Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families.
Identifieur interne : 002979 ( PubMed/Curation ); précédent : 002978; suivant : 002980Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families.
Auteurs : Lianna Ishihara [Royaume-Uni] ; Rachel A. Gibson ; Liling Warren ; Rim Amouri ; Kelly Lyons ; Catherine Wielinski ; Christine Hunter ; Jina E. Swartz ; Ramu Elango ; P Anthony Akkari ; David Leppert ; Linda Surh ; Kevin H. Reeves ; Siwan Thomas ; Leigh Ragone ; Nobutaka Hattori ; Rajesh Pahwa ; Joseph Jankovic ; Martha Nance ; Alan Freeman ; Neziha Gouider-Khouja ; Mounir Kefi ; Mourad Zouari ; Samia Ben Sassi ; Samia Ben Yahmed ; Ghada El Euch-Fayeche ; Lefkos Middleton ; David J. Burn ; Ray L. Watts ; Faycal HentatiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : Tunisie.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Cross-Cultural Comparison, DNA Mutational Analysis, European Continental Ancestry Group, Family Health, Female, Genetic Testing (methods), Genotype, Glycine (genetics), Humans, Male, Middle Aged, Mutation (genetics), North America (epidemiology), North America (ethnology), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Serine (genetics), Tunisia (epidemiology), Tunisia (ethnology).
- MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine.
- geographic , epidemiology : North America, Tunisia.
- geographic , ethnology : North America, Tunisia.
- epidemiology : Parkinson Disease.
- genetics : Mutation, Parkinson Disease.
- methods : Genetic Testing.
- Adult, Aged, Aged, 80 and over, Cross-Cultural Comparison, DNA Mutational Analysis, European Continental Ancestry Group, Family Health, Female, Genotype, Humans, Male, Middle Aged.
Abstract
Mutations in the leucine-rich repeat kinase-2 gene (LRRK2) are responsible for some forms of familial as well as sporadic Parkinson's disease (PD). The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G > A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation. Standardized case report forms were used for clinical and demographic data collection. We investigated the frequency of the most common substitution of LRRK2 (G2019S, 6055G>A) and its impact on epidemiological and phenotypic features. The frequency of mutations in Tunisian families was 42% (38/91) and in U.S. families 2.6% (1/39), with the unique opportunity to compare homozygous (n = 23) and heterozygous (n = 109) Tunisian carriers of G2019S substitutions. Individuals with G2019S substitutions had an older age at onset but few other differences compared with families negative for the substitution. Patients with LRRK2 mutations had typical clinical features of PD. Comparisons between individuals with heterozygous and homozygous LRRK2 mutations suggested that gene dosage was not correlated with phenotypic differences; however, the estimated penetrance was greater in homozygotes across all age groups.
DOI: 10.1002/mds.21180
PubMed: 17115391
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Gibson</name></author><author><name sortKey="Warren, Liling" sort="Warren, Liling" uniqKey="Warren L" first="Liling" last="Warren">Liling Warren</name></author><author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name></author><author><name sortKey="Lyons, Kelly" sort="Lyons, Kelly" uniqKey="Lyons K" first="Kelly" last="Lyons">Kelly Lyons</name></author><author><name sortKey="Wielinski, Catherine" sort="Wielinski, Catherine" uniqKey="Wielinski C" first="Catherine" last="Wielinski">Catherine Wielinski</name></author><author><name sortKey="Hunter, Christine" sort="Hunter, Christine" uniqKey="Hunter C" first="Christine" last="Hunter">Christine Hunter</name></author><author><name sortKey="Swartz, Jina E" sort="Swartz, Jina E" uniqKey="Swartz J" first="Jina E" last="Swartz">Jina E. Swartz</name></author><author><name sortKey="Elango, Ramu" sort="Elango, Ramu" uniqKey="Elango R" first="Ramu" last="Elango">Ramu Elango</name></author><author><name sortKey="Akkari, P Anthony" sort="Akkari, P Anthony" uniqKey="Akkari P" first="P Anthony" last="Akkari">P Anthony Akkari</name></author><author><name sortKey="Leppert, David" sort="Leppert, David" uniqKey="Leppert D" first="David" last="Leppert">David Leppert</name></author><author><name sortKey="Surh, Linda" sort="Surh, Linda" uniqKey="Surh L" first="Linda" last="Surh">Linda Surh</name></author><author><name sortKey="Reeves, Kevin H" sort="Reeves, Kevin H" uniqKey="Reeves K" first="Kevin H" last="Reeves">Kevin H. Reeves</name></author><author><name sortKey="Thomas, Siwan" sort="Thomas, Siwan" uniqKey="Thomas S" first="Siwan" last="Thomas">Siwan Thomas</name></author><author><name sortKey="Ragone, Leigh" sort="Ragone, Leigh" uniqKey="Ragone L" first="Leigh" last="Ragone">Leigh