HS1‐BP3 gene variant is common in familial essential tremor
Identifieur interne : 003414 ( Main/Curation ); précédent : 003413; suivant : 003415HS1‐BP3 gene variant is common in familial essential tremor
Auteurs : Joseph J. Higgins [États-Unis] ; Roni Q. Lombardi [États-Unis] ; Joanna Pucilowska [États-Unis] ; Joseph Jankovic [États-Unis] ; Lawrence I. Golbe [États-Unis] ; Leo Verhagen [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-03.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- 14‐3‐3 proteins, Aged, Aged, 80 and over, Chromosome, Chromosomes, Human, Pair 2 (genetics), DNA Primers (genetics), Essential Tremor (genetics), Essential Tremor (physiopathology), Exons (genetics), Female, Genetic Variation (genetics), Genotype, Human, Humans, Male, Middle Aged, Mutation, Nerve Tissue Proteins (genetics), Nervous system diseases, Parkinson disease, Polymerase Chain Reaction, Posture (physiology), Protein, Tremor, chromosomes, essential tremor, human, missense, mutation, pair 2.
- MESH :
- chemical , genetics : DNA Primers, Nerve Tissue Proteins.
- genetics : Chromosomes, Human, Pair 2, Essential Tremor, Exons, Genetic Variation.
- physiology : Posture.
- physiopathology : Essential Tremor.
- Aged, Aged, 80 and over, Female, Genotype, Humans, Male, Middle Aged, Polymerase Chain Reaction.
Abstract
Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C→G) in exon 7 of the hematopoietic‐specific protein 1 binding protein 3 gene (HS1‐BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C→G variant in exon 7 of the HS1‐BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild‐type allele. The 828C→G genetic variant in the HS1‐BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1‐BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20692
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001844
- to stream Istex, to step Curation: Pour aller vers cette notice dans l'étape Curation :001844
- to stream Istex, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001E74
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002E42
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :002E42
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002D06
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001486
- to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :001486
- to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001486
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :004728
- to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001C08
- to stream PascalFrancis, to step Curation: Pour aller vers cette notice dans l'étape Curation :001113
- to stream PascalFrancis, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001A80
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :004B75
Links to Exploration step
ISTEX:2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">HS1‐BP3 gene variant is common in familial essential tremor</title>
<author><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph J." last="Higgins">Joseph J. Higgins</name>
</author>
<author><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni Q." last="Lombardi">Roni Q. Lombardi</name>
</author>
<author><name sortKey="Pucilowska, Joanna" sort="Pucilowska, Joanna" uniqKey="Pucilowska J" first="Joanna" last="Pucilowska">Joanna Pucilowska</name>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><country>États-Unis</country>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name>
</author>
<author><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3</idno>
<date when="2006" year="2006">2006</date>
<idno type="doi">10.1002/mds.20692</idno>
<idno type="url">https://api.istex.fr/document/2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001844</idno>
<idno type="wicri:Area/Istex/Curation">001844</idno>
<idno type="wicri:Area/Istex/Checkpoint">001E74</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Higgins J:hs:bp:gene</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:16211613</idno>
<idno type="wicri:Area/PubMed/Corpus">002E42</idno>
<idno type="wicri:Area/PubMed/Curation">002E42</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002D06</idno>
<idno type="wicri:Area/Ncbi/Merge">001486</idno>
<idno type="wicri:Area/Ncbi/Curation">001486</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001486</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Higgins J:hs:bp:gene</idno>
<idno type="wicri:Area/Main/Merge">004728</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:06-0208436</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001C08</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001113</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001A80</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Higgins J:hs:bp:gene</idno>
<idno type="wicri:Area/Main/Merge">004B75</idno>
<idno type="wicri:Area/Main/Curation">003414</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">HS1‐BP3 gene variant is common in familial essential tremor</title>
<author><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph J." last="Higgins">Joseph J. Higgins</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni Q." last="Lombardi">Roni Q. Lombardi</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pucilowska, Joanna" sort="Pucilowska, Joanna" uniqKey="Pucilowska J" first="Joanna" last="Pucilowska">Joanna Pucilowska</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, New Brunswick, New Jersey</wicri:regionArea>
<placeName><region type="state">New Jersey</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois</wicri:regionArea>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2006-03">2006-03</date>
<biblScope unit="vol">21</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="306">306</biblScope>
<biblScope unit="page" to="309">309</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3</idno>
<idno type="DOI">10.1002/mds.20692</idno>
<idno type="ArticleID">MDS20692</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>14‐3‐3 proteins</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Chromosome</term>
<term>Chromosomes, Human, Pair 2 (genetics)</term>
<term>DNA Primers (genetics)</term>
<term>Essential Tremor (genetics)</term>
<term>Essential Tremor (physiopathology)</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Genetic Variation (genetics)</term>
<term>Genotype</term>
<term>Human</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Polymerase Chain Reaction</term>
<term>Posture (physiology)</term>
<term>Protein</term>
<term>Tremor</term>
<term>chromosomes</term>
<term>essential tremor</term>
<term>human</term>
<term>missense</term>
<term>mutation</term>
<term>pair 2</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term>
<term>Nerve Tissue Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 2</term>
<term>Essential Tremor</term>
<term>Exons</term>
<term>Genetic Variation</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Posture</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Essential Tremor</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Polymerase Chain Reaction</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Chromosome</term>
<term>Homme</term>
<term>Mutation</term>
<term>Parkinson maladie</term>
<term>Protéine</term>
<term>Système nerveux pathologie</term>
<term>Tremblement</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C→G) in exon 7 of the hematopoietic‐specific protein 1 binding protein 3 gene (HS1‐BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C→G variant in exon 7 of the HS1‐BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild‐type allele. The 828C→G genetic variant in the HS1‐BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1‐BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown. © 2005 Movement Disorder Society</div>
</front>
</TEI>
<double idat="0885-3185:2006:Higgins J:hs:bp:gene"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">HS1-BP3 gene variant is common in familial essential tremor</title>
<author><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph J." last="Higgins">Joseph J. Higgins</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute</s1>
<s2>New Paltz, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni Q." last="Lombardi">Roni Q. Lombardi</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute</s1>
<s2>New Paltz, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pucilowska, Joanna" sort="Pucilowska, Joanna" uniqKey="Pucilowska J" first="Joanna" last="Pucilowska">Joanna Pucilowska</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute</s1>
<s2>New Paltz, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine</s1>
<s2>Houston, Texas</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School</s1>
<s2>New Brunswick, New Jersey</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">New Jersey</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Department of Neurological Sciences, Rush University Medical Center</s1>
<s2>Chicago, Illinois</s2>
<s3>USA</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">06-0208436</idno>
<date when="2006">2006</date>
<idno type="stanalyst">PASCAL 06-0208436 INIST</idno>
<idno type="RBID">Pascal:06-0208436</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001C08</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001113</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001A80</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Higgins J:hs:bp:gene</idno>
<idno type="wicri:Area/Main/Merge">004B75</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">HS1-BP3 gene variant is common in familial essential tremor</title>
<author><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph J." last="Higgins">Joseph J. Higgins</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute</s1>
<s2>New Paltz, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni Q." last="Lombardi">Roni Q. Lombardi</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute</s1>
<s2>New Paltz, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pucilowska, Joanna" sort="Pucilowska, Joanna" uniqKey="Pucilowska J" first="Joanna" last="Pucilowska">Joanna Pucilowska</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Center for Human Genetics and Child Neurology, Mid-Hudson Family Health Institute</s1>
<s2>New Paltz, New York</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine</s1>
<s2>Houston, Texas</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School</s1>
<s2>New Brunswick, New Jersey</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">New Jersey</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>Department of Neurological Sciences, Rush University Medical Center</s1>
<s2>Chicago, Illinois</s2>
<s3>USA</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2006">2006</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome</term>
<term>Human</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Protein</term>
<term>Tremor</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Tremblement</term>
<term>Parkinson maladie</term>
<term>Chromosome</term>
<term>Homme</term>
