Familial Parkinsonism with digenic parkin and PINK1 mutations.
Identifieur interne : 002296 ( PubMed/Checkpoint ); précédent : 002295; suivant : 002297Familial Parkinsonism with digenic parkin and PINK1 mutations.
Auteurs : Manabu Funayama [Japon] ; Yuanzhe Li ; Tak-Hong Tsoi ; Ching-Wan Lam ; Takekazu Ohi ; Shogo Yazawa ; Eiichiro Uyama ; Ruth Djaldetti ; Eldad Melamed ; Hiroyo Yoshino ; Yoko Imamichi ; Hiroshi Takashima ; Kenya Nishioka ; Kenichi Sato ; Hiroyuki Tomiyama ; Shin-Ichiro Kubo ; Yoshikuni Mizuno ; Nobutaka HattoriSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
Descripteurs français
- Wicri :
- geographic : Japon.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Aged, DNA Mutational Analysis, Ethnic Groups (genetics), Female, Genotype, Humans, Japan (epidemiology), Male, Middle Aged, Mutagenesis, Insertional, Mutation, Mutation, Missense, Parkinson Disease (complications), Parkinson Disease (ethnology), Parkinson Disease (genetics), Point Mutation, Protein Kinases (genetics), Schizophrenia (complications), Schizophrenia (ethnology), Schizophrenia (genetics), Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , genetics : Protein Kinases, Ubiquitin-Protein Ligases.
- geographic , epidemiology : Japan.
- complications : Parkinson Disease, Schizophrenia.
- ethnology : Parkinson Disease, Schizophrenia.
- genetics : Ethnic Groups, Parkinson Disease, Schizophrenia.
- Adolescent, Adult, Age of Onset, Aged, DNA Mutational Analysis, Female, Genotype, Humans, Male, Middle Aged, Mutagenesis, Insertional, Mutation, Mutation, Missense, Point Mutation.
Abstract
To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders.
DOI: 10.1002/mds.22143
PubMed: 18546294
Affiliations:
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Links to Exploration step
pubmed:18546294Le document en format XML
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xml:lang="fr">Japon</country><wicri:regionArea>Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Bunkyo-Ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name></author><author><name sortKey="Tsoi, Tak Hong" sort="Tsoi, Tak Hong" uniqKey="Tsoi T" first="Tak-Hong" last="Tsoi">Tak-Hong Tsoi</name></author><author><name sortKey="Lam, Ching Wan" sort="Lam, Ching Wan" uniqKey="Lam C" first="Ching-Wan" last="Lam">Ching-Wan Lam</name></author><author><name sortKey="Ohi, Takekazu" sort="Ohi, Takekazu" uniqKey="Ohi T" first="Takekazu" last="Ohi">Takekazu Ohi</name></author><author><name sortKey="Yazawa, Shogo" sort="Yazawa, Shogo" uniqKey="Yazawa S" first="Shogo" last="Yazawa">Shogo Yazawa</name></author><author><name sortKey="Uyama, Eiichiro" sort="Uyama, Eiichiro" uniqKey="Uyama E" first="Eiichiro" last="Uyama">Eiichiro Uyama</name></author><author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name></author><author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name></author><author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name></author><author><name sortKey="Takashima, Hiroshi" sort="Takashima, Hiroshi" uniqKey="Takashima H" first="Hiroshi" last="Takashima">Hiroshi Takashima</name></author><author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name></author><author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name></author><author><name sortKey="Kubo, Shin Ichiro" sort="Kubo, Shin Ichiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Ethnic Groups (genetics)</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Japan (epidemiology)</term><term>Male</term><term>Middle Aged</term><term>Mutagenesis, Insertional</term><term>Mutation</term><term>Mutation, Missense</term><term>Parkinson Disease (complications)</term><term>Parkinson Disease (ethnology)</term><term>Parkinson Disease (genetics)</term><term>Point Mutation</term><term>Protein Kinases (genetics)</term><term>Schizophrenia (complications)</term><term>Schizophrenia (ethnology)</term><term>Schizophrenia (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Japan</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinson Disease</term><term>Schizophrenia</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term><term>Schizophrenia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ethnic Groups</term><term>Parkinson Disease</term><term>Schizophrenia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutagenesis, Insertional</term><term>Mutation</term><term>Mutation, Missense</term><term>Point Mutation</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18546294</PMID><DateCreated><Year>2008</Year><Month>08</Month><Day>05</Day></DateCreated><DateCompleted><Year>2008</Year><Month>11</Month><Day>18</Day></DateCompleted><DateRevised><Year>2012</Year><Month>06</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>10</Issue><PubDate><Year>2008</Year><Month>Jul</Month><Day>30</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Familial Parkinsonism with digenic parkin and PINK1 mutations.