Ragone</name></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></author><author><name sortKey="Pahwa, Rajesh" sort="Pahwa, Rajesh" uniqKey="Pahwa R" first="Rajesh" last="Pahwa">Rajesh Pahwa</name></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name></author><author><name sortKey="Nance, Martha" sort="Nance, Martha" uniqKey="Nance M" first="Martha" last="Nance">Martha Nance</name></author><author><name sortKey="Freeman, Alan" sort="Freeman, Alan" uniqKey="Freeman A" first="Alan" last="Freeman">Alan Freeman</name></author><author><name sortKey="Gouider Khouja, Neziha" sort="Gouider Khouja, Neziha" uniqKey="Gouider Khouja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name></author><author><name sortKey="Kefi, Mounir" sort="Kefi, Mounir" uniqKey="Kefi M" first="Mounir" last="Kefi">Mounir Kefi</name></author><author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name></author><author><name sortKey="Ben Sassi, Samia" sort="Ben Sassi, Samia" uniqKey="Ben Sassi S" first="Samia" last="Ben Sassi">Samia Ben Sassi</name></author><author><name sortKey="Ben Yahmed, Samia" sort="Ben Yahmed, Samia" uniqKey="Ben Yahmed S" first="Samia" last="Ben Yahmed">Samia Ben Yahmed</name></author><author><name sortKey="El Euch Fayeche, Ghada" sort="El Euch Fayeche, Ghada" uniqKey="El Euch Fayeche G" first="Ghada" last="El Euch-Fayeche">Ghada El Euch-Fayeche</name></author><author><name sortKey="Middleton, Lefkos" sort="Middleton, Lefkos" uniqKey="Middleton L" first="Lefkos" last="Middleton">Lefkos Middleton</name></author><author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name></author><author><name sortKey="Watts, Ray L" sort="Watts, Ray L" uniqKey="Watts R" first="Ray L" last="Watts">Ray L. Watts</name></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Cross-Cultural Comparison</term><term>DNA Mutational Analysis</term><term>European Continental Ancestry Group</term><term>Family Health</term><term>Female</term><term>Genetic Testing (methods)</term><term>Genotype</term><term>Glycine (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>North America (epidemiology)</term><term>North America (ethnology)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Serine (genetics)</term><term>Tunisia (epidemiology)</term><term>Tunisia (ethnology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glycine</term><term>Protein-Serine-Threonine Kinases</term><term>Serine</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>North America</term><term>Tunisia</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>North America</term><term>Tunisia</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Cross-Cultural Comparison</term><term>DNA Mutational Analysis</term><term>European Continental Ancestry Group</term><term>Family Health</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Tunisie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the leucine-rich repeat kinase-2 gene (LRRK2) are responsible for some forms of familial as well as sporadic Parkinson's disease (PD). The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G > A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation. Standardized case report forms were used for clinical and demographic data collection. We investigated the frequency of the most common substitution of LRRK2 (G2019S, 6055G>A) and its impact on epidemiological and phenotypic features. The frequency of mutations in Tunisian families was 42% (38/91) and in U.S. families 2.6% (1/39), with the unique opportunity to compare homozygous (n = 23) and heterozygous (n = 109) Tunisian carriers of G2019S substitutions. Individuals with G2019S substitutions had an older age at onset but few other differences compared with families negative for the substitution. Patients with LRRK2 mutations had typical clinical features of PD. Comparisons between individuals with heterozygous and homozygous LRRK2 mutations suggested that gene dosage was not correlated with phenotypic differences; however, the estimated penetrance was greater in homozygotes across all age groups.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17115391</PMID><DateCreated><Year>2007</Year><Month>01</Month><Day>29</Day></DateCreated><DateCompleted><Year>2007</Year><Month>04</Month><Day>05</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>1</Issue><PubDate><Year>2007</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families.