MovDisordV3, Main, Exploration, bibRecord, 000560

Heterogeneity in primary dystonia: lessons from THAP1, GNAL and TOR1A in Amish-Mennonites

Identifieur interne : 000560 ( Main/Exploration ); précédent : 000559; suivant : 000561

Heterogeneity in primary dystonia: lessons from THAP1, GNAL and TOR1A in Amish-Mennonites

Auteurs : Rachel Saunders-Pullman [États-Unis] ; Tania Fuchs [États-Unis] ; Marta San Luciano [États-Unis] ; Deborah Raymond [États-Unis] ; Alison Brashear [États-Unis] ; Robert Ortega [États-Unis] ; Andres Deik [États-Unis] ; Laurie J. Ozelius [États-Unis] ; Susan B. Bressman [États-Unis]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2014.

RBID : PMC:4013240

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Amish, Apoptosis Regulatory Proteins (genetics), Child, Child, Preschool, DNA Mutational Analysis, DNA-Binding Proteins (genetics), Dystonic Disorders (ethnology), Dystonic Disorders (genetics), Family Health, Female, GTP-Binding Protein alpha Subunits (genetics), Genetic Predisposition to Disease (genetics), Humans, Infant, Male, Middle Aged, Molecular Chaperones (genetics), Mutation (genetics), Nuclear Proteins (genetics), Young Adult.
MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, GTP-Binding Protein alpha Subunits, Molecular Chaperones, Nuclear Proteins.
- ethnology : Dystonic Disorders.
- genetics : Dystonic Disorders, Genetic Predisposition to Disease, Mutation.
- Adolescent, Adult, Aged, Amish, Child, Child, Preschool, DNA Mutational Analysis, Family Health, Female, Humans, Infant, Male, Middle Aged, Young Adult.

Abstract

Background

A founder mutation in the THAP1 gene causing primary dystonia was originally described in the Amish-Mennonites. However there may be both genotypic and phenotypic heterogeneity of dystonia in this population that may also inform studies in other ethnic groups.

Methods

Genotyping for THAP1, and GNAL mutations and genotype-phenotype comparisons were performed for 76 individuals of Amish-Mennonites heritage with primary dystonia.

Results

27 had mutations in THAP1—most with the founder indel mutation, but two had different THAP1 mutations; 8 had mutations in GNAL; and 1 had a de novo GAG deletion in TOR1A. In the primary analysis comparing THAP1 carriers to all non-THAP1, non-GNAL, non-TOR1A individuals, age at onset was lower in THAP1 carriers (15.46±9.20, range 5–38 vs. 39.18±17.65, range 1–70, p<0.001), carriers were more likely to have onset of dystonia in an arm (44.4% vs. 15%, p=0.02), and to have arm (88.9% vs. 22.5%, p<0.01), leg (51.9% vs. 10% p=0.01), and jaw/tongue (33.3% vs. 7.5%, p=0.02) involvement at final examination. Carriers were less likely to have dystonia restricted to a single site (11.11% in carriers vs. 65.85% (p<0.01)), and less likely to have dystonia onset in cervical regions (25.9% THAP1 vs. 52.5% in non-carriers, p=0.04).

Conclusions

Primary dystonia in the Amish-Mennonites is genetically diverse, and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion. Phenotype, particularly age at onset combined with final distribution, may be highly specific for the genetic etiology.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013240

DOI: 10.1002/mds.25818
PubMed: 24500857
PubMed Central: 4013240

Affiliations:

Le document en format XML

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 in Amish-Mennonites</title>
<author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
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<country xml:lang="fr">États-Unis</country>
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<wicri:cityArea>Department of Neurology, Beth Israel Medical Center, New York</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Albert Einstein College of Medicine, Bronx, NY</nlm:aff>
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<wicri:cityArea>Department of Neurology, Albert Einstein College of Medicine, Bronx</wicri:cityArea>
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<placeName><region type="state">État de New York</region>
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<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Albert Einstein College of Medicine, Bronx, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Heterogeneity in primary dystonia: lessons from <italic>THAP1, GNAL</italic>
 and <italic>TOR1A</italic>
 in Amish-Mennonites</title>
<author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
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<wicri:cityArea>Department of Neurology, Beth Israel Medical Center, New York</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Albert Einstein College of Medicine, Bronx, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
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<author><name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York</wicri:cityArea>
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</author>
<author><name sortKey="San Luciano, Marta" sort="San Luciano, Marta" uniqKey="San Luciano M" first="Marta" last="San Luciano">Marta San Luciano</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Department of Neurology, University of California, San Francisco, CA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Californie</region>
</placeName>
<wicri:cityArea>Department of Neurology, University of California, San Francisco</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Neurology, Beth Israel Medical Center, New York</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Brashear, Alison" sort="Brashear, Alison" uniqKey="Brashear A" first="Alison" last="Brashear">Alison Brashear</name>
<affiliation wicri:level="2"><nlm:aff id="A5">Department of Neurology, Wake Forest School of Medicine, Winston Salem, NC</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Department of Neurology, Wake Forest School of Medicine, Winston Salem</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Ortega, Robert" sort="Ortega, Robert" uniqKey="Ortega R" first="Robert" last="Ortega">Robert Ortega</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neurology, Beth Israel Medical Center, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Neurology, Beth Israel Medical Center, New York</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Deik, Andres" sort="Deik, Andres" uniqKey="Deik A" first="Andres" last="Deik">Andres Deik</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neurology, Beth Israel Medical Center, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Neurology, Beth Israel Medical Center, New York</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<affiliation wicri:level="2"><nlm:aff id="A3">Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
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<wicri:cityArea>Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A6">Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Neurology, Icahn School of Medicine at Mount Sinai, New York</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Neurology, Beth Israel Medical Center, New York, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Neurology, Beth Israel Medical Center, New York</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Neurology, Albert Einstein College of Medicine, Bronx, NY</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Neurology, Albert Einstein College of Medicine, Bronx</wicri:cityArea>
</affiliation>
</author>
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<idno type="ISSN">0885-3185</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Amish</term>
<term>Apoptosis Regulatory Proteins (genetics)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>DNA Mutational Analysis</term>
<term>DNA-Binding Proteins (genetics)</term>
<term>Dystonic Disorders (ethnology)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>GTP-Binding Protein alpha Subunits (genetics)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Chaperones (genetics)</term>
<term>Mutation (genetics)</term>
<term>Nuclear Proteins (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term>
<term>DNA-Binding Proteins</term>
<term>GTP-Binding Protein alpha Subunits</term>
<term>Molecular Chaperones</term>
<term>Nuclear Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Dystonic Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Genetic Predisposition to Disease</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Amish</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Young Adult</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1">A founder mutation in the <italic>THAP1</italic>
 gene causing primary dystonia was originally described in the Amish-Mennonites. However there may be both genotypic and phenotypic heterogeneity of dystonia in this population that may also inform studies in other ethnic groups.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">Genotyping for THAP1, and GNAL mutations and genotype-phenotype comparisons were performed for 76 individuals of Amish-Mennonites heritage with primary dystonia.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">27 had mutations in <italic>THAP1</italic>
—most with the founder indel mutation, but two had different <italic>THAP1</italic>
 mutations; 8 had mutations in <italic>GNAL;</italic>
 and 1 had a <italic>de novo</italic>
 GAG deletion in <italic>TOR1A</italic>
. In the primary analysis comparing <italic>THAP1</italic>
 carriers to all non-<italic>THAP1, non-GNAL, non-TOR1A</italic>
 individuals, age at onset was lower in <italic>THAP1</italic>
 carriers (15.46±9.20, range 5–38 vs. 39.18±17.65, range 1–70, p<0.001), carriers were more likely to have onset of dystonia in an arm (44.4% vs. 15%, p=0.02), and to have arm (88.9% vs. 22.5%, p<0.01), leg (51.9% vs. 10% p=0.01), and jaw/tongue (33.3% vs. 7.5%, p=0.02) involvement at final examination. Carriers were less likely to have dystonia restricted to a single site (11.11% in carriers vs. 65.85% (p<0.01)), and less likely to have dystonia onset in cervical regions (25.9% <italic>THAP1</italic>
 vs. 52.5% in non-carriers, p=0.04).</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">Primary dystonia in the Amish-Mennonites is genetically diverse, and includes not only the <italic>THAP1</italic>
 indel founder mutation but also different mutations in <italic>THAP1</italic>
 and <italic>GNAL</italic>
 as well as the <italic>TOR1A</italic>
 GAG deletion. Phenotype, particularly age at onset combined with final distribution, may be highly specific for the genetic etiology.</p>
</sec>
</div>
</front>
</TEI>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Californie</li>
<li>Caroline du Nord</li>
<li>État de New York</li>
</region>
</list>
<tree><country name="États-Unis"><region name="État de New York"><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
</region>
<name sortKey="Brashear, Alison" sort="Brashear, Alison" uniqKey="Brashear A" first="Alison" last="Brashear">Alison Brashear</name>
<name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name>
<name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name>
<name sortKey="Deik, Andres" sort="Deik, Andres" uniqKey="Deik A" first="Andres" last="Deik">Andres Deik</name>
<name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name>
<name sortKey="Ortega, Robert" sort="Ortega, Robert" uniqKey="Ortega R" first="Robert" last="Ortega">Robert Ortega</name>
<name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name>
<name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
<name sortKey="San Luciano, Marta" sort="San Luciano, Marta" uniqKey="San Luciano M" first="Marta" last="San Luciano">Marta San Luciano</name>
<name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
</country>
</tree>
</affiliations>
</record>

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   |type=    RBID
   |clé=     PMC:4013240
   |texte=   Heterogeneity in primary dystonia: lessons from THAP1, GNAL and TOR1A in Amish-Mennonites
}}

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Movement Disorders (revue)

Heterogeneity in primary dystonia: lessons from THAP1, GNAL and TOR1A in Amish-Mennonites

Heterogeneity in primary dystonia: lessons from THAP1, GNAL and TOR1A in Amish-Mennonites

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	Movement Disorders (revue)
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