without parkin mutations.

Background:

Parkin (PARK2) gene mutations are the major cause of autosomal recessive parkinsonism. The usual clinical features are early-onset typical PD with a slow clinical course, an excellent response to low doses of levodopa, frequent treatment-induced dyskinesias, and the absence of dementia.

Methods:

A total of 44 patients with EOPD (21 with and 23 without parkin mutations) and 9 unaffected single heterozygous carriers of parkin mutations underwent extensive clinical, neuropsychological, and psychiatric examinations.

Results:

The neurologic, neuropsychological, and psychiatric features were similar in all patients, except for significantly lower daily doses of dopaminergic treatment and greater delay in the development of levodopa-related fluctuations (p < 0.05) in parkin mutation carriers compared to noncarriers. There was no major difference between the two groups in terms of general cognitive efficiency. Psychiatric manifestations (depression) were more frequent in patients than in healthy single heterozygous parkin carriers but did not differ between the two groups of patients.

Conclusion:

Carriers of parkin mutations are clinically indistinguishable from other patients with young-onset Parkinson disease (PD) on an individual basis. Severe generalized loss of dopaminergic neurons in the substantia nigra pars compacta in these patients is associated with an excellent response to low doses of dopa-equivalent and delayed fluctuations, but cognitive impairment and special behavioral or psychiatric symptoms were not more severe than in other patients with early-onset PD.

GLOSSARY

CPRS

= Comprehensive Psychopathological Rating Scale;

EOPD

= early-onset Parkinson disease;

FAB

= Frontal Assessment Battery;

MADRS

= Montgomery-Asberg Depression Rating Scale;

MDRS

= Mattis Dementia Rating Scale;

MINI

= Mini International Neuropsychiatric Interview;

MMSE

= Mini-Mental State Examination;

TMT

= Trail Making Test;

UPDRS

= Unified Parkinson's Disease Rating Scale;

WCST

= Wisconsin Card Sorting Test.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677494

DOI: 10.1212/01.wnl.0000327098.86861.d4
PubMed: 18987353
PubMed Central: 2677494

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Le document en format XML

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<series><title level="j">Neurology</title>
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<term>Age of Onset</term>
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<term>Antiparkinson Agents (administration & dosage)</term>
<term>Antiparkinson Agents (adverse effects)</term>
<term>Cognition Disorders (diagnosis)</term>
<term>Cognition Disorders (epidemiology)</term>
<term>Cognition Disorders (genetics)</term>
<term>Comorbidity</term>
<term>DNA Mutational Analysis</term>
<term>Depressive Disorder (diagnosis)</term>
<term>Depressive Disorder (epidemiology)</term>
<term>Depressive Disorder (genetics)</term>
<term>Disease Progression</term>
<term>Drug Resistance (genetics)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genetic Testing</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (psychology)</term>
<term>Severity of Illness Index</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Antiparkinson Agents</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cognition Disorders</term>
<term>Depressive Disorder</term>
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<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Cognition Disorders</term>
<term>Depressive Disorder</term>
<term>Parkinson Disease</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term>
<term>Depressive Disorder</term>
<term>Drug Resistance</term>
<term>Genetic Predisposition to Disease</term>
<term>Parkinson Disease</term>
<term>Ubiquitin-Protein Ligases</term>
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<term>Age of Onset</term>
<term>Aged</term>
<term>Comorbidity</term>
<term>DNA Mutational Analysis</term>
<term>Disease Progression</term>
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<term>Genetic Testing</term>
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<front><div type="abstract" xml:lang="en"><sec><title>Objective:</title>
<p>To establish phenotype–genotype correlations in early-onset Parkinson disease (EOPD), we performed neurologic, neuropsychological, and psychiatric evaluations in a series of patients with and without parkin mutations.</p>
</sec>
<sec><title>Background:</title>
<p>Parkin (<italic>PARK2</italic>
) gene mutations are the major cause of autosomal recessive parkinsonism. The usual clinical features are early-onset typical PD with a slow clinical course, an excellent response to low doses of levodopa, frequent treatment-induced dyskinesias, and the absence of dementia.</p>
</sec>
<sec><title>Methods:</title>
<p>A total of 44 patients with EOPD (21 with and 23 without parkin mutations) and 9 unaffected single heterozygous carriers of parkin mutations underwent extensive clinical, neuropsychological, and psychiatric examinations.</p>
</sec>
<sec><title>Results:</title>
<p>The neurologic, neuropsychological, and psychiatric features were similar in all patients, except for significantly lower daily doses of dopaminergic treatment and greater delay in the development of levodopa-related fluctuations (<italic>p</italic>
 < 0.05) in parkin mutation carriers compared to noncarriers. There was no major difference between the two groups in terms of general cognitive efficiency. Psychiatric manifestations (depression) were more frequent in patients than in healthy single heterozygous parkin carriers but did not differ between the two groups of patients.</p>
</sec>
<sec><title>Conclusion:</title>
<p>Carriers of parkin mutations are clinically indistinguishable from other patients with young-onset Parkinson disease (PD) on an individual basis. Severe generalized loss of dopaminergic neurons in the substantia nigra pars compacta in these patients is associated with an excellent response to low doses of dopa-equivalent and delayed fluctuations, but cognitive impairment and special behavioral or psychiatric symptoms were not more severe than in other patients with early-onset PD.</p>
</sec>
<sec><title>GLOSSARY</title>
<def-list list-type="abr"><def-item><term><bold>CPRS</bold>
</term>
<def><p> = Comprehensive Psychopathological Rating Scale; </p>
</def>
</def-item>
<def-item><term><bold>EOPD</bold>
</term>
<def><p> = early-onset Parkinson disease; </p>
</def>
</def-item>
<def-item><term><bold>FAB</bold>
</term>
<def><p> = Frontal Assessment Battery; </p>
</def>
</def-item>
<def-item><term><bold>MADRS</bold>
</term>
<def><p> = Montgomery-Asberg Depression Rating Scale; </p>
</def>
</def-item>
<def-item><term><bold>MDRS</bold>
</term>
<def><p> = Mattis Dementia Rating Scale; </p>
</def>
</def-item>
<def-item><term><bold>MINI</bold>
</term>
<def><p> = Mini International Neuropsychiatric Interview; </p>
</def>
</def-item>
<def-item><term><bold>MMSE</bold>
</term>
<def><p> = Mini-Mental State Examination; </p>
</def>
</def-item>
<def-item><term><bold>TMT</bold>
</term>
<def><p> = Trail Making Test; </p>
</def>
</def-item>
<def-item><term><bold>UPDRS</bold>
</term>
<def><p> = Unified Parkinson's Disease Rating Scale; </p>
</def>
</def-item>
<def-item><term><bold>WCST</bold>
</term>
<def><p> = Wisconsin Card Sorting Test.</p>
</def>
</def-item>
</def-list>
</sec>
</div>
</front>
</TEI>
</record>

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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

A multidisciplinary study of patients with early-onset PD with and without parkin mutations

A multidisciplinary study of patients with early-onset PD with and without parkin mutations

Source :

English descriptors

Abstract

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

Links to Exploration step

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