G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
Identifieur interne : 000F23 ( PubMed/Corpus ); précédent : 000F22; suivant : 000F24G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
Auteurs : Suzanne Lesage ; Pablo Ibanez ; Ebba Lohmann ; Pierre Pollak ; François Tison ; Myriem Tazir ; Anne-Louise Leutenegger ; Joao Guimaraes ; Anne-Marie Bonnet ; Yves Agid ; Alexandra Dürr ; Alexis BriceSource :
- Annals of neurology [ 0364-5134 ] ; 2005.
English descriptors
- KwdEn :
- Adult, Africa, Northern (epidemiology), Africa, Northern (ethnology), Aged, Aged, 80 and over, DNA Mutational Analysis (methods), Family Health, Female, France (epidemiology), France (ethnology), Gene Frequency, Genetic Predisposition to Disease, Genotype, Glycine (genetics), Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Mental Status Schedule (statistics & numerical data), Middle Aged, Mutation, Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Serine (genetics).
- MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine.
- epidemiology : Africa, Northern, France.
- ethnology : Africa, Northern, France.
- genetics : Parkinson Disease.
- methods : DNA Mutational Analysis.
- statistics & numerical data : Mental Status Schedule.
- Adult, Aged, Aged, 80 and over, Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation.
Abstract
Mutations in LRRK2 were recently identified in autosomal dominant Parkinson's disease (PD), including the G2019S mutation. To evaluate its frequency, we analyzed 198 probands with autosomal dominant PD, mostly from France and North Africa. Surprisingly, the frequency in North African families (7/17, 41%) was greater than those from Europe (5/174, 2.9%). The clinical features in 21 patients, including 1 with a homozygous mutation, were those of typical PD, with lower Mini-Mental State Examination scores. There were also 15 unaffected mutation carriers, aged 32 to 74 years. LRRK2 mutations appear to be a common cause of autosomal dominant PD, particularly in North Africa.
DOI: 10.1002/ana.20636
PubMed: 16240353
Links to Exploration step
pubmed:16240353Le document en format XML
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Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Tazir, Myriem" sort="Tazir, Myriem" uniqKey="Tazir M" first="Myriem" last="Tazir">Myriem Tazir</name></author><author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name></author><author><name sortKey="Guimaraes, Joao" sort="Guimaraes, Joao" uniqKey="Guimaraes J" first="Joao" last="Guimaraes">Joao Guimaraes</name></author><author><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name 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de Paris.</nlm:affiliation></affiliation></author><author><name sortKey="Ibanez, Pablo" sort="Ibanez, Pablo" uniqKey="Ibanez P" first="Pablo" last="Ibanez">Pablo Ibanez</name></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></author><author><name sortKey="Pollak, Pierre" sort="Pollak, Pierre" uniqKey="Pollak P" first="Pierre" last="Pollak">Pierre Pollak</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Tazir, Myriem" sort="Tazir, Myriem" uniqKey="Tazir M" first="Myriem" last="Tazir">Myriem Tazir</name></author><author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name></author><author><name sortKey="Guimaraes, Joao" sort="Guimaraes, Joao" uniqKey="Guimaraes J" first="Joao" last="Guimaraes">Joao Guimaraes</name></author><author><name sortKey="Bonnet, Anne Marie" sort="Bonnet, Anne Marie" uniqKey="Bonnet A" first="Anne-Marie" last="Bonnet">Anne-Marie Bonnet</name></author><author><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" last="Agid">Yves Agid</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></analytic><series><title level="j">Annals of neurology</title><idno type="ISSN">0364-5134</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Africa, Northern (epidemiology)</term><term>Africa, Northern (ethnology)</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis (methods)</term><term>Family Health</term><term>Female</term><term>France (epidemiology)</term><term>France (ethnology)</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Glycine (genetics)</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Mental Status Schedule (statistics & numerical data)</term><term>Middle Aged</term><term>Mutation</term><term>Parkinson Disease (genetics)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Serine (genetics)</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" qualifier="epidemiology" xml:lang="en"><term>Africa, Northern</term><term>France</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Africa, Northern</term><term>France</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Mental Status Schedule</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Family Health</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in LRRK2 were recently identified in autosomal dominant Parkinson's disease (PD), including the G2019S mutation. To evaluate its frequency, we analyzed 198 probands with autosomal dominant PD, mostly from France and North Africa. Surprisingly, the frequency in North African families (7/17, 41%) was greater than those from Europe (5/174, 2.9%). The clinical features in 21 patients, including 1 with a homozygous mutation, were those of typical PD, with lower Mini-Mental State Examination scores. There were also 15 unaffected mutation carriers, aged 32 to 74 years. LRRK2 mutations appear to be a common cause of autosomal dominant PD, particularly in North Africa.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">16240353</PMID><DateCreated><Year>2005</Year><Month>10</Month><Day>31</Day></DateCreated><DateCompleted><Year>2006</Year><Month>03</Month><Day>14</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0364-5134</ISSN><JournalIssue CitedMedium="Print"><Volume>58</Volume><Issue>5</Issue><PubDate><Year>2005</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Annals of neurology</Title><ISOAbbreviation>Ann. Neurol.</ISOAbbreviation></Journal><ArticleTitle>G2019S LRRK2 mutation in French and North African families with Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>784-7</MedlinePgn></Pagination><Abstract><AbstractText>Mutations in LRRK2 were recently identified in autosomal dominant Parkinson's disease (PD), including the G2019S mutation. To evaluate its frequency, we analyzed 198 probands with autosomal dominant PD, mostly from France and North Africa. Surprisingly, the frequency in North African families (7/17, 41%) was greater than those from Europe (5/174, 2.9%). The clinical features in 21 patients, including 1 with a homozygous mutation, were those of typical PD, with lower Mini-Mental State Examination scores. There were also 15 unaffected mutation carriers, aged 32 to 74 years. LRRK2 mutations appear to be a common cause of autosomal dominant PD, particularly in North Africa.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lesage</LastName><ForeName>Suzanne</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Institut National de la Sante et de la Recherche Médicale U679 (formerly U289), Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ibanez</LastName><ForeName>Pablo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>Ebba</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Pollak</LastName><ForeName>Pierre</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Tison</LastName><ForeName>François</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Tazir</LastName><ForeName>Myriem</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Leutenegger</LastName><ForeName>Anne-Louise</ForeName><Initials>AL</Initials></Author><Author ValidYN="Y"><LastName>Guimaraes</LastName><ForeName>Joao</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Bonnet</LastName><ForeName>Anne-Marie</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Agid</LastName><ForeName>Yves</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><CollectiveName>French Parkinson's Disease Genetics Study Group</CollectiveName></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><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>Ann Neurol</MedlineTA><NlmUniqueID>7707449</NlmUniqueID><ISSNLinking>0364-5134</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="D000071158">Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D017346">Protein-Serine-Threonine Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>TE7660XO1C</RegistryNumber><NameOfSubstance 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Kinase-2</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008609" MajorTopicYN="N">Mental Status Schedule</DescriptorName><QualifierName UI="Q000706" MajorTopicYN="N">statistics & numerical data</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017346" MajorTopicYN="N">Protein-Serine-Threonine Kinases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012694" MajorTopicYN="N">Serine</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>10</Month><Day>22</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>3</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>10</Month><Day>22</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">16240353</ArticleId><ArticleId IdType="doi">10.1002/ana.20636</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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