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Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause

Identifieur interne : 003333 ( Main/Exploration ); précédent : 003332; suivant : 003334

Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause

Auteurs : Peter Bauer [Allemagne] ; Friedmar R. Kreuz [Allemagne] ; Katrin Bürk [Allemagne] ; Carsten Saft [Allemagne] ; Jürgen Andrich [Allemagne] ; Hubert Heilemann [Allemagne] ; Olaf Riess [Allemagne] ; Ludger Schöls [Allemagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-10.

RBID : ISTEX:AF305F23561A731699E5076276F38D1AE62ADBD3

Descripteurs français

Pascal (Inist)
- Chorée syndrome, Dépistage, Mutation, Sporadique, Système nerveux pathologie.
Wicri :
- geographic : Finlande.

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Child, Child, Preschool, Chorea, Chorea (diagnosis), Chorea (genetics), Chromosome Aberrations, Female, Finland, Genes, Dominant, Genotype, Humans, Infant, Male, Medical screening, Middle Aged, Mutation, Mutation (genetics), Nervous system diseases, Nuclear Proteins (genetics), Polymerase Chain Reaction, Sporadic, TITF1, Transcription Factors (genetics), benign chorea, mutation screening.
MESH :
- chemical , genetics : Nuclear Proteins, Transcription Factors.
- geographic : Finland.
- diagnosis : Chorea.
- genetics : Chorea, Mutation.
- Adolescent, Adult, Aged, Child, Child, Preschool, Chromosome Aberrations, Female, Genes, Dominant, Genotype, Humans, Infant, Male, Middle Aged, Polymerase Chain Reaction.

Abstract

Benign hereditary chorea (BHC; OMIM 118700) is an autosomal dominant movement disorder. Mutations in the thyroid transcription factor 1 (TITF1) gene have been linked with BHC. The phenotype for BHC is highly variable and may include atypical features such as dystonia, slow saccades, and even cognitive deficits. Although BHC is commonly transmitted in a dominant manner, assessment of TITF1 mutations in familial or sporadic patients with late‐onset nonprogressive or early‐onset progressive chorea is of practical relevance in order to evaluate diagnostic strategies in single patients. In this study, 18 patients with chorea of unknown cause including index patients of three families with autosomal dominantly inherited nonprogressive chorea have been screened for TITF1 mutations by means of denaturating high‐pressure liquid chromatography (dHPLC). No sequence variations were detected for the complete open reading frame, suggesting that TITF1 mutations are not a common cause of sporadic or familial chorea of unknown cause. Additionally, linkage analysis excluded TITF1 mutations in a large family with benign hereditary chorea. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/AF305F23561A731699E5076276F38D1AE62ADBD3/fulltext/pdf

DOI: 10.1002/mds.21031

Affiliations:

Le document en format XML

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<author><name sortKey="Kreuz, Friedmar R" sort="Kreuz, Friedmar R" uniqKey="Kreuz F" first="Friedmar R." last="Kreuz">Friedmar R. Kreuz</name>
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<author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Bürk">Katrin Bürk</name>
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<author><name sortKey="Saft, Carsten" sort="Saft, Carsten" uniqKey="Saft C" first="Carsten" last="Saft">Carsten Saft</name>
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<author><name sortKey="Andrich, Jurgen" sort="Andrich, Jurgen" uniqKey="Andrich J" first="Jürgen" last="Andrich">Jürgen Andrich</name>
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<term>Adult</term>
<term>Aged</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chorea</term>
<term>Chorea (diagnosis)</term>
<term>Chorea (genetics)</term>
<term>Chromosome Aberrations</term>
<term>Female</term>
<term>Finland</term>
<term>Genes, Dominant</term>
<term>Genotype</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Medical screening</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Mutation (genetics)</term>
<term>Nervous system diseases</term>
<term>Nuclear Proteins (genetics)</term>
<term>Polymerase Chain Reaction</term>
<term>Sporadic</term>
<term>TITF1</term>
<term>Transcription Factors (genetics)</term>
<term>benign chorea</term>
<term>mutation screening</term>
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<term>Transcription Factors</term>
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<term>Chromosome Aberrations</term>
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<term>Genotype</term>
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<term>Infant</term>
<term>Male</term>
<term>Middle Aged</term>
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<front><div type="abstract" xml:lang="en">Benign hereditary chorea (BHC; OMIM 118700) is an autosomal dominant movement disorder. Mutations in the thyroid transcription factor 1 (TITF1) gene have been linked with BHC. The phenotype for BHC is highly variable and may include atypical features such as dystonia, slow saccades, and even cognitive deficits. Although BHC is commonly transmitted in a dominant manner, assessment of TITF1 mutations in familial or sporadic patients with late‐onset nonprogressive or early‐onset progressive chorea is of practical relevance in order to evaluate diagnostic strategies in single patients. In this study, 18 patients with chorea of unknown cause including index patients of three families with autosomal dominantly inherited nonprogressive chorea have been screened for TITF1 mutations by means of denaturating high‐pressure liquid chromatography (dHPLC). No sequence variations were detected for the complete open reading frame, suggesting that TITF1 mutations are not a common cause of sporadic or familial chorea of unknown cause. Additionally, linkage analysis excluded TITF1 mutations in a large family with benign hereditary chorea. © 2006 Movement Disorder Society</div>
</front>
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Movement Disorders (revue)

Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause

Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause

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)
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