MovDisordV3, Main, Exploration, bibRecord, 003A46

A novel family with an unusual early‐onset generalized dystonia

Identifieur interne : 003A46 ( Main/Exploration ); précédent : 003A45; suivant : 003A47

A novel family with an unusual early‐onset generalized dystonia

Auteurs : Giovanni Fabbrini [Italie] ; Francesco Brancati [Italie] ; Laura Vacca [Italie] ; Enza Maria Valente [Italie] ; Andrea Nemeth [Royaume-Uni] ; Angela Meesaq [Royaume-Uni] ; Nuala Sykes [Royaume-Uni] ; Bruno Dallapiccola [Italie] ; Alfredo Berardelli [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2005-01.

RBID : ISTEX:956538BEB3A131550E4E8AE81F565F53BA2620E4

Descripteurs français

Pascal (Inist)
- Contrôle moteur, Dystonie, Parkine, Parkinsonisme, Système nerveux pathologie.
Wicri :
- geographic : Italie.

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, DYT12, Dystonia, Dystonia (complications), Dystonia (genetics), Family Health, Female, Haplotypes, Humans, Italy, Lubag, Male, Motor control, Nervous system diseases, Parkin, Parkinson Disease (complications), Parkinson Disease (genetics), Parkinsonism, Sequence Analysis, DNA (methods), dystonia, parkin, parkinsonism.
MESH :
- geographic : Italy.
- complications : Dystonia, Parkinson Disease.
- genetics : Dystonia, Parkinson Disease.
- methods : Sequence Analysis, DNA.
- Adult, Aged, Aged, 80 and over, Family Health, Female, Haplotypes, Humans, Male.

Abstract

We report on an Italian family in which three brothers and their maternal grandfather had a generalized early‐onset dystonia with mild parkinsonian signs. Genetic testing excluded the rapid‐onset dystonia‐parkinsonism locus (DYT12; OMIM*128235), autosomal recessive Parkin locus (PARK2; OMIM *602544), and DYT1 dystonia. Three affected siblings were found to share an identical haplotype at the X‐linked dystonia–parkinsonism locus (XDP; Lubag; OMIM*314250). This haplotype differed from the haplotype observed in Filipino patients, ruling out the hypothesis of a common underlying mutation. In addition, direct sequencing analysis of the putative disease causing changes observed in Filipino patients were not found in the Italian patients. The condition we describe could be a newly recognized dystonia syndrome with parkinsonism. © 2004 Movement Disorder Society

Url:

https://api.istex.fr/document/956538BEB3A131550E4E8AE81F565F53BA2620E4/fulltext/pdf

DOI: 10.1002/mds.20267

Affiliations:

Le document en format XML

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<author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name>
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<author><name sortKey="Vacca, Laura" sort="Vacca, Laura" uniqKey="Vacca L" first="Laura" last="Vacca">Laura Vacca</name>
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<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
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<term>Haplotypes</term>
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<front><div type="abstract" xml:lang="en">We report on an Italian family in which three brothers and their maternal grandfather had a generalized early‐onset dystonia with mild parkinsonian signs. Genetic testing excluded the rapid‐onset dystonia‐parkinsonism locus (DYT12; OMIM*128235), autosomal recessive Parkin locus (PARK2; OMIM *602544), and DYT1 dystonia. Three affected siblings were found to share an identical haplotype at the X‐linked dystonia–parkinsonism locus (XDP; Lubag; OMIM*314250). This haplotype differed from the haplotype observed in Filipino patients, ruling out the hypothesis of a common underlying mutation. In addition, direct sequencing analysis of the putative disease causing changes observed in Filipino patients were not found in the Italian patients. The condition we describe could be a newly recognized dystonia syndrome with parkinsonism. © 2004 Movement Disorder Society</div>
</front>
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<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Nemeth, Andrea" sort="Nemeth, Andrea" uniqKey="Nemeth A" first="Andrea" last="Nemeth">Andrea Nemeth</name>
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<name sortKey="Meesaq, Angela" sort="Meesaq, Angela" uniqKey="Meesaq A" first="Angela" last="Meesaq">Angela Meesaq</name>
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<name sortKey="Sykes, Nuala" sort="Sykes, Nuala" uniqKey="Sykes N" first="Nuala" last="Sykes">Nuala Sykes</name>
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Movement Disorders (revue)

A novel family with an unusual early‐onset generalized dystonia

A novel family with an unusual early‐onset generalized dystonia

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.