MovDisordV3, Main, Exploration, bibRecord, 006536

Neurochemical findings in neuroacanthocytosis

Identifieur interne : 006536 ( Main/Exploration ); précédent : 006535; suivant : 006537

Neurochemical findings in neuroacanthocytosis

Auteurs : de Yebenes [Espagne, États-Unis] ; M. F. Brin [États-Unis] ; M. A. Mena [Espagne] ; C. De Felipe [Espagne] ; R. M. Del Rio [Espagne] ; E. Bazan [Espagne] ; A. Martinez [Espagne] ; S. Fahn [États-Unis] ; J. Del Rio [Espagne] ; A. Vazquez [Espagne] ; E. Varela De Seijas [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 1988.

RBID : ISTEX:605FF2ACBF5B6DB27BD5684D3F9B61F154B875CD

English descriptors

KwdEn :
- Acanthocytes (pathology), Adult, Atrophy, Brain (pathology), Caudate Nucleus (pathology), Chorea (genetics), Chorea (pathology), Diseases in Twins, Dopamine, Dystonia, Dystonia (genetics), Dystonia (pathology), Erythrocytes, Abnormal (pathology), Humans, Male, Neuroacanthocytosis, Neurotransmitter Agents (analysis), Norepinephrine, Receptors, Neurotransmitter (analysis), depletion, elevation.
MESH :
- chemical , analysis : Neurotransmitter Agents, Receptors, Neurotransmitter.
- genetics : Chorea, Dystonia.
- pathology : Acanthocytes, Brain, Caudate Nucleus, Chorea, Dystonia, Erythrocytes, Abnormal.
- Adult, Atrophy, Diseases in Twins, Humans, Male.

Abstract

We performed a neurochemical study of the brain of two unrelated patients, living in different continents, with neuroacanthocytosis. The levels of monoamines and their metabolites, γ‐aminobutyric acid and substance P, were measured in several brain areas and the monoamine metabolites in cerebrospinal fluid. The binding of 3H‐spiperone to striatal membranes and to lymphoctytes was also measured. Both patients had a progressive neurological disorder with onset in the third decade of life and characterized by a complex movement disorder, epilepsy, muscular wasting, and changes in behavior. The movement disorder, epilepsy, muscular wasting, and changes in behavior. The movement disorder initially manifested with oromandibular dystonai and limb chorea, but at the time of death was characterized by a severe dystonic syndrome. The chemical changes were similar in the two patients. The most important neurochemical findings were a depletion of dopamine and its metabolites in most brain areas, most notably in the striatum, and elevation of norepiephrine levels in the putamen and globus pallidus. Substance P was markedly reduced in the striatum and substantia nigra. Our findings may provide clues to the neurochemical mechanisms underlying dystonia.

Url:

https://api.istex.fr/document/605FF2ACBF5B6DB27BD5684D3F9B61F154B875CD/fulltext/pdf

DOI: 10.1002/mds.870030404

Affiliations:

Le document en format XML

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<author><name sortKey="Brin, M F" sort="Brin, M F" uniqKey="Brin M" first="M. F." last="Brin">M. F. Brin</name>
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<author><name sortKey="Mena, M A" sort="Mena, M A" uniqKey="Mena M" first="M. A." last="Mena">M. A. Mena</name>
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<author><name sortKey="De Felipe, C" sort="De Felipe, C" uniqKey="De Felipe C" first="C." last="De Felipe">C. De Felipe</name>
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<author><name sortKey="Del Rio, R M" sort="Del Rio, R M" uniqKey="Del Rio R" first="R. M." last="Del Rio">R. M. Del Rio</name>
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<author><name sortKey="Bazan, E" sort="Bazan, E" uniqKey="Bazan E" first="E." last="Bazan">E. Bazan</name>
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<author><name sortKey="Martinez, A" sort="Martinez, A" uniqKey="Martinez A" first="A." last="Martinez">A. Martinez</name>
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<author><name sortKey="Fahn, S" sort="Fahn, S" uniqKey="Fahn S" first="S." last="Fahn">S. Fahn</name>
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<author><name sortKey="Del Rio, J" sort="Del Rio, J" uniqKey="Del Rio J" first="J." last="Del Rio">J. Del Rio</name>
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<author><name sortKey="Vazquez, A" sort="Vazquez, A" uniqKey="Vazquez A" first="A." last="Vazquez">A. Vazquez</name>
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<author><name sortKey="De Seijas, E Varela" sort="De Seijas, E Varela" uniqKey="De Seijas E" first="E. Varela" last="De Seijas">E. Varela De Seijas</name>
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<author><name sortKey="De Seijas, E Varela" sort="De Seijas, E Varela" uniqKey="De Seijas E" first="E. Varela" last="De Seijas">E. Varela De Seijas</name>
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<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
<title level="j" type="abbrev">Mov. Disord.</title>
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<pubPlace>Hoboken</pubPlace>
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<term>Adult</term>
<term>Atrophy</term>
<term>Brain (pathology)</term>
<term>Caudate Nucleus (pathology)</term>
<term>Chorea (genetics)</term>
<term>Chorea (pathology)</term>
<term>Diseases in Twins</term>
<term>Dopamine</term>
<term>Dystonia</term>
<term>Dystonia (genetics)</term>
<term>Dystonia (pathology)</term>
<term>Erythrocytes, Abnormal (pathology)</term>
<term>Humans</term>
<term>Male</term>
<term>Neuroacanthocytosis</term>
<term>Neurotransmitter Agents (analysis)</term>
<term>Norepinephrine</term>
<term>Receptors, Neurotransmitter (analysis)</term>
<term>depletion</term>
<term>elevation</term>
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<term>Receptors, Neurotransmitter</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term>
<term>Dystonia</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Acanthocytes</term>
<term>Brain</term>
<term>Caudate Nucleus</term>
<term>Chorea</term>
<term>Dystonia</term>
<term>Erythrocytes, Abnormal</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Atrophy</term>
<term>Diseases in Twins</term>
<term>Humans</term>
<term>Male</term>
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<front><div type="abstract" xml:lang="en">We performed a neurochemical study of the brain of two unrelated patients, living in different continents, with neuroacanthocytosis. The levels of monoamines and their metabolites, γ‐aminobutyric acid and substance P, were measured in several brain areas and the monoamine metabolites in cerebrospinal fluid. The binding of 3H‐spiperone to striatal membranes and to lymphoctytes was also measured. Both patients had a progressive neurological disorder with onset in the third decade of life and characterized by a complex movement disorder, epilepsy, muscular wasting, and changes in behavior. The movement disorder, epilepsy, muscular wasting, and changes in behavior. The movement disorder initially manifested with oromandibular dystonai and limb chorea, but at the time of death was characterized by a severe dystonic syndrome. The chemical changes were similar in the two patients. The most important neurochemical findings were a depletion of dopamine and its metabolites in most brain areas, most notably in the striatum, and elevation of norepiephrine levels in the putamen and globus pallidus. Substance P was markedly reduced in the striatum and substantia nigra. Our findings may provide clues to the neurochemical mechanisms underlying dystonia.</div>
</front>
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Movement Disorders (revue)

Neurochemical findings in neuroacanthocytosis

Neurochemical findings in neuroacanthocytosis

Source :

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	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.