Autopsy‐proven Huntington's disease with 29 trinucleotide repeats
Identifieur interne : 002F98 ( Main/Exploration ); précédent : 002F97; suivant : 002F99Autopsy‐proven Huntington's disease with 29 trinucleotide repeats
Auteurs : Christopher Kenney [États-Unis] ; Suzanne Powell [États-Unis] ; Joseph Jankovic [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Autopsy, Autopsy (methods), Chorea, Humans, Huntington Disease (genetics), Huntington Disease (pathology), Huntington disease, Huntington's disease, Male, Middle Aged, Nerve Tissue Proteins (genetics), Nervous system diseases, Nuclear Proteins (genetics), Trinucleotide, Trinucleotide Repeat Expansion (genetics), autopsy, chorea, neuropathology, phenocopy, trinucleotide repeat.
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins.
- genetics : Huntington Disease, Trinucleotide Repeat Expansion.
- methods : Autopsy.
- pathology : Huntington Disease.
- Humans, Male, Middle Aged.
Abstract
Huntington's disease (HD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of HD; 30 to 35 repeats represent an intermediate range. Here we report a 65‐year‐old male with autopsy‐proven HD and 29 CAG repeats. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21195
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-01">2007-01</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="127">127</biblScope><biblScope unit="page" to="130">130</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">E322F2671AF71036D4FFC7AB8C80CEFB011D9D24</idno><idno type="DOI">10.1002/mds.21195</idno><idno type="ArticleID">MDS21195</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autopsy</term><term>Autopsy (methods)</term><term>Chorea</term><term>Humans</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (pathology)</term><term>Huntington disease</term><term>Huntington's disease</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Nuclear Proteins (genetics)</term><term>Trinucleotide</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>autopsy</term><term>chorea</term><term>neuropathology</term><term>phenocopy</term><term>trinucleotide repeat</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Autopsy</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Autopsie</term><term>Chorée Huntington</term><term>Chorée syndrome</term><term>Système nerveux pathologie</term><term>Trinucléotide</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington's disease (HD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of HD; 30 to 35 repeats represent an intermediate range. Here we report a 65‐year‐old male with autopsy‐proven HD and 29 CAG repeats. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Texas</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><tree><country name="États-Unis"><region name="Texas"><name sortKey="Kenney, Christopher" sort="Kenney, Christopher" uniqKey="Kenney C" first="Christopher" last="Kenney">Christopher Kenney</name></region><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><name sortKey="Powell, Suzanne" sort="Powell, Suzanne" uniqKey="Powell S" first="Suzanne" last="Powell">Suzanne Powell</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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