MovDisordV3, PubMed, Corpus, bibRecord, 000C36

Huntington's disease: how intermediate are intermediate repeat lengths?

Identifieur interne : 000C36 ( PubMed/Corpus ); précédent : 000C35; suivant : 000C37

Huntington's disease: how intermediate are intermediate repeat lengths?

Auteurs : Ferdinando Squitieri ; Joseph Jankovic

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.

RBID : pubmed:23008174

English descriptors

KwdEn :
- Alleles, Humans, Huntington Disease (genetics), Mutation, Nerve Tissue Proteins (genetics), Phenotype, Trinucleotide Repeat Expansion (genetics).
MESH :
- chemical , genetics : Nerve Tissue Proteins.
- genetics : Huntington Disease, Trinucleotide Repeat Expansion.
- Alleles, Humans, Mutation, Phenotype.

Abstract

Huntington's disease (HD) is a devastating heredoneurodegenerative disorder associated with a wide variety of neurological and psychiatric symptoms caused by an expanded CAG repeat in the HTT gene. The expansion mutation in HTT is dominantly transmitted and codes for a protein named huntingtin (htt).

DOI: 10.1002/mds.25172
PubMed: 23008174

Links to Exploration step

pubmed:23008174

Le document en format XML

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<author><name sortKey="Squitieri, Ferdinando" sort="Squitieri, Ferdinando" uniqKey="Squitieri F" first="Ferdinando" last="Squitieri">Ferdinando Squitieri</name>
<affiliation><nlm:affiliation>Neurogenetics and Rare Diseases Centre, IRCCS Neuromed, Pozzilli, Italy. squitieri@neuromed.it</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Huntington's disease: how intermediate are intermediate repeat lengths?</title>
<author><name sortKey="Squitieri, Ferdinando" sort="Squitieri, Ferdinando" uniqKey="Squitieri F" first="Ferdinando" last="Squitieri">Ferdinando Squitieri</name>
<affiliation><nlm:affiliation>Neurogenetics and Rare Diseases Centre, IRCCS Neuromed, Pozzilli, Italy. squitieri@neuromed.it</nlm:affiliation>
</affiliation>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2012" type="published">2012</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term>
<term>Humans</term>
<term>Huntington Disease (genetics)</term>
<term>Mutation</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Phenotype</term>
<term>Trinucleotide Repeat Expansion (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term>
<term>Trinucleotide Repeat Expansion</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Humans</term>
<term>Mutation</term>
<term>Phenotype</term>
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<front><div type="abstract" xml:lang="en">Huntington's disease (HD) is a devastating heredoneurodegenerative disorder associated with a wide variety of neurological and psychiatric symptoms caused by an expanded CAG repeat in the HTT gene. The expansion mutation in HTT is dominantly transmitted and codes for a protein named huntingtin (htt).</div>
</front>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23008174</PMID>
<DateCreated><Year>2013</Year>
<Month>01</Month>
<Day>03</Day>
</DateCreated>
<DateCompleted><Year>2013</Year>
<Month>08</Month>
<Day>07</Day>
</DateCompleted>
<DateRevised><Year>2014</Year>
<Month>03</Month>
<Day>19</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>27</Volume>
<Issue>14</Issue>
<PubDate><Year>2012</Year>
<Month>Dec</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Huntington's disease: how intermediate are intermediate repeat lengths?</ArticleTitle>
<Pagination><MedlinePgn>1714-7</MedlinePgn>
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<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25172</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Huntington's disease (HD) is a devastating heredoneurodegenerative disorder associated with a wide variety of neurological and psychiatric symptoms caused by an expanded CAG repeat in the HTT gene. The expansion mutation in HTT is dominantly transmitted and codes for a protein named huntingtin (htt).</AbstractText>
<AbstractText Label="HYPOTHESIS" NlmCategory="OBJECTIVE">One hypothesis, according to a multistep mechanism, is that the intergenerational transmission of the normal repeat size causes small, progressive CAG stretch elongations in the general population from one generation to another, until a critical pathological CAG repeat threshold is reached. Mutations may originate in the offspring from paternally transmitted CAG repeats, falling within an intermediate alleles (IA) range of 27 to 35 in repeat length.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">There has been emerging evidence that some individuals with IAs might develop an HD phenotype. This presents a challenge for genetic counseling, because these individuals are often reassured that they are "disease free." However, there are many unanswered questions related to the role of IAs in the development of the HD phenotype and in the pathogenesis of HD.</AbstractText>
<CopyrightInformation>Copyright © 2012 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Squitieri</LastName>
<ForeName>Ferdinando</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Neurogenetics and Rare Diseases Centre, IRCCS Neuromed, Pozzilli, Italy. squitieri@neuromed.it</Affiliation>
</AffiliationInfo>
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<Author ValidYN="Y"><LastName>Jankovic</LastName>
<ForeName>Joseph</ForeName>
<Initials>J</Initials>
</Author>
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<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>GGP12218</GrantID>
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<Country>Italy</Country>
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<ArticleDate DateType="Electronic"><Year>2012</Year>
<Month>09</Month>
<Day>24</Day>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
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</Chemical>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006816">Huntington Disease</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009419">Nerve Tissue Proteins</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D019680">Trinucleotide Repeat Expansion</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
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<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year>
<Month>9</Month>
<Day>26</Day>
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<PubMedPubDate PubStatus="revised"><Year>2012</Year>
<Month>7</Month>
<Day>31</Day>
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<PubMedPubDate PubStatus="accepted"><Year>2012</Year>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Huntington's disease: how intermediate are intermediate repeat lengths?

Huntington's disease: how intermediate are intermediate repeat lengths?

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki