Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation.
Identifieur interne : 000607 ( Ncbi/Checkpoint ); précédent : 000606; suivant : 000608Clinical features of parkinsonian patients with the alpha-synuclein (G209A) mutation.
Auteurs : S. Bostantjopoulou [Grèce] ; Z. Katsarou ; A. Papadimitriou ; V. Veletza ; G. Hatzigeorgiou ; A. LeesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2001.
Descripteurs français
- Wicri :
- geographic : Grèce.
English descriptors
- KwdEn :
- Adult, Age of Onset, Cognition Disorders (diagnosis), Cognition Disorders (genetics), Diagnosis, Differential, Disease Progression, Female, Greece (epidemiology), Humans, Male, Middle Aged, Mutation (genetics), Nerve Tissue Proteins (genetics), Neuropsychological Tests, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Parkinson Disease (psychology), Phenotype, Phosphoproteins (genetics), Syndrome, Synucleins, alpha-Synuclein.
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Phosphoproteins.
- geographic , epidemiology : Greece.
- diagnosis : Cognition Disorders, Parkinson Disease.
- genetics : Cognition Disorders, Mutation, Parkinson Disease.
- physiopathology : Parkinson Disease.
- psychology : Parkinson Disease.
- Adult, Age of Onset, Diagnosis, Differential, Disease Progression, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Phenotype, Syndrome, Synucleins, alpha-Synuclein.
Abstract
The motor and neuropsychological abnormalities in eight Greek patients with Parkinson's disease (PD) carrying the alpha-synuclein gene mutation (G209A) were studied. These patients (five men, three women) belonged to six different families. Their symptoms started between 32-50 years of age (mean +/- SD, 39.7 +/- 7.6 years) and they had a mean disease duration of 5.4 +/- 2.1 years (range, 2-9 years) at the time of examination. Rigidity and bradykinesia predominated both at disease onset as well as in the later stages and rest tremor was relatively uncommon. Neuropsychological assessment showed that one patient was mildly demented while another had impairment in memory, visuoconstructive abilities, and executive function. Depression was present in only one patient. Our findings indicate that genetic forms of parkinsonism share common motor and cognitive characteristics with sporadic PD but raise the possibility that greater cognitive impairment and the relative rarity of tremor may be distinctive features worthy of further investigation.
PubMed: 11748731
Affiliations:
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Lees</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Cognition Disorders (diagnosis)</term><term>Cognition Disorders (genetics)</term><term>Diagnosis, Differential</term><term>Disease Progression</term><term>Female</term><term>Greece (epidemiology)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Neuropsychological Tests</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Parkinson Disease (psychology)</term><term>Phenotype</term><term>Phosphoproteins (genetics)</term><term>Syndrome</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Phosphoproteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Greece</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cognition Disorders</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Diagnosis, Differential</term><term>Disease Progression</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Phenotype</term><term>Syndrome</term><term>Synucleins</term><term>alpha-Synuclein</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Grèce</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The motor and neuropsychological abnormalities in eight Greek patients with Parkinson's disease (PD) carrying the alpha-synuclein gene mutation (G209A) were studied. These patients (five men, three women) belonged to six different families. Their symptoms started between 32-50 years of age (mean +/- SD, 39.7 +/- 7.6 years) and they had a mean disease duration of 5.4 +/- 2.1 years (range, 2-9 years) at the time of examination. Rigidity and bradykinesia predominated both at disease onset as well as in the later stages and rest tremor was relatively uncommon. Neuropsychological assessment showed that one patient was mildly demented while another had impairment in memory, visuoconstructive abilities, and executive function. Depression was present in only one patient. Our findings indicate that genetic forms of parkinsonism share common motor and cognitive characteristics with sporadic PD but raise the possibility that greater cognitive impairment and the relative rarity of tremor may be distinctive features worthy of further investigation.</div></front></TEI><affiliations><list><country><li>Grèce</li></country></list><tree><noCountry><name sortKey="Hatzigeorgiou, G" sort="Hatzigeorgiou, G" uniqKey="Hatzigeorgiou G" first="G" last="Hatzigeorgiou">G. Hatzigeorgiou</name><name sortKey="Katsarou, Z" sort="Katsarou, Z" uniqKey="Katsarou Z" first="Z" last="Katsarou">Z. Katsarou</name><name sortKey="Lees, A" sort="Lees, A" uniqKey="Lees A" first="A" last="Lees">A. Lees</name><name sortKey="Papadimitriou, A" sort="Papadimitriou, A" uniqKey="Papadimitriou A" first="A" last="Papadimitriou">A. Papadimitriou</name><name sortKey="Veletza, V" sort="Veletza, V" uniqKey="Veletza V" first="V" last="Veletza">V. Veletza</name></noCountry><country name="Grèce"><noRegion><name sortKey="Bostantjopoulou, S" sort="Bostantjopoulou, S" uniqKey="Bostantjopoulou S" first="S" last="Bostantjopoulou">S. Bostantjopoulou</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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