<term>Mutation</term>
<term>Protéine</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head. or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C→G) in exon 7 of the hematopoietic-specific protein 1 binding protein 3 gene (HS1-BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET. 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C→G variant in exon 7 of the HS1-BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild-type allele. The 828C→G genetic variant in the HS1-BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown.</div>
</front>
</TEI>
</INIST>
<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">HS1‐BP3 gene variant is common in familial essential tremor</title>
<author><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph J." last="Higgins">Joseph J. Higgins</name>
</author>
<author><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni Q." last="Lombardi">Roni Q. Lombardi</name>
</author>
<author><name sortKey="Pucilowska, Joanna" sort="Pucilowska, Joanna" uniqKey="Pucilowska J" first="Joanna" last="Pucilowska">Joanna Pucilowska</name>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation><country>États-Unis</country>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name>
</author>
<author><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3</idno>
<date when="2006" year="2006">2006</date>
<idno type="doi">10.1002/mds.20692</idno>
<idno type="url">https://api.istex.fr/document/2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001844</idno>
<idno type="wicri:Area/Istex/Curation">001844</idno>
<idno type="wicri:Area/Istex/Checkpoint">001E74</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Higgins J:hs:bp:gene</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:16211613</idno>
<idno type="wicri:Area/PubMed/Corpus">002E42</idno>
<idno type="wicri:Area/PubMed/Curation">002E42</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002D06</idno>
<idno type="wicri:Area/Ncbi/Merge">001486</idno>
<idno type="wicri:Area/Ncbi/Curation">001486</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001486</idno>
<idno type="wicri:doubleKey">0885-3185:2006:Higgins J:hs:bp:gene</idno>
<idno type="wicri:Area/Main/Merge">004728</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">HS1‐BP3 gene variant is common in familial essential tremor</title>
<author><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph J." last="Higgins">Joseph J. Higgins</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni Q." last="Lombardi">Roni Q. Lombardi</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pucilowska, Joanna" sort="Pucilowska, Joanna" uniqKey="Pucilowska J" first="Joanna" last="Pucilowska">Joanna Pucilowska</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
<placeName><settlement type="city">Houston</settlement>
<region type="state">Texas</region>
</placeName>
<orgName type="university" n="3">Baylor College of Medicine</orgName>
</affiliation>
</author>
<author><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, New Brunswick, New Jersey</wicri:regionArea>
<placeName><region type="state">New Jersey</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois</wicri:regionArea>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2006-03">2006-03</date>
<biblScope unit="vol">21</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="306">306</biblScope>
<biblScope unit="page" to="309">309</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3</idno>
<idno type="DOI">10.1002/mds.20692</idno>
<idno type="ArticleID">MDS20692</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>14‐3‐3 proteins</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Chromosomes, Human, Pair 2 (genetics)</term>
<term>DNA Primers (genetics)</term>
<term>Essential Tremor (genetics)</term>
<term>Essential Tremor (physiopathology)</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Genetic Variation (genetics)</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Parkinson disease</term>
<term>Polymerase Chain Reaction</term>
<term>Posture (physiology)</term>
<term>chromosomes</term>
<term>essential tremor</term>
<term>human</term>
<term>missense</term>
<term>mutation</term>
<term>pair 2</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term>
<term>Nerve Tissue Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 2</term>
<term>Essential Tremor</term>
<term>Exons</term>
<term>Genetic Variation</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Posture</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Essential Tremor</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Polymerase Chain Reaction</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C→G) in exon 7 of the hematopoietic‐specific protein 1 binding protein 3 gene (HS1‐BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C→G variant in exon 7 of the HS1‐BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild‐type allele. The 828C→G genetic variant in the HS1‐BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1‐BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown. © 2005 Movement Disorder Society</div>
</front>
</TEI>
</ISTEX>
</double>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003414 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 003414 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Main |étape= Curation |type= RBID |clé= ISTEX:2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3 |texte= HS1‐BP3 gene variant is common in familial essential tremor }}
This area was generated with Dilib version V0.6.23. |