Ataxia without telangiectasia.
Identifieur interne : 004C42 ( PubMed/Corpus ); précédent : 004C41; suivant : 004C43Ataxia without telangiectasia.
Auteurs : J H Friedman ; A. WeitbergSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1993.
English descriptors
- KwdEn :
- MESH :
- classification : Ataxia Telangiectasia.
- diagnosis : Ataxia Telangiectasia.
- genetics : Ataxia Telangiectasia.
- Adolescent, Diagnosis, Differential, Humans, Male, Neurologic Examination, Phenotype, Terminology as Topic.
Abstract
Ataxia telangiectasia (AT) is an autosomal recessive hereditary disorder characterized by onset in infancy or childhood of a cerebellar and later extrapyramidal disorder associated with telangiectasias and an immune deficit. Only a handful of cases have been described in which the features were not stereotypic. This report describes a case that is classic except for the absence of telangiectasias through age 17. This and other cases suggest that a new, more inclusive term be used to describe the syndrome of ataxia with immune deficit until the genetic abnormalities in these disorders become identifiable.
DOI: 10.1002/mds.870080222
PubMed: 8474496
Links to Exploration step
pubmed:8474496Le document en format XML
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<author><name sortKey="Friedman, J H" sort="Friedman, J H" uniqKey="Friedman J" first="J H" last="Friedman">J H Friedman</name>
<affiliation><nlm:affiliation>Department of Neurology, Roger Williams Medical Center, Providence, Rhode Island 02908.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Weitberg, A" sort="Weitberg, A" uniqKey="Weitberg A" first="A" last="Weitberg">A. Weitberg</name>
</author>
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<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="1993">1993</date>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Ataxia without telangiectasia.</title>
<author><name sortKey="Friedman, J H" sort="Friedman, J H" uniqKey="Friedman J" first="J H" last="Friedman">J H Friedman</name>
<affiliation><nlm:affiliation>Department of Neurology, Roger Williams Medical Center, Providence, Rhode Island 02908.</nlm:affiliation>
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<author><name sortKey="Weitberg, A" sort="Weitberg, A" uniqKey="Weitberg A" first="A" last="Weitberg">A. Weitberg</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="1993" type="published">1993</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Ataxia Telangiectasia (classification)</term>
<term>Ataxia Telangiectasia (diagnosis)</term>
<term>Ataxia Telangiectasia (genetics)</term>
<term>Diagnosis, Differential</term>
<term>Humans</term>
<term>Male</term>
<term>Neurologic Examination</term>
<term>Phenotype</term>
<term>Terminology as Topic</term>
</keywords>
<keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Ataxia Telangiectasia</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>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Diagnosis, Differential</term>
<term>Humans</term>
<term>Male</term>
<term>Neurologic Examination</term>
<term>Phenotype</term>
<term>Terminology as Topic</term>
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<front><div type="abstract" xml:lang="en">Ataxia telangiectasia (AT) is an autosomal recessive hereditary disorder characterized by onset in infancy or childhood of a cerebellar and later extrapyramidal disorder associated with telangiectasias and an immune deficit. Only a handful of cases have been described in which the features were not stereotypic. This report describes a case that is classic except for the absence of telangiectasias through age 17. This and other cases suggest that a new, more inclusive term be used to describe the syndrome of ataxia with immune deficit until the genetic abnormalities in these disorders become identifiable.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">8474496</PMID>
<DateCreated><Year>1993</Year>
<Month>05</Month>
<Day>18</Day>
</DateCreated>
<DateCompleted><Year>1993</Year>
<Month>05</Month>
<Day>18</Day>
</DateCompleted>
<DateRevised><Year>2007</Year>
<Month>11</Month>
<Day>15</Day>
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<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>8</Volume>
<Issue>2</Issue>
<PubDate><Year>1993</Year>
<Month>Apr</Month>
</PubDate>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Ataxia without telangiectasia.</ArticleTitle>
<Pagination><MedlinePgn>223-6</MedlinePgn>
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<Abstract><AbstractText>Ataxia telangiectasia (AT) is an autosomal recessive hereditary disorder characterized by onset in infancy or childhood of a cerebellar and later extrapyramidal disorder associated with telangiectasias and an immune deficit. Only a handful of cases have been described in which the features were not stereotypic. This report describes a case that is classic except for the absence of telangiectasias through age 17. This and other cases suggest that a new, more inclusive term be used to describe the syndrome of ataxia with immune deficit until the genetic abnormalities in these disorders become identifiable.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Friedman</LastName>
<ForeName>J H</ForeName>
<Initials>JH</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Roger Williams Medical Center, Providence, Rhode Island 02908.</Affiliation>
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<Author ValidYN="Y"><LastName>Weitberg</LastName>
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<Language>eng</Language>
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<MedlineJournalInfo><Country>UNITED STATES</Country>
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<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009626">Terminology as Topic</DescriptorName>
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<Month>4</Month>
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