Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
Identifieur interne : 000B71 ( PubMed/Curation ); précédent : 000B70; suivant : 000B72Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
Auteurs : Paul F. Worth [Royaume-Uni] ; Venkataramanan Srinivasan ; Anna Smith ; James I. Last ; Laura L. Wootton ; Paul M. Biggs ; Nicholas P. Davies ; Ellen F. Carney ; Philip J. Byrd ; A Malcolm R. TaylorSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , metabolism : Ataxia Telangiectasia Mutated Proteins.
- diagnosis : Ataxia Telangiectasia.
- genetics : Ataxia Telangiectasia, Mutation.
- metabolism : Ataxia Telangiectasia.
- Adult, Cell Line, Female, Genotype, Humans, Phenotype, Radiation Tolerance.
Abstract
The major clinical feature of ataxia telangiectasia (A-T) is severe progressive neurodegeneration with onset in infancy. This classical A-T phenotype is caused by biallelic null mutations in the ATM gene, leading to the absence of ATM protein and increased cellular radiosensitivity. We report an unusual case of A-T in a 41-year-old mother, A-T210, who had very mild neurological symptoms despite complete loss of ATM protein.
DOI: 10.1002/mds.25236
PubMed: 23143971
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000B71
Links to Exploration step
pubmed:23143971Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.</title><author><name sortKey="Worth, Paul F" sort="Worth, Paul F" uniqKey="Worth P" first="Paul F" last="Worth">Paul F. Worth</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Norfolk and Norwich University Hospital, Norwich, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Norfolk and Norwich University Hospital, Norwich</wicri:regionArea></affiliation></author><author><name sortKey="Srinivasan, Venkataramanan" sort="Srinivasan, Venkataramanan" uniqKey="Srinivasan V" first="Venkataramanan" last="Srinivasan">Venkataramanan Srinivasan</name></author><author><name sortKey="Smith, Anna" sort="Smith, Anna" uniqKey="Smith A" first="Anna" last="Smith">Anna Smith</name></author><author><name sortKey="Last, James I" sort="Last, James I" uniqKey="Last J" first="James I" last="Last">James I. Last</name></author><author><name sortKey="Wootton, Laura L" sort="Wootton, Laura L" uniqKey="Wootton L" first="Laura L" last="Wootton">Laura L. Wootton</name></author><author><name sortKey="Biggs, Paul M" sort="Biggs, Paul M" uniqKey="Biggs P" first="Paul M" last="Biggs">Paul M. Biggs</name></author><author><name sortKey="Davies, Nicholas P" sort="Davies, Nicholas P" uniqKey="Davies N" first="Nicholas P" last="Davies">Nicholas P. Davies</name></author><author><name sortKey="Carney, Ellen F" sort="Carney, Ellen F" uniqKey="Carney E" first="Ellen F" last="Carney">Ellen F. Carney</name></author><author><name sortKey="Byrd, Philip J" sort="Byrd, Philip J" uniqKey="Byrd P" first="Philip J" last="Byrd">Philip J. Byrd</name></author><author><name sortKey="Taylor, A Malcolm R" sort="Taylor, A Malcolm R" uniqKey="Taylor A" first="A Malcolm R" last="Taylor">A Malcolm R. Taylor</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1002/mds.25236</idno><idno type="RBID">pubmed:23143971</idno><idno type="pmid">23143971</idno><idno type="wicri:Area/PubMed/Corpus">000B71</idno><idno type="wicri:Area/PubMed/Curation">000B71</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.</title><author><name sortKey="Worth, Paul F" sort="Worth, Paul F" uniqKey="Worth P" first="Paul F" last="Worth">Paul F. Worth</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Norfolk and Norwich University Hospital, Norwich, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Norfolk and Norwich University Hospital, Norwich</wicri:regionArea></affiliation></author><author><name sortKey="Srinivasan, Venkataramanan" sort="Srinivasan, Venkataramanan" uniqKey="Srinivasan V" first="Venkataramanan" last="Srinivasan">Venkataramanan Srinivasan</name></author><author><name sortKey="Smith, Anna" sort="Smith, Anna" uniqKey="Smith A" first="Anna" last="Smith">Anna Smith</name></author><author><name sortKey="Last, James I" sort="Last, James I" uniqKey="Last J" first="James I" last="Last">James I. Last</name></author><author><name sortKey="Wootton, Laura L" sort="Wootton, Laura L" uniqKey="Wootton L" first="Laura L" last="Wootton">Laura L. Wootton</name></author><author><name sortKey="Biggs, Paul M" sort="Biggs, Paul M" uniqKey="Biggs P" first="Paul M" last="Biggs">Paul M. Biggs</name></author><author><name sortKey="Davies, Nicholas P" sort="Davies, Nicholas P" uniqKey="Davies N" first="Nicholas P" last="Davies">Nicholas P. Davies</name></author><author><name sortKey="Carney, Ellen F" sort="Carney, Ellen F" uniqKey="Carney E" first="Ellen F" last="Carney">Ellen F. Carney</name></author><author><name sortKey="Byrd, Philip J" sort="Byrd, Philip J" uniqKey="Byrd P" first="Philip J" last="Byrd">Philip J. Byrd</name></author><author><name sortKey="Taylor, A Malcolm R" sort="Taylor, A Malcolm R" uniqKey="Taylor A" first="A Malcolm R" last="Taylor">A Malcolm R. Taylor</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="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Ataxia Telangiectasia (diagnosis)</term><term>Ataxia Telangiectasia (genetics)</term><term>Ataxia Telangiectasia (metabolism)</term><term>Ataxia Telangiectasia Mutated Proteins (metabolism)</term><term>Cell Line</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Mutation (genetics)</term><term>Phenotype</term><term>Radiation Tolerance</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Ataxia Telangiectasia Mutated Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Ataxia Telangiectasia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ataxia Telangiectasia</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Ataxia Telangiectasia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Cell Line</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Phenotype</term><term>Radiation Tolerance</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The major clinical feature of ataxia telangiectasia (A-T) is severe progressive neurodegeneration with onset in infancy. This classical A-T phenotype is caused by biallelic null mutations in the ATM gene, leading to the absence of ATM protein and increased cellular radiosensitivity. We report an unusual case of A-T in a 41-year-old mother, A-T210, who had very mild neurological symptoms despite complete loss of ATM protein.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23143971</PMID><DateCreated><Year>2013</Year><Month>04</Month><Day>09</Day></DateCreated><DateCompleted><Year>2013</Year><Month>11</Month><Day>27</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>28</Volume><Issue>4</Issue><PubDate><Year>2013</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.</ArticleTitle><Pagination><MedlinePgn>524-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25236</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">The major clinical feature of ataxia telangiectasia (A-T) is severe progressive neurodegeneration with onset in infancy. This classical A-T phenotype is caused by biallelic null mutations in the ATM gene, leading to the absence of ATM protein and increased cellular radiosensitivity. We report an unusual case of A-T in a 41-year-old mother, A-T210, who had very mild neurological symptoms despite complete loss of ATM protein.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">A neurological examination was performed, cellular radiosensitivity was assessed, and the ATM gene was sequenced. Skin fibroblasts and a lymphoblastoid cell line (LCL) were assayed for ATM protein expression and kinase activity.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Patient A-T210 showed mild chorea, dystonia, and gait ataxia, walked independently, and drove a car. LCL and skin fibroblasts were radiosensitive and did not express ATM protein. Two ATM-null mutations were identified.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">The severe neurodegeneration resulting from loss of ATM can be mitigated in some circumstances.</AbstractText><CopyrightInformation>Copyright © 2012 Movement Disorders Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Worth</LastName><ForeName>Paul F</ForeName><Initials>PF</Initials><AffiliationInfo><Affiliation>Department of Neurology, Norfolk and Norwich University Hospital, Norwich, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Srinivasan</LastName><ForeName>Venkataramanan</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Smith</LastName><ForeName>Anna</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Last</LastName><ForeName>James I</ForeName><Initials>JI</Initials></Author><Author ValidYN="Y"><LastName>Wootton</LastName><ForeName>Laura L</ForeName><Initials>LL</Initials></Author><Author ValidYN="Y"><LastName>Biggs</LastName><ForeName>Paul M</ForeName><Initials>PM</Initials></Author><Author ValidYN="Y"><LastName>Davies</LastName><ForeName>Nicholas P</ForeName><Initials>NP</Initials></Author><Author ValidYN="Y"><LastName>Carney</LastName><ForeName>Ellen F</ForeName><Initials>EF</Initials></Author><Author ValidYN="Y"><LastName>Byrd</LastName><ForeName>Philip J</ForeName><Initials>PJ</Initials></Author><Author ValidYN="Y"><LastName>Taylor</LastName><ForeName>A Malcolm R</ForeName><Initials>AM</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>C1016/A7395</GrantID><Agency>Cancer Research UK</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2012</Year><Month>11</Month><Day>09</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="D064007">Ataxia Telangiectasia Mutated Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001260">Ataxia Telangiectasia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D064007">Ataxia Telangiectasia Mutated Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002460">Cell Line</DescriptorName></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" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011836">Radiation Tolerance</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year><Month>2</Month><Day>8</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2012</Year><Month>8</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2012</Year><Month>9</Month><Day>9</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2012</Year><Month>11</Month><Day>9</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2012</Year><Month>11</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2012</Year><Month>11</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2013</Year><Month>12</Month><Day>16</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.25236</ArticleId><ArticleId IdType="pubmed">23143971</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000B71 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 000B71 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PubMed
|étape= Curation
|type= RBID
|clé= pubmed:23143971
|texte= Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i -Sk "pubmed:23143971" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |