Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early‐onset Parkinson's Disease
Identifieur interne : 001225 ( Main/Corpus ); précédent : 001224; suivant : 001226Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early‐onset Parkinson's Disease
Auteurs : J. M. Hertz ; K. Stergaard ; I. Juncker ; S. Pedersen ; A. Romstad ; L. B. M Ller ; F. Güttler ; E. DupontSource :
- European Journal of Neurology [ 1351-5101 ] ; 2006-04.
English descriptors
- KwdEn :
Abstract
Autosomal recessive Parkinson's disease (PD) with early‐onset may be caused by mutations in the parkin gene (PARK2). We have ascertained 87 Danish patients with an early‐onset form of PD (age at onset ≤40 years, or ≤50 years if family history is positive) in a multicenter study in order to determine the frequency of PARK2 mutations. Analysis of the GTP cyclohydrolase I gene (GCH1) and the tyrosine hydroxylase gene (TH), mutated in dopa‐responsive dystonia and juvenile PD, have also been included. Ten different PARK2 mutations were identified in 10 patients. Two of the patients (2.3%) were found to have homozygous or compound heterozygous mutations, and eight of the patients (9.2%) were found to be heterozygous. A mutation has been identified in 10.4% of the sporadic cases and in 15.0% of cases with a positive family history of PD. One patient was found to be heterozygous for both a PARK2 mutation and a missense mutation (A6T) in TH of unknown significance. It cannot be excluded that both mutations contribute to the phenotype. No other putative disease causing TH or GCH1 mutations were found. In conclusion, homozygous, or compound heterozygous PARK2 mutations, and mutations in GCH1 and TH, are rare even in a population of PD patients with early‐onset of the disease.
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DOI: 10.1111/j.1468-1331.2006.01249.x
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<front><div type="abstract" xml:lang="en">Autosomal recessive Parkinson's disease (PD) with early‐onset may be caused by mutations in the parkin gene (PARK2). We have ascertained 87 Danish patients with an early‐onset form of PD (age at onset ≤40 years, or ≤50 years if family history is positive) in a multicenter study in order to determine the frequency of PARK2 mutations. Analysis of the GTP cyclohydrolase I gene (GCH1) and the tyrosine hydroxylase gene (TH), mutated in dopa‐responsive dystonia and juvenile PD, have also been included. Ten different PARK2 mutations were identified in 10 patients. Two of the patients (2.3%) were found to have homozygous or compound heterozygous mutations, and eight of the patients (9.2%) were found to be heterozygous. A mutation has been identified in 10.4% of the sporadic cases and in 15.0% of cases with a positive family history of PD. One patient was found to be heterozygous for both a PARK2 mutation and a missense mutation (A6T) in TH of unknown significance. It cannot be excluded that both mutations contribute to the phenotype. No other putative disease causing TH or GCH1 mutations were found. In conclusion, homozygous, or compound heterozygous PARK2 mutations, and mutations in GCH1 and TH, are rare even in a population of PD patients with early‐onset of the disease.</div>
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<correspondenceTo>Jens Michael Hertz, Department of Clinical Genetics, Aarhus University Hospital, The Bartholin Building, DK‐8000 Aarhus C, Denmark (tel.: +45 89 49 43 65; fax: +45 89 49 43 70; e‐mail: <email>jmher@as.aaa.dk</email>
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<contentMeta><unparsedEditorialHistory>Received 31 January 2005 Accepted 26 April 2005</unparsedEditorialHistory>
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<familyName>Juncker</familyName>
</personName>
</creator>
<creator creatorRole="author" xml:id="cr4" affiliationRef="#a1"><personName><givenNames>S.</givenNames>
<familyName>Pedersen</familyName>
</personName>
</creator>
<creator creatorRole="author" xml:id="cr5" affiliationRef="#a3"><personName><givenNames>A.</givenNames>
<familyName>Romstad</familyName>
</personName>
</creator>
<creator creatorRole="author" xml:id="cr6" affiliationRef="#a3"><personName><givenNames>L. B.</givenNames>
<familyName>Møller</familyName>
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<creator creatorRole="author" xml:id="cr7" affiliationRef="#a3"><personName><givenNames>F.</givenNames>
<familyName>Güttler</familyName>
</personName>
</creator>
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<familyName>Dupont</familyName>
</personName>
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<affiliationGroup><affiliation xml:id="a1" countryCode="DK"><unparsedAffiliation>Department of Clinical Genetics, Aarhus University Hospital, Aarhus C, Denmark</unparsedAffiliation>
</affiliation>
<affiliation xml:id="a2" countryCode="DK"><unparsedAffiliation>Department of Neurology, Aarhus University Hospital, Aarhus C, Denmark</unparsedAffiliation>
</affiliation>
<affiliation xml:id="a3" countryCode="DK"><unparsedAffiliation>The John F. Kennedy Institute, Glostrup, Denmark</unparsedAffiliation>
</affiliation>
</affiliationGroup>
<keywordGroup xml:lang="en"><keyword xml:id="k1">early‐onset</keyword>
<keyword xml:id="k2"><i>GCH1</i>
</keyword>
<keyword xml:id="k3">mutation analysis</keyword>
<keyword xml:id="k4"><i>PARK2</i>
</keyword>
<keyword xml:id="k5"><i>Parkin</i>
</keyword>
<keyword xml:id="k6">Parkinson's disease</keyword>
<keyword xml:id="k7"><i>TH</i>
</keyword>
</keywordGroup>
<abstractGroup><abstract type="main" xml:lang="en"><p>Autosomal recessive Parkinson's disease (PD) with early‐onset may be caused by mutations in the <i>parkin</i>
gene (<i>PARK2</i>
). We have ascertained 87 Danish patients with an early‐onset form of PD (age at onset ≤40 years, or ≤50 years if family history is positive) in a multicenter study in order to determine the frequency of <i>PARK2</i>
mutations. Analysis of the <i>GTP cyclohydrolase I</i>
gene (<i>GCH1</i>
) and the <i>tyrosine hydroxylase</i>
gene (<i>TH</i>
), mutated in dopa‐responsive dystonia and juvenile PD, have also been included. Ten different <i>PARK2</i>
mutations were identified in 10 patients. Two of the patients (2.3%) were found to have homozygous or compound heterozygous mutations, and eight of the patients (9.2%) were found to be heterozygous. A mutation has been identified in 10.4% of the sporadic cases and in 15.0% of cases with a positive family history of PD. One patient was found to be heterozygous for both a <i>PARK2</i>
mutation and a missense mutation (A6T) in <i>TH</i>
of unknown significance. It cannot be excluded that both mutations contribute to the phenotype. No other putative disease causing <i>TH</i>
or <i>GCH1</i>
mutations were found. In conclusion, homozygous, or compound heterozygous <i>PARK2</i>
mutations, and mutations in <i>GCH1</i>
and <i>TH</i>
, are rare even in a population of PD patients with early‐onset of the disease.</p>
</abstract>
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<mods version="3.6"><titleInfo lang="en"><title>Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early‐onset Parkinson's Disease</title>
</titleInfo>
<titleInfo type="abbreviated"><title>Low frequency of PARK2, GCH1, and TH mutations</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Low frequency of</title>
</titleInfo>
<name type="personal"><namePart type="given">J. M.</namePart>
<namePart type="family">Hertz</namePart>
<affiliation>Department of Clinical Genetics, Aarhus University Hospital, Aarhus C, Denmark</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">K.</namePart>
<namePart type="family">Østergaard</namePart>
<affiliation>Department of Neurology, Aarhus University Hospital, Aarhus C, Denmark</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">I.</namePart>
<namePart type="family">Juncker</namePart>
<affiliation>Department of Clinical Genetics, Aarhus University Hospital, Aarhus C, Denmark</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">S.</namePart>
<namePart type="family">Pedersen</namePart>
<affiliation>Department of Clinical Genetics, Aarhus University Hospital, Aarhus C, Denmark</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">A.</namePart>
<namePart type="family">Romstad</namePart>
<affiliation>The John F. Kennedy Institute, Glostrup, Denmark</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">L. B.</namePart>
<namePart type="family">Møller</namePart>
<affiliation>The John F. Kennedy Institute, Glostrup, Denmark</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">F.</namePart>
<namePart type="family">Güttler</namePart>
<affiliation>The John F. Kennedy Institute, Glostrup, Denmark</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">E.</namePart>
<namePart type="family">Dupont</namePart>
<affiliation>Department of Neurology, Aarhus University Hospital, Aarhus C, Denmark</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<typeOfResource>text</typeOfResource>
<genre type="article" displayLabel="article"></genre>
<originInfo><publisher>Blackwell Publishing Ltd</publisher>
<place><placeTerm type="text">Oxford, UK</placeTerm>
</place>
<dateIssued encoding="w3cdtf">2006-04</dateIssued>
<edition>Received 31 January 2005 Accepted 26 April 2005</edition>
<copyrightDate encoding="w3cdtf">2006</copyrightDate>
</originInfo>
<language><languageTerm type="code" authority="rfc3066">en</languageTerm>
<languageTerm type="code" authority="iso639-2b">eng</languageTerm>
</language>
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<abstract lang="en">Autosomal recessive Parkinson's disease (PD) with early‐onset may be caused by mutations in the parkin gene (PARK2). We have ascertained 87 Danish patients with an early‐onset form of PD (age at onset ≤40 years, or ≤50 years if family history is positive) in a multicenter study in order to determine the frequency of PARK2 mutations. Analysis of the GTP cyclohydrolase I gene (GCH1) and the tyrosine hydroxylase gene (TH), mutated in dopa‐responsive dystonia and juvenile PD, have also been included. Ten different PARK2 mutations were identified in 10 patients. Two of the patients (2.3%) were found to have homozygous or compound heterozygous mutations, and eight of the patients (9.2%) were found to be heterozygous. A mutation has been identified in 10.4% of the sporadic cases and in 15.0% of cases with a positive family history of PD. One patient was found to be heterozygous for both a PARK2 mutation and a missense mutation (A6T) in TH of unknown significance. It cannot be excluded that both mutations contribute to the phenotype. No other putative disease causing TH or GCH1 mutations were found. In conclusion, homozygous, or compound heterozygous PARK2 mutations, and mutations in GCH1 and TH, are rare even in a population of PD patients with early‐onset of the disease.</abstract>
<subject lang="en"><genre>Keywords</genre>
<topic>early‐onset</topic>
<topic>GCH1</topic>
<topic>mutation analysis</topic>
<topic>PARK2</topic>
<topic>Parkin</topic>
<topic>Parkinson's disease</topic>
<topic>TH</topic>
</subject>
<relatedItem type="host"><titleInfo><title>European Journal of Neurology</title>
</titleInfo>
<genre type="Journal">journal</genre>
<identifier type="ISSN">1351-5101</identifier>
<identifier type="eISSN">1468-1331</identifier>
<identifier type="DOI">10.1111/(ISSN)1468-1331</identifier>
<identifier type="PublisherID">ENE</identifier>
<part><date>2006</date>
<detail type="volume"><caption>vol.</caption>
<number>13</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>4</number>
</detail>
<extent unit="pages"><start>385</start>
<end>390</end>
<total>6</total>
</extent>
</part>
</relatedItem>
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<identifier type="DOI">10.1111/j.1468-1331.2006.01249.x</identifier>
<identifier type="ArticleID">ENE1249</identifier>
<recordInfo><recordContentSource>WILEY</recordContentSource>
<recordOrigin>Blackwell Publishing Ltd</recordOrigin>
</recordInfo>
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