MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 000846

Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a De Novo TORIA GAG Deletion

Identifieur interne : 000846 ( PascalFrancis/Checkpoint ); précédent : 000845; suivant : 000847

Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a De Novo TORIA GAG Deletion

Auteurs : Patricia De Carvalho Aguiar [Brésil] ; Tania Fuchs [États-Unis] ; Vanderci Borges [Brésil] ; Kay-Marie Lamar [États-Unis] ; Sonia Maria Azevedo Silva [Brésil] ; Henrique Ballalai Ferraz [Brésil] ; Laurie Ozelius [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:11-0065124

Descripteurs français

Pascal (Inist)
- Dystonie, Délétion, Pathologie du système nerveux, Dépistage, Mutation, De novo.

English descriptors

KwdEn :
- De novo, Deletion, Dystonia, Medical screening, Mutation, Nervous system diseases.

Abstract

The TORIA and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAPI in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD.

Affiliations:

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

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Links to Exploration step

Pascal:11-0065124

Le document en format XML

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<front><div type="abstract" xml:lang="en">The TORIA and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAPI in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD.</div>
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<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>43</s5>
</fC07>
<fN21><s1>045</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations><list><country><li>Brésil</li>
<li>États-Unis</li>
</country>
<region><li>État de New York</li>
<li>État de São Paulo</li>
</region>
</list>
<tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patricia" last="De Carvalho Aguiar">Patricia De Carvalho Aguiar</name>
</region>
<name sortKey="Azevedo Silva, Sonia Maria" sort="Azevedo Silva, Sonia Maria" uniqKey="Azevedo Silva S" first="Sonia Maria" last="Azevedo Silva">Sonia Maria Azevedo Silva</name>
<name sortKey="Ballalai Ferraz, Henrique" sort="Ballalai Ferraz, Henrique" uniqKey="Ballalai Ferraz H" first="Henrique" last="Ballalai Ferraz">Henrique Ballalai Ferraz</name>
<name sortKey="Borges, Vanderci" sort="Borges, Vanderci" uniqKey="Borges V" first="Vanderci" last="Borges">Vanderci Borges</name>
<name sortKey="De Carvalho Aguiar, Patricia" sort="De Carvalho Aguiar, Patricia" uniqKey="De Carvalho Aguiar P" first="Patricia" last="De Carvalho Aguiar">Patricia De Carvalho Aguiar</name>
</country>
<country name="États-Unis"><region name="État de New York"><name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name>
</region>
<name sortKey="Lamar, Kay Marie" sort="Lamar, Kay Marie" uniqKey="Lamar K" first="Kay-Marie" last="Lamar">Kay-Marie Lamar</name>
<name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name>
<name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name>
</country>
</tree>
</affiliations>
</record>

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	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.

Movement Disorders (revue)

Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a De Novo TORIA GAG Deletion

Screening of Brazilian Families with Primary Dystonia Reveals a Novel THAP1 Mutation and a De Novo TORIA GAG Deletion

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