Paroxysmal dystonic choreoathetosis: Clinical features and investigation of pathophysiology in a large family
Identifieur interne : 004A04 ( Main/Exploration ); précédent : 004A03; suivant : 004A05Paroxysmal dystonic choreoathetosis: Clinical features and investigation of pathophysiology in a large family
Auteurs : Paul R. Jarman [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Charles Davie [Royaume-Uni] ; Simon J. R. Heales [Royaume-Uni] ; Nora Turjanski [Royaume-Uni] ; Simon D. Taylor-Robinson [Royaume-Uni] ; C. David Marsden [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2000-07.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adult, Athetosis (diagnosis), Athetosis (genetics), Athetosis (physiopathology), Brain (physiopathology), Brain (vertebrata), Chorea (diagnosis), Chorea (genetics), Chorea (physiopathology), Choreoathetosis, Chromosomes, Human, Pair 2, Diagnostic Imaging, Dopamine, Dopamine (physiology), Dystonia, Emission tomography, Exploration, Family study, Female, Genes, Dominant (genetics), Genetics, Human, Humans, MRS, Male, NMR spectrometry, PDC, PET, Pathophysiology, Pedigree, Positron, Receptors, Dopamine D2 (physiology).
- MESH :
- chemical , physiology : Dopamine, Receptors, Dopamine D2.
- diagnosis : Athetosis, Chorea.
- genetics : Athetosis, Chorea, Genes, Dominant.
- physiopathology : Athetosis, Brain, Chorea.
- Adult, Chromosomes, Human, Pair 2, Diagnostic Imaging, Female, Humans, Male, Pedigree.
Abstract
Paroxysmal dystonic choreoathetosis (PDC) is an unusual hyperkinetic movement disorder characterized by attacks of chorea, dystonia, and ballism with onset in childhood. We report a large British family with dominantly inherited PDC linked to chromosome 2q and describe the clinical features in 20 affected family members. Attacks were precipitated by a variety of factors, including caffeine, alcohol, or emotion, and could be relieved by short periods of sleep in most subjects. The clinical features in the family are compared with those of 11 other PDC families in the literature and a core phenotype for PDC suggested. CSF monoamine metabolites measured at baseline and during an attack in one subject were found to increase during the attack. Magnetic resonance spectroscopy of brain and basal ganglia performed both during and between attacks was normal. Positron emission tomography using the D2 receptor ligand, 11C‐raclopride, showed no abnormalities.
Url:
DOI: 10.1002/1531-8257(200007)15:4<648::AID-MDS1008>3.0.CO;2-T
Affiliations:
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Le document en format XML
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We report a large British family with dominantly inherited PDC linked to chromosome 2q and describe the clinical features in 20 affected family members. Attacks were precipitated by a variety of factors, including caffeine, alcohol, or emotion, and could be relieved by short periods of sleep in most subjects. The clinical features in the family are compared with those of 11 other PDC families in the literature and a core phenotype for PDC suggested. CSF monoamine metabolites measured at baseline and during an attack in one subject were found to increase during the attack. Magnetic resonance spectroscopy of brain and basal ganglia performed both during and between attacks was normal. Positron emission tomography using the D2 receptor ligand, 11C‐raclopride, showed no abnormalities.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Jarman, Paul R" sort="Jarman, Paul R" uniqKey="Jarman P" first="Paul R." last="Jarman">Paul R. Jarman</name></region><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Davie, Charles" sort="Davie, Charles" uniqKey="Davie C" first="Charles" last="Davie">Charles Davie</name><name sortKey="Heales, Simon J R" sort="Heales, Simon J R" uniqKey="Heales S" first="Simon J. R." last="Heales">Simon J. R. Heales</name><name sortKey="Marsden, C David" sort="Marsden, C David" uniqKey="Marsden C" first="C. David" last="Marsden">C. David Marsden</name><name sortKey="Taylor Obinson, Simon D" sort="Taylor Obinson, Simon D" uniqKey="Taylor Obinson S" first="Simon D." last="Taylor-Robinson">Simon D. Taylor-Robinson</name><name sortKey="Turjanski, Nora" sort="Turjanski, Nora" uniqKey="Turjanski N" first="Nora" last="Turjanski">Nora Turjanski</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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