Huntington's disease phenocopies are clinically and genetically heterogeneous.
Identifieur interne : 002256 ( PubMed/Checkpoint ); précédent : 002255; suivant : 002257Huntington's disease phenocopies are clinically and genetically heterogeneous.
Auteurs : Edward J. Wild [Royaume-Uni] ; Ese E. Mudanohwo ; Mary G. Sweeney ; Susanne A. Schneider ; Jon Beck ; Kailash P. Bhatia ; Martin N. Rossor ; Mary B. Davis ; Sarah J. TabriziSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adult, Cohort Studies, Diagnosis, Differential, Female, Friedreich Ataxia (diagnosis), Friedreich Ataxia (genetics), Humans, Huntington Disease (diagnosis), Male, Membrane Proteins (genetics), Middle Aged, Movement Disorders (diagnosis), Movement Disorders (genetics), Mutagenesis, Insertional, Phenotype, Prion Diseases (diagnosis), Prion Diseases (genetics), Prions (genetics), Syndrome, TATA-Box Binding Protein (genetics).
- 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.
DOI: 10.1002/mds.21915
PubMed: 18181206
Affiliations:
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Wild</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurodegenerative Disease, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.</nlm:affiliation><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></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name></author><author><name sortKey="Beck, Jon" sort="Beck, Jon" uniqKey="Beck J" first="Jon" last="Beck">Jon Beck</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Rossor, Martin N" sort="Rossor, Martin N" uniqKey="Rossor M" first="Martin N" last="Rossor">Martin N. Rossor</name></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name></author><author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.21915</idno><idno type="RBID">pubmed:18181206</idno><idno type="pmid">18181206</idno><idno type="wicri:Area/PubMed/Corpus">002338</idno><idno type="wicri:Area/PubMed/Curation">002338</idno><idno type="wicri:Area/PubMed/Checkpoint">002256</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Huntington's disease phenocopies are clinically and genetically heterogeneous.</title><author><name sortKey="Wild, Edward J" sort="Wild, Edward J" uniqKey="Wild E" first="Edward J" last="Wild">Edward J. Wild</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurodegenerative Disease, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.</nlm:affiliation><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></author><author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name></author><author><name sortKey="Beck, Jon" sort="Beck, Jon" uniqKey="Beck J" first="Jon" last="Beck">Jon Beck</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Rossor, Martin N" sort="Rossor, Martin N" uniqKey="Rossor M" first="Martin N" last="Rossor">Martin N. Rossor</name></author><author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name></author><author><name sortKey="Tabrizi, Sarah J" sort="Tabrizi, Sarah J" uniqKey="Tabrizi S" first="Sarah J" last="Tabrizi">Sarah J. Tabrizi</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="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Cohort Studies</term><term>Diagnosis, Differential</term><term>Female</term><term>Friedreich Ataxia (diagnosis)</term><term>Friedreich Ataxia (genetics)</term><term>Humans</term><term>Huntington Disease (diagnosis)</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>Phenotype</term><term>Prion Diseases (diagnosis)</term><term>Prion Diseases (genetics)</term><term>Prions (genetics)</term><term>Syndrome</term><term>TATA-Box Binding Protein (genetics)</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></textClass></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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18181206</PMID><DateCreated><Year>2008</Year><Month>05</Month><Day>01</Day></DateCreated><DateCompleted><Year>2008</Year><Month>05</Month><Day>30</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>5</Issue><PubDate><Year>2008</Year><Month>Apr</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Huntington's disease phenocopies are clinically and genetically heterogeneous.</ArticleTitle><Pagination><MedlinePgn>716-20</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.21915</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>2008 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wild</LastName><ForeName>Edward J</ForeName><Initials>EJ</Initials><AffiliationInfo><Affiliation>Department of Neurodegenerative Disease, UCL Institute of Neurology/National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mudanohwo</LastName><ForeName>Ese E</ForeName><Initials>EE</Initials></Author><Author ValidYN="Y"><LastName>Sweeney</LastName><ForeName>Mary G</ForeName><Initials>MG</Initials></Author><Author ValidYN="Y"><LastName>Schneider</LastName><ForeName>Susanne A</ForeName><Initials>SA</Initials></Author><Author ValidYN="Y"><LastName>Beck</LastName><ForeName>Jon</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash P</ForeName><Initials>KP</Initials></Author><Author ValidYN="Y"><LastName>Rossor</LastName><ForeName>Martin N</ForeName><Initials>MN</Initials></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>Mary B</ForeName><Initials>MB</Initials></Author><Author ValidYN="Y"><LastName>Tabrizi</LastName><ForeName>Sarah J</ForeName><Initials>SJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D008565">Membrane Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C512656">PRNP protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011328">Prions</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D035181">TATA-Box Binding Protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C509817">TBP protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C412507">junctophilin</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015331">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005621">Friedreich Ataxia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006816">Huntington Disease</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008565">Membrane Proteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009069">Movement Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016254">Mutagenesis, Insertional</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017096">Prion Diseases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011328">Prions</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013577">Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D035181">TATA-Box Binding Protein</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year><Month>1</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>5</Month><Day>31</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2008</Year><Month>1</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21915</ArticleId><ArticleId IdType="pubmed">18181206</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><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></noCountry><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. 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