Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.
Identifieur interne : 000E44 ( PubMed/Corpus ); précédent : 000E43; suivant : 000E45Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.
Auteurs : Anne-Louise Leutenegger ; Mustafa A M. Salih ; Pablo Ibá Ez ; Maowia M. Mukhtar ; Suzanne Lesage ; Ali Arabi ; Ebba Lohmann ; Alexandra Dürr ; Ammar E M. Ahmed ; Alexis BriceSource :
- Archives of neurology [ 0003-9942 ] ; 2006.
English descriptors
- KwdEn :
- Adenosine Triphosphate (metabolism), Adolescent, Adult, Age of Onset, Alanine (genetics), Amino Acid Sequence, Aspartic Acid (genetics), DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Parkinsonian Disorders (genetics), Protein Kinases (genetics), Sudan.
- MESH :
- chemical , genetics : Alanine, Aspartic Acid, Protein Kinases.
- chemical , metabolism : Adenosine Triphosphate.
- geographic : Sudan.
- genetics : Parkinsonian Disorders.
- Adolescent, Adult, Age of Onset, Amino Acid Sequence, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation.
Abstract
Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at 1p36 have been involved in autosomal recessive early-onset parkinsonism.
DOI: 10.1001/archneur.63.9.1257
PubMed: 16966503
Links to Exploration step
pubmed:16966503Le document en format XML
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Salih</name></author><author><name sortKey="Iba Ez, Pablo" sort="Iba Ez, Pablo" uniqKey="Iba Ez P" first="Pablo" last="Ibá Ez">Pablo Ibá Ez</name></author><author><name sortKey="Mukhtar, Maowia M" sort="Mukhtar, Maowia M" uniqKey="Mukhtar M" first="Maowia M" last="Mukhtar">Maowia M. Mukhtar</name></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></author><author><name sortKey="Arabi, Ali" sort="Arabi, Ali" uniqKey="Arabi A" first="Ali" last="Arabi">Ali Arabi</name></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Ahmed, Ammar E M" sort="Ahmed, Ammar E M" uniqKey="Ahmed A" first="Ammar E M" last="Ahmed">Ammar E M. Ahmed</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="RBID">pubmed:16966503</idno><idno type="pmid">16966503</idno><idno type="doi">10.1001/archneur.63.9.1257</idno><idno type="wicri:Area/PubMed/Corpus">000E44</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000E44</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.</title><author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name><affiliation><nlm:affiliation>Institut National de la Santé et de la Recherche Médicale U679, Assistance Publique, Hôpitaux de Paris, Faculté de Médecine, Université Paris 6-Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, 47 Blvd. de l'Hôpital, 75651 Paris CEDEX 13, France.</nlm:affiliation></affiliation></author><author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A M" last="Salih">Mustafa A M. Salih</name></author><author><name sortKey="Iba Ez, Pablo" sort="Iba Ez, Pablo" uniqKey="Iba Ez P" first="Pablo" last="Ibá Ez">Pablo Ibá Ez</name></author><author><name sortKey="Mukhtar, Maowia M" sort="Mukhtar, Maowia M" uniqKey="Mukhtar M" first="Maowia M" last="Mukhtar">Maowia M. Mukhtar</name></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name></author><author><name sortKey="Arabi, Ali" sort="Arabi, Ali" uniqKey="Arabi A" first="Ali" last="Arabi">Ali Arabi</name></author><author><name sortKey="Lohmann, Ebba" sort="Lohmann, Ebba" uniqKey="Lohmann E" first="Ebba" last="Lohmann">Ebba Lohmann</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Ahmed, Ammar E M" sort="Ahmed, Ammar E M" uniqKey="Ahmed A" first="Ammar E M" last="Ahmed">Ammar E M. Ahmed</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">Archives of neurology</title><idno type="ISSN">0003-9942</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenosine Triphosphate (metabolism)</term><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Alanine (genetics)</term><term>Amino Acid Sequence</term><term>Aspartic Acid (genetics)</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Parkinsonian Disorders (genetics)</term><term>Protein Kinases (genetics)</term><term>Sudan</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Alanine</term><term>Aspartic Acid</term><term>Protein Kinases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Adenosine Triphosphate</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Sudan</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Amino Acid Sequence</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at 1p36 have been involved in autosomal recessive early-onset parkinsonism.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">16966503</PMID><DateCreated><Year>2006</Year><Month>09</Month><Day>12</Day></DateCreated><DateCompleted><Year>2006</Year><Month>10</Month><Day>18</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0003-9942</ISSN><JournalIssue CitedMedium="Print"><Volume>63</Volume><Issue>9</Issue><PubDate><Year>2006</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Archives of neurology</Title><ISOAbbreviation>Arch. Neurol.</ISOAbbreviation></Journal><ArticleTitle>Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.</ArticleTitle><Pagination><MedlinePgn>1257-61</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at 1p36 have been involved in autosomal recessive early-onset parkinsonism.</AbstractText><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene.</AbstractText><AbstractText Label="DESIGN" NlmCategory="METHODS">Clinical and genetic study.</AbstractText><AbstractText Label="SETTING" NlmCategory="METHODS">Collaborative study. Patients Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism.</AbstractText><AbstractText Label="MAIN OUTCOME MEASURES" NlmCategory="METHODS">The PINK1 genotype and Parkinson disease status of all available family members.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Leutenegger</LastName><ForeName>Anne-Louise</ForeName><Initials>AL</Initials><AffiliationInfo><Affiliation>Institut National de la Santé et de la Recherche Médicale U679, Assistance Publique, Hôpitaux de Paris, Faculté de Médecine, Université Paris 6-Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, 47 Blvd. de l'Hôpital, 75651 Paris CEDEX 13, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Salih</LastName><ForeName>Mustafa A M</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Ibáñez</LastName><ForeName>Pablo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Mukhtar</LastName><ForeName>Maowia M</ForeName><Initials>MM</Initials></Author><Author ValidYN="Y"><LastName>Lesage</LastName><ForeName>Suzanne</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Arabi</LastName><ForeName>Ali</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Lohmann</LastName><ForeName>Ebba</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Ahmed</LastName><ForeName>Ammar E M</ForeName><Initials>AE</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>NS 41723-01A1</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Arch Neurol</MedlineTA><NlmUniqueID>0372436</NlmUniqueID><ISSNLinking>0003-9942</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>30KYC7MIAI</RegistryNumber><NameOfSubstance UI="D001224">Aspartic Acid</NameOfSubstance></Chemical><Chemical><RegistryNumber>8L70Q75FXE</RegistryNumber><NameOfSubstance UI="D000255">Adenosine Triphosphate</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.-</RegistryNumber><NameOfSubstance UI="D011494">Protein Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C433927">PTEN-induced putative kinase</NameOfSubstance></Chemical><Chemical><RegistryNumber>OF5P57N2ZX</RegistryNumber><NameOfSubstance UI="D000409">Alanine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000255" MajorTopicYN="N">Adenosine Triphosphate</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000409" MajorTopicYN="N">Alanine</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000595" MajorTopicYN="N">Amino Acid Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001224" MajorTopicYN="N">Aspartic Acid</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005192" MajorTopicYN="Y">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="Y">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020734" MajorTopicYN="N">Parkinsonian Disorders</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011494" MajorTopicYN="N">Protein Kinases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013397" MajorTopicYN="N" Type="Geographic">Sudan</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>9</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>10</Month><Day>19</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>9</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">16966503</ArticleId><ArticleId IdType="pii">63/9/1257</ArticleId><ArticleId IdType="doi">10.1001/archneur.63.9.1257</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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