MovDisordV3, Main, Exploration, bibRecord, 003805

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years

Identifieur interne : 003805 ( Main/Exploration ); précédent : 003804; suivant : 003806

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years

Auteurs : Naheed L. Khan [Royaume-Uni] ; Wagner Horta [Brésil] ; Louise Eunson [Royaume-Uni] ; Elizabeth Graham [Royaume-Uni] ; Janel O. Johnson [États-Unis] ; Shannon Chang [États-Unis] ; Mary Davis [Royaume-Uni] ; Andrew Singleton [États-Unis] ; Nicholas W. Wood [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni]

Source :

Movement Disorders [ 0885-3185 ] ; 2005-04.

RBID : ISTEX:078159AAB03402D287C00EDCC3BCA2514985A4FD

Descripteurs français

Pascal (Inist)
- Parkine, Porteur, Système nerveux pathologie.
Wicri :
- geographic : Brésil.

English descriptors

KwdEn :
- Adult, Antiparkinson Agents (adverse effects), Brazil, Carrier, DNA Mutational Analysis, Dyskinesia, Drug-Induced (etiology), Dyskinesia, Drug-Induced (physiopathology), Exons (genetics), Female, Follow-Up Studies, Foot (physiopathology), Genotype, Heterozygote, Humans, Levodopa (adverse effects), Male, Nervous system diseases, Parkin, Parkinsonian Disorders (drug therapy), Parkinsonian Disorders (ethnology), Parkinsonian Disorders (genetics), Pedigree, Point Mutation (genetics), Ubiquitin-Protein Ligases (genetics), haploinsufficiency, isolated population, manifesting carriers.
MESH :
- chemical , adverse effects : Antiparkinson Agents, Levodopa.
- chemical , genetics : Ubiquitin-Protein Ligases.
- geographic : Brazil.
- drug therapy : Parkinsonian Disorders.
- ethnology : Parkinsonian Disorders.
- etiology : Dyskinesia, Drug-Induced.
- genetics : Exons, Parkinsonian Disorders, Point Mutation.
- physiopathology : Dyskinesia, Drug-Induced, Foot.
- Adult, DNA Mutational Analysis, Female, Follow-Up Studies, Genotype, Heterozygote, Humans, Male, Pedigree.

Abstract

We report on a large Brazilian kindred with young‐onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow‐up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent. © 2005 Movement Disorder Society

Url:

https://api.istex.fr/document/078159AAB03402D287C00EDCC3BCA2514985A4FD/fulltext/pdf

DOI: 10.1002/mds.20335

Affiliations:

Le document en format XML

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<author><name sortKey="Davis, Mary" sort="Davis, Mary" uniqKey="Davis M" first="Mary" last="Davis">Mary Davis</name>
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<term>Carrier</term>
<term>DNA Mutational Analysis</term>
<term>Dyskinesia, Drug-Induced (etiology)</term>
<term>Dyskinesia, Drug-Induced (physiopathology)</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Foot (physiopathology)</term>
<term>Genotype</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Levodopa (adverse effects)</term>
<term>Male</term>
<term>Nervous system diseases</term>
<term>Parkin</term>
<term>Parkinsonian Disorders (drug therapy)</term>
<term>Parkinsonian Disorders (ethnology)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Pedigree</term>
<term>Point Mutation (genetics)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>haploinsufficiency</term>
<term>isolated population</term>
<term>manifesting carriers</term>
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<term>Levodopa</term>
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</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dyskinesia, Drug-Induced</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term>
<term>Parkinsonian Disorders</term>
<term>Point Mutation</term>
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<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dyskinesia, Drug-Induced</term>
<term>Foot</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Genotype</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
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<front><div type="abstract" xml:lang="en">We report on a large Brazilian kindred with young‐onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow‐up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent. © 2005 Movement Disorder Society</div>
</front>
</TEI>
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<li>Royaume-Uni</li>
<li>États-Unis</li>
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<li>Grand Londres</li>
<li>Maryland</li>
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<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Khan, Naheed L" sort="Khan, Naheed L" uniqKey="Khan N" first="Naheed L." last="Khan">Naheed L. Khan</name>
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<name sortKey="Davis, Mary" sort="Davis, Mary" uniqKey="Davis M" first="Mary" last="Davis">Mary Davis</name>
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<name sortKey="Graham, Elizabeth" sort="Graham, Elizabeth" uniqKey="Graham E" first="Elizabeth" last="Graham">Elizabeth Graham</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<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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<country name="Brésil"><noRegion><name sortKey="Horta, Wagner" sort="Horta, Wagner" uniqKey="Horta W" first="Wagner" last="Horta">Wagner Horta</name>
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<name sortKey="Chang, Shannon" sort="Chang, Shannon" uniqKey="Chang S" first="Shannon" last="Chang">Shannon Chang</name>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</country>
</tree>
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Movement Disorders (revue)

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow‐up over 10 years

Source :

Descripteurs français

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.