A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
Identifieur interne : 000891 ( Ncbi/Merge ); précédent : 000890; suivant : 000892A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
Auteurs : Ebba Lohmann [France] ; Laurence Leclere ; Francesca De Anna ; Suzanne Lesage ; Bruno Dubois ; Yves Agid [France] ; Alexandra Dürr ; Alexis BriceSource :
- Parkinsonism & related disorders [ 1873-5126 ] ; 2009.
English descriptors
- KwdEn :
- Aged, DNA Mutational Analysis (methods), Family Health, Female, France, Genetic Predisposition to Disease, Glycine (genetics), Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation (genetics), Neuropsychological Tests, Olfaction Disorders (etiology), Olfaction Disorders (genetics), Olfaction Disorders (psychology), Parkinson Disease (complications), Parkinson Disease (genetics), Parkinson Disease (psychology), Protein-Serine-Threonine Kinases (genetics), Serine (genetics).
- MESH :
- chemical , genetics : Glycine, Protein-Serine-Threonine Kinases, Serine.
- complications : Parkinson Disease.
- etiology : Olfaction Disorders.
- genetics : Mutation, Olfaction Disorders, Parkinson Disease.
- methods : DNA Mutational Analysis.
- psychology : Olfaction Disorders, Parkinson Disease.
- Aged, Family Health, Female, France, Genetic Predisposition to Disease, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Neuropsychological Tests.
Abstract
We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD.
DOI: 10.1016/j.parkreldis.2008.06.008
PubMed: 18718805
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pubmed:18718805Le document en format XML
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last="Brice">Alexis Brice</name></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="eISSN">1873-5126</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>DNA Mutational Analysis (methods)</term><term>Family Health</term><term>Female</term><term>France</term><term>Genetic Predisposition to Disease</term><term>Glycine (genetics)</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Neuropsychological Tests</term><term>Olfaction Disorders (etiology)</term><term>Olfaction Disorders (genetics)</term><term>Olfaction Disorders (psychology)</term><term>Parkinson Disease (complications)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (psychology)</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="complications" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Olfaction Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Olfaction Disorders</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Olfaction Disorders</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Family Health</term><term>Female</term><term>France</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Neuropsychological Tests</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">18718805</PMID><DateCreated><Year>2009</Year><Month>04</Month><Day>20</Day></DateCreated><DateCompleted><Year>2009</Year><Month>08</Month><Day>10</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>25</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1873-5126</ISSN><JournalIssue CitedMedium="Internet"><Volume>15</Volume><Issue>4</Issue><PubDate><Year>2009</Year><Month>May</Month></PubDate></JournalIssue><Title>Parkinsonism & related disorders</Title><ISOAbbreviation>Parkinsonism Relat. 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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="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2008</Year><Month>08</Month><Day>21</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Parkinsonism Relat Disord</MedlineTA><NlmUniqueID>9513583</NlmUniqueID><ISSNLinking>1353-8020</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>452VLY9402</RegistryNumber><NameOfSubstance UI="D012694">Serine</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 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MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009483" MajorTopicYN="N">Neuropsychological Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000857" MajorTopicYN="Y">Olfaction Disorders</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000523" MajorTopicYN="N">psychology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="Y">Parkinson Disease</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000523" MajorTopicYN="N">psychology</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="N">genetics</QualifierName></MeshHeading></MeshHeadingList><InvestigatorList><Investigator ValidYN="Y"><LastName>Agid</LastName><ForeName>Y</ForeName><Initials>Y</Initials></Investigator><Investigator ValidYN="Y"><LastName>Bonnet</LastName><ForeName>A-M</ForeName><Initials>AM</Initials></Investigator><Investigator ValidYN="Y"><LastName>Borg</LastName><ForeName>M</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Brice</LastName><ForeName>A</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Broussolle</LastName><ForeName>E</ForeName><Initials>E</Initials></Investigator><Investigator ValidYN="Y"><LastName>Damier</LastName><ForeName>Ph</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Destée</LastName><ForeName>A</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Dürr</LastName><ForeName>A</ForeName><Initials>A</Initials></Investigator><Investigator ValidYN="Y"><LastName>Durif</LastName><ForeName>F</ForeName><Initials>F</Initials></Investigator><Investigator ValidYN="Y"><LastName>Lohmann</LastName><ForeName>E</ForeName><Initials>E</Initials></Investigator><Investigator ValidYN="Y"><LastName>Martinez</LastName><ForeName>M</ForeName><Initials>M</Initials></Investigator><Investigator ValidYN="Y"><LastName>Penet</LastName><ForeName>C</ForeName><Initials>C</Initials></Investigator><Investigator ValidYN="Y"><LastName>Pollak</LastName><ForeName>P</ForeName><Initials>P</Initials></Investigator><Investigator ValidYN="Y"><LastName>Rascol</LastName><ForeName>O</ForeName><Initials>O</Initials></Investigator><Investigator 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PubStatus="accepted"><Year>2008</Year><Month>06</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>8</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>8</Month><Day>11</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>8</Month><Day>23</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">18718805</ArticleId><ArticleId IdType="pii">S1353-8020(08)00209-5</ArticleId><ArticleId IdType="doi">10.1016/j.parkreldis.2008.06.008</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement><orgName><li>Hôpital de la Salpêtrière</li></orgName></list><tree><noCountry><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="De Anna, Francesca" sort="De Anna, Francesca" uniqKey="De Anna F" first="Francesca" last="De Anna">Francesca De Anna</name><name sortKey="Dubois, Bruno" sort="Dubois, Bruno" uniqKey="Dubois B" first="Bruno" last="Dubois">Bruno Dubois</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Leclere, Laurence" sort="Leclere, Laurence" uniqKey="Leclere L" first="Laurence" last="Leclere">Laurence Leclere</name><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></region><name sortKey="Agid, Yves" sort="Agid, Yves" uniqKey="Agid Y" first="Yves" 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