H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Identifieur interne : 000301 ( PubMed/Corpus ); précédent : 000300; suivant : 000302H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Auteurs : Roberto Erro ; Joshua Hersheson ; Christos Ganos ; Niccol E. Mencacci ; Maria Stamelou ; Amit Batla ; Stefanie Catherine Thust ; Jose M. Bras ; Rita J. Guerreiro ; John Hardy ; Niall P. Quinn ; Henry Houlden ; Kailash P. BhatiaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
Abstract
Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome, a rare neurodegenerative disorder of infancy and childhood. TUBB4A mutations also have been described as causative of DYT4 ("hereditary whispering dysphonia"). However, in DYT4, brain imaging has been reported to be normal and, therefore, H-ABC syndrome and DYT4 have been construed to be different disorders, despite some phenotypic overlap. Hence, the question of whether these disorders reflect variable expressivity or pleiotropy of TUBB4A mutations has been raised. We report four unrelated patients with imaging findings either partially or totally consistent with H-ABC syndrome, who were found to have TUBB4A mutations. All four subjects had a relatively homogenous phenotype characterized by severe generalized dystonia with superimposed pyramidal and cerebellar signs, and also bulbar involvement leading to complete aphonia and swallowing difficulties, even though one of the cases had an intermediate phenotype between H-ABC syndrome and DYT4. Genetic analysis of the TUBB4A gene showed one previously described and two novel mutations (c.941C>T; p.Ala314Val and c.900G>T; p.Met300Ile) in the exon 4 of the gene. While expanding the genetic spectrum of H-ABC syndrome, we confirm its radiological heterogeneity and demonstrate that phenotypic overlap with DYT4. Moreover, reappraisal of previously reported cases would also argue against pleiotropy of TUBB4A mutations. We therefore suggest that H-ABC and DYT4 belong to a continuous phenotypic spectrum associated with TUBB4A mutations.
DOI: 10.1002/mds.26129
PubMed: 25545912
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Bhatia</name><affiliation><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:25545912</idno><idno type="pmid">25545912</idno><idno type="doi">10.1002/mds.26129</idno><idno type="wicri:Area/PubMed/Corpus">000301</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?</title><author><name sortKey="Erro, Roberto" sort="Erro, Roberto" uniqKey="Erro R" first="Roberto" last="Erro">Roberto Erro</name><affiliation><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Hersheson, Joshua" sort="Hersheson, Joshua" uniqKey="Hersheson J" first="Joshua" last="Hersheson">Joshua Hersheson</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Ganos, Christos" sort="Ganos, Christos" uniqKey="Ganos C" first="Christos" last="Ganos">Christos Ganos</name><affiliation><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Mencacci, Niccol E" sort="Mencacci, Niccol E" uniqKey="Mencacci N" first="Niccol E" last="Mencacci">Niccol E. Mencacci</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name><affiliation><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Batla, Amit" sort="Batla, Amit" uniqKey="Batla A" first="Amit" last="Batla">Amit Batla</name><affiliation><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Thust, Stefanie Catherine" sort="Thust, Stefanie Catherine" uniqKey="Thust S" first="Stefanie Catherine" last="Thust">Stefanie Catherine Thust</name><affiliation><nlm:affiliation>The Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Bras, Jose M" sort="Bras, Jose M" uniqKey="Bras J" first="Jose M" last="Bras">Jose M. Bras</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Guerreiro, Rita J" sort="Guerreiro, Rita J" uniqKey="Guerreiro R" first="Rita J" last="Guerreiro">Rita J. Guerreiro</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name><affiliation><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</nlm:affiliation></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><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</nlm:affiliation></affiliation></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="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome, a rare neurodegenerative disorder of infancy and childhood. TUBB4A mutations also have been described as causative of DYT4 ("hereditary whispering dysphonia"). However, in DYT4, brain imaging has been reported to be normal and, therefore, H-ABC syndrome and DYT4 have been construed to be different disorders, despite some phenotypic overlap. Hence, the question of whether these disorders reflect variable expressivity or pleiotropy of TUBB4A mutations has been raised. We report four unrelated patients with imaging findings either partially or totally consistent with H-ABC syndrome, who were found to have TUBB4A mutations. All four subjects had a relatively homogenous phenotype characterized by severe generalized dystonia with superimposed pyramidal and cerebellar signs, and also bulbar involvement leading to complete aphonia and swallowing difficulties, even though one of the cases had an intermediate phenotype between H-ABC syndrome and DYT4. Genetic analysis of the TUBB4A gene showed one previously described and two novel mutations (c.941C>T; p.Ala314Val and c.900G>T; p.Met300Ile) in the exon 4 of the gene. While expanding the genetic spectrum of H-ABC syndrome, we confirm its radiological heterogeneity and demonstrate that phenotypic overlap with DYT4. Moreover, reappraisal of previously reported cases would also argue against pleiotropy of TUBB4A mutations. We therefore suggest that H-ABC and DYT4 belong to a continuous phenotypic spectrum associated with TUBB4A mutations.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="In-Process"><PMID Version="1">25545912</PMID><DateCreated><Year>2015</Year><Month>05</Month><Day>20</Day></DateCreated><DateRevised><Year>2015</Year><Month>10</Month><Day>13</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>30</Volume><Issue>6</Issue><PubDate><Year>2015</Year><Month>May</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?</ArticleTitle><Pagination><MedlinePgn>828-33</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26129</ELocationID><Abstract><AbstractText>Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome, a rare neurodegenerative disorder of infancy and childhood. TUBB4A mutations also have been described as causative of DYT4 ("hereditary whispering dysphonia"). However, in DYT4, brain imaging has been reported to be normal and, therefore, H-ABC syndrome and DYT4 have been construed to be different disorders, despite some phenotypic overlap. Hence, the question of whether these disorders reflect variable expressivity or pleiotropy of TUBB4A mutations has been raised. We report four unrelated patients with imaging findings either partially or totally consistent with H-ABC syndrome, who were found to have TUBB4A mutations. All four subjects had a relatively homogenous phenotype characterized by severe generalized dystonia with superimposed pyramidal and cerebellar signs, and also bulbar involvement leading to complete aphonia and swallowing difficulties, even though one of the cases had an intermediate phenotype between H-ABC syndrome and DYT4. Genetic analysis of the TUBB4A gene showed one previously described and two novel mutations (c.941C>T; p.Ala314Val and c.900G>T; p.Met300Ile) in the exon 4 of the gene. While expanding the genetic spectrum of H-ABC syndrome, we confirm its radiological heterogeneity and demonstrate that phenotypic overlap with DYT4. Moreover, reappraisal of previously reported cases would also argue against pleiotropy of TUBB4A mutations. We therefore suggest that H-ABC and DYT4 belong to a continuous phenotypic spectrum associated with TUBB4A mutations.</AbstractText><CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Erro</LastName><ForeName>Roberto</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Dipartimento di Scienze Neurologiche e del Movimento, Università di Verona, Verona, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hersheson</LastName><ForeName>Joshua</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ganos</LastName><ForeName>Christos</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University Medical Center Hamburg-Eppendorf (UKE), Neurology, Hamburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mencacci</LastName><ForeName>Niccoló E</ForeName><Initials>NE</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stamelou</LastName><ForeName>Maria</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Second Department of Neurology, Kapodistrian University of Athens, Greece.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Neurology Clinic, Philipps University, Marburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Batla</LastName><ForeName>Amit</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thust</LastName><ForeName>Stefanie Catherine</ForeName><Initials>SC</Initials><AffiliationInfo><Affiliation>The Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bras</LastName><ForeName>Jose M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guerreiro</LastName><ForeName>Rita J</ForeName><Initials>RJ</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Quinn</LastName><ForeName>Niall P</ForeName><Initials>NP</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Houlden</LastName><ForeName>Henry</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash P</ForeName><Initials>KP</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>G-0907</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>12</Month><Day>27</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">DYT4</Keyword><Keