MovDisordV3, PubMed, Corpus, bibRecord, 003271

A novel family with an unusual early-onset generalized dystonia.

Identifieur interne : 003271 ( PubMed/Corpus ); précédent : 003270; suivant : 003272

A novel family with an unusual early-onset generalized dystonia.

Auteurs : Giovanni Fabbrini ; Francesco Brancati ; Laura Vacca ; Enza Maria Valente ; Andrea Nemeth ; Angela Meesaq ; Nuala Sykes ; Bruno Dallapiccola ; Alfredo Berardelli

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.

RBID : pubmed:15390042

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Dystonia (complications), Dystonia (genetics), Family Health, Female, Haplotypes, Humans, Italy, Male, Parkinson Disease (complications), Parkinson Disease (genetics), Sequence Analysis, DNA (methods).
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.

DOI: 10.1002/mds.20267
PubMed: 15390042

Links to Exploration step

pubmed:15390042

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel family with an unusual early-onset generalized dystonia.</title>
<author><name sortKey="Fabbrini, Giovanni" sort="Fabbrini, Giovanni" uniqKey="Fabbrini G" first="Giovanni" last="Fabbrini">Giovanni Fabbrini</name>
<affiliation><nlm:affiliation>Department of Neurological Sciences, University La Sapienza, Rome, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name>
</author>
<author><name sortKey="Vacca, Laura" sort="Vacca, Laura" uniqKey="Vacca L" first="Laura" last="Vacca">Laura Vacca</name>
</author>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
</author>
<author><name sortKey="Nemeth, Andrea" sort="Nemeth, Andrea" uniqKey="Nemeth A" first="Andrea" last="Nemeth">Andrea Nemeth</name>
</author>
<author><name sortKey="Meesaq, Angela" sort="Meesaq, Angela" uniqKey="Meesaq A" first="Angela" last="Meesaq">Angela Meesaq</name>
</author>
<author><name sortKey="Sykes, Nuala" sort="Sykes, Nuala" uniqKey="Sykes N" first="Nuala" last="Sykes">Nuala Sykes</name>
</author>
<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
</author>
<author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">A novel family with an unusual early-onset generalized dystonia.</title>
<author><name sortKey="Fabbrini, Giovanni" sort="Fabbrini, Giovanni" uniqKey="Fabbrini G" first="Giovanni" last="Fabbrini">Giovanni Fabbrini</name>
<affiliation><nlm:affiliation>Department of Neurological Sciences, University La Sapienza, Rome, Italy.</nlm:affiliation>
</affiliation>
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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>
</author>
<author><name sortKey="Nemeth, Andrea" sort="Nemeth, Andrea" uniqKey="Nemeth A" first="Andrea" last="Nemeth">Andrea Nemeth</name>
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<author><name sortKey="Meesaq, Angela" sort="Meesaq, Angela" uniqKey="Meesaq A" first="Angela" last="Meesaq">Angela Meesaq</name>
</author>
<author><name sortKey="Sykes, Nuala" sort="Sykes, Nuala" uniqKey="Sykes N" first="Nuala" last="Sykes">Nuala Sykes</name>
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<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
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<author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Dystonia (complications)</term>
<term>Dystonia (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Italy</term>
<term>Male</term>
<term>Parkinson Disease (complications)</term>
<term>Parkinson Disease (genetics)</term>
<term>Sequence Analysis, DNA (methods)</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonia</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Sequence Analysis, DNA</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</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.</div>
</front>
</TEI>
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<DateCreated><Year>2005</Year>
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<DateRevised><Year>2006</Year>
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<JournalIssue CitedMedium="Print"><Volume>20</Volume>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>A novel family with an unusual early-onset generalized dystonia.</ArticleTitle>
<Pagination><MedlinePgn>81-6</MedlinePgn>
</Pagination>
<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>(c) 2004 Movement Disorder Society.</CopyrightInformation>
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<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Fabbrini</LastName>
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<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017422">Sequence Analysis, DNA</DescriptorName>
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	Movement Disorders (revue)
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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 :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki