Huntington's disease phenocopies are clinically and genetically heterogeneous
Identifieur interne : 002806 ( Main/Exploration ); précédent : 002805; suivant : 002807Huntington's disease phenocopies are clinically and genetically heterogeneous
Auteurs : Edward J. Wild [Royaume-Uni] ; Ese E. Mudanohwo [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Susanne A. Schneider [Royaume-Uni] ; Jon Beck [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Martin N. Rossor [Royaume-Uni] ; Mary B. Davis [Royaume-Uni] ; Sarah J. Tabrizi [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-04-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Cohort Studies, Diagnosis, Differential, Familial disease, Female, Friedreich Ataxia (diagnosis), Friedreich Ataxia (genetics), HDL1, HDL2, Humans, Huntington Disease (diagnosis), Huntington disease, Huntington's disease (HD), Male, Membrane Proteins (genetics), Middle Aged, Movement Disorders (diagnosis), Movement Disorders (genetics), Mutagenesis, Insertional, Nervous system diseases, Phenotype, Prion Diseases (diagnosis), Prion Diseases (genetics), Prion disease, Prions (genetics), SCA17, Syndrome, TATA-Box Binding Protein (genetics), familial prion disease, phenocopies.
- MESH :
- chemical , genetics : Membrane Proteins, Prions, TATA-Box Binding Protein.
- diagnosis : Friedreich Ataxia, Huntington Disease, Movement Disorders, Prion Diseases.
- genetics : Friedreich Ataxia, Movement Disorders, Prion Diseases.
- Adult, Cohort Studies, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Mutagenesis, Insertional, Phenotype, Syndrome.
Abstract
Huntington's disease (HD) classically presents with movement disorder, cognitive dysfunction and behavioral problems but is phenotypically variable. One percent of patients with HD‐like symptoms lack the causative mutation and are considered HD phenocopies. Genetic diseases known to cause HD phenocopies include HD‐like syndromes HDL1, HDL2, and HDL4 (SCA17). HD has phenotypic overlap with dentatorubral‐pallidoluysian atrophy, the spinocerebellar ataxias and neuroferritinopathy. Identifying the genetic basis of HD phenocopies is important for diagnosis and may inform the search for HD genetic modifiers. We sought to identify neurogenetic diagnoses in the largest reported cohort of HD phenocopy patients. Two hundred eighty‐five patients with syndromes consistent with HD, who were HD expansion‐negative, were screened for mutations in PRNP, JPH3, TBP, DRPLA, SCA1, SCA2, SCA3, FTL and FRDA. Genetic diagnoses were made in 8 subjects: we identified 5 cases of HDL4, 1 of HDL1 and 1 of HDL2. One patient had Friedreich's ataxia. There were no cases of DRPLA, SCA1, SCA2, SCA3, or neuroferritinopathy. HD phenocopies are clinically and genetically diverse and a definitive genetic diagnosis is currently possible in only a minority of cases. When undertaken, it should be clinically directed and patients and clinicians should be prepared for the low probability of reaching a genetic diagnosis in this group of patients. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.21915
Affiliations:
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Wild</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mudanohwo, Ese E" sort="Mudanohwo, Ese E" uniqKey="Mudanohwo E" first="Ese E." last="Mudanohwo">Ese E. Mudanohwo</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Unit, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Unit, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Beck, Jon" sort="Beck, Jon" uniqKey="Beck J" first="Jon" last="Beck">Jon Beck</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Rossor, Martin N" sort="Rossor, Martin N" uniqKey="Rossor M" first="Martin N." last="Rossor">Martin N. Rossor</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Unit, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neurogenetics Unit, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J." last="Tabrizi">Sarah J. Tabrizi</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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="2008-04-15">2008-04-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="716">716</biblScope><biblScope unit="page" to="720">720</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">AC51746FC3CD61E65BB7D804D538A050B229898B</idno><idno type="DOI">10.1002/mds.21915</idno><idno type="ArticleID">MDS21915</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Cohort Studies</term><term>Diagnosis, Differential</term><term>Familial disease</term><term>Female</term><term>Friedreich Ataxia (diagnosis)</term><term>Friedreich Ataxia (genetics)</term><term>HDL1</term><term>HDL2</term><term>Humans</term><term>Huntington Disease (diagnosis)</term><term>Huntington disease</term><term>Huntington's disease (HD)</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Movement Disorders (diagnosis)</term><term>Movement Disorders (genetics)</term><term>Mutagenesis, Insertional</term><term>Nervous system diseases</term><term>Phenotype</term><term>Prion Diseases (diagnosis)</term><term>Prion Diseases (genetics)</term><term>Prion disease</term><term>Prions (genetics)</term><term>SCA17</term><term>Syndrome</term><term>TATA-Box Binding Protein (genetics)</term><term>familial prion disease</term><term>phenocopies</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term><term>Prions</term><term>TATA-Box Binding Protein</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Friedreich Ataxia</term><term>Huntington Disease</term><term>Movement Disorders</term><term>Prion Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Friedreich Ataxia</term><term>Movement Disorders</term><term>Prion Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Cohort Studies</term><term>Diagnosis, Differential</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutagenesis, Insertional</term><term>Phenotype</term><term>Syndrome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Chorée de Huntington</term><term>Maladie familiale</term><term>Maladie à prions</term><term>Pathologie du système nerveux</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington's disease (HD) classically presents with movement disorder, cognitive dysfunction and behavioral problems but is phenotypically variable. One percent of patients with HD‐like symptoms lack the causative mutation and are considered HD phenocopies. Genetic diseases known to cause HD phenocopies include HD‐like syndromes HDL1, HDL2, and HDL4 (SCA17). HD has phenotypic overlap with dentatorubral‐pallidoluysian atrophy, the spinocerebellar ataxias and neuroferritinopathy. Identifying the genetic basis of HD phenocopies is important for diagnosis and may inform the search for HD genetic modifiers. We sought to identify neurogenetic diagnoses in the largest reported cohort of HD phenocopy patients. Two hundred eighty‐five patients with syndromes consistent with HD, who were HD expansion‐negative, were screened for mutations in PRNP, JPH3, TBP, DRPLA, SCA1, SCA2, SCA3, FTL and FRDA. Genetic diagnoses were made in 8 subjects: we identified 5 cases of HDL4, 1 of HDL1 and 1 of HDL2. One patient had Friedreich's ataxia. There were no cases of DRPLA, SCA1, SCA2, SCA3, or neuroferritinopathy. HD phenocopies are clinically and genetically diverse and a definitive genetic diagnosis is currently possible in only a minority of cases. When undertaken, it should be clinically directed and patients and clinicians should be prepared for the low probability of reaching a genetic diagnosis in this group of patients. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Wild, Edward J" sort="Wild, Edward J" uniqKey="Wild E" first="Edward J." last="Wild">Edward J. Wild</name></region><name sortKey="Beck, Jon" sort="Beck, Jon" uniqKey="Beck J" first="Jon" last="Beck">Jon Beck</name><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name><name sortKey="Mudanohwo, Ese E" sort="Mudanohwo, Ese E" uniqKey="Mudanohwo E" first="Ese E." last="Mudanohwo">Ese E. Mudanohwo</name><name sortKey="Rossor, Martin N" sort="Rossor, Martin N" uniqKey="Rossor M" first="Martin N." last="Rossor">Martin N. Rossor</name><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G." last="Sweeney">Mary G. Sweeney</name><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J." last="Tabrizi">Sarah J. Tabrizi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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