</ArticleTitle><Pagination><MedlinePgn>1461-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22143</ELocationID><Abstract><AbstractText>To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders.</AbstractText><CopyrightInformation>Copyright 2008 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Funayama</LastName><ForeName>Manabu</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Bunkyo-Ku, Tokyo, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Li</LastName><ForeName>Yuanzhe</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Tsoi</LastName><ForeName>Tak-Hong</ForeName><Initials>TH</Initials></Author><Author ValidYN="Y"><LastName>Lam</LastName><ForeName>Ching-Wan</ForeName><Initials>CW</Initials></Author><Author ValidYN="Y"><LastName>Ohi</LastName><ForeName>Takekazu</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Yazawa</LastName><ForeName>Shogo</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Uyama</LastName><ForeName>Eiichiro</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Djaldetti</LastName><ForeName>Ruth</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Melamed</LastName><ForeName>Eldad</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Yoshino</LastName><ForeName>Hiroyo</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Imamichi</LastName><ForeName>Yoko</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Takashima</LastName><ForeName>Hiroshi</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Nishioka</LastName><ForeName>Kenya</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Sato</LastName><ForeName>Kenichi</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Tomiyama</LastName><ForeName>Hiroyuki</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Kubo</LastName><ForeName>Shin-Ichiro</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Mizuno</LastName><ForeName>Yoshikuni</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Hattori</LastName><ForeName>Nobutaka</ForeName><Initials>N</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>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>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber><NameOfSubstance UI="C111567">parkin protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005006">Ethnic Groups</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D007564">Japan</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016254">Mutagenesis, Insertional</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020125">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011494">Protein Kinases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012559">Schizophrenia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>6</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>11</Month><Day>19</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>6</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22143</ArticleId><ArticleId IdType="pubmed">18546294</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Japon</li></country><settlement><li>Tokyo</li></settlement></list><tree><noCountry><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name><name sortKey="Kubo, Shin Ichiro" sort="Kubo, Shin Ichiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name><name sortKey="Lam, Ching Wan" sort="Lam, Ching Wan" uniqKey="Lam C" first="Ching-Wan" last="Lam">Ching-Wan Lam</name><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name><name sortKey="Ohi, Takekazu" sort="Ohi, Takekazu" uniqKey="Ohi T" first="Takekazu" last="Ohi">Takekazu Ohi</name><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name><name sortKey="Takashima, Hiroshi" sort="Takashima, Hiroshi" uniqKey="Takashima H" first="Hiroshi" last="Takashima">Hiroshi Takashima</name><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><name sortKey="Tsoi, Tak Hong" sort="Tsoi, Tak Hong" uniqKey="Tsoi T" first="Tak-Hong" last="Tsoi">Tak-Hong Tsoi</name><name sortKey="Uyama, Eiichiro" sort="Uyama, Eiichiro" uniqKey="Uyama E" first="Eiichiro" last="Uyama">Eiichiro Uyama</name><name sortKey="Yazawa, Shogo" sort="Yazawa, Shogo" uniqKey="Yazawa S" first="Shogo" last="Yazawa">Shogo Yazawa</name><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name></noCountry><country name="Japon"><noRegion><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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