</ArticleTitle><Pagination><MedlinePgn>55-61</MedlinePgn></Pagination><Abstract><AbstractText>Mutations in the leucine-rich repeat kinase-2 gene (LRRK2) are responsible for some forms of familial as well as sporadic Parkinson's disease (PD). The purpose of this study was to examine the frequency of a single pathogenic mutation (6055G > A) in the kinase domain of this gene in United States and Tunisian familial PD and to compare clinical characteristics between patients with and without the mutation. Standardized case report forms were used for clinical and demographic data collection. We investigated the frequency of the most common substitution of LRRK2 (G2019S, 6055G>A) and its impact on epidemiological and phenotypic features. The frequency of mutations in Tunisian families was 42% (38/91) and in U.S. families 2.6% (1/39), with the unique opportunity to compare homozygous (n = 23) and heterozygous (n = 109) Tunisian carriers of G2019S substitutions. Individuals with G2019S substitutions had an older age at onset but few other differences compared with families negative for the substitution. Patients with LRRK2 mutations had typical clinical features of PD. Comparisons between individuals with heterozygous and homozygous LRRK2 mutations suggested that gene dosage was not correlated with phenotypic differences; however, the estimated penetrance was greater in homozygotes across all age groups.</AbstractText><CopyrightInformation>Copyright 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ishihara</LastName><ForeName>Lianna</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom. lsi20@medschl.com.ac.uk</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gibson</LastName><ForeName>Rachel A</ForeName><Initials>RA</Initials></Author><Author ValidYN="Y"><LastName>Warren</LastName><ForeName>Liling</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Amouri</LastName><ForeName>Rim</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Lyons</LastName><ForeName>Kelly</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Wielinski</LastName><ForeName>Catherine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Hunter</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Swartz</LastName><ForeName>Jina E</ForeName><Initials>JE</Initials></Author><Author ValidYN="Y"><LastName>Elango</LastName><ForeName>Ramu</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Akkari</LastName><ForeName>P Anthony</ForeName><Initials>PA</Initials></Author><Author ValidYN="Y"><LastName>Leppert</LastName><ForeName>David</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Surh</LastName><ForeName>Linda</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Reeves</LastName><ForeName>Kevin H</ForeName><Initials>KH</Initials></Author><Author ValidYN="Y"><LastName>Thomas</LastName><ForeName>Siwan</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Ragone</LastName><ForeName>Leigh</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Hattori</LastName><ForeName>Nobutaka</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Pahwa</LastName><ForeName>Rajesh</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>Joseph</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Nance</LastName><ForeName>Martha</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Freeman</LastName><ForeName>Alan</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Gouider-Khouja</LastName><ForeName>Neziha</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Kefi</LastName><ForeName>Mounir</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Zouari</LastName><ForeName>Mourad</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Ben Sassi</LastName><ForeName>Samia</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Ben Yahmed</LastName><ForeName>Samia</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>El Euch-Fayeche</LastName><ForeName>Ghada</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Middleton</LastName><ForeName>Lefkos</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Burn</LastName><ForeName>David J</ForeName><Initials>DJ</Initials></Author><Author ValidYN="Y"><LastName>Watts</LastName><ForeName>Ray L</ForeName><Initials>RL</Initials></Author><Author ValidYN="Y"><LastName>Hentati</LastName><ForeName>Faycal</ForeName><Initials>F</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>452VLY9402</RegistryNumber><NameOfSubstance UI="D012694">Serine</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C495280">LRRK2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>TE7660XO1C</RegistryNumber><NameOfSubstance UI="D005998">Glycine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName 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PubStatus="pubmed"><Year>2006</Year><Month>11</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>4</Month><Day>6</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>11</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21180</ArticleId><ArticleId IdType="pubmed">17115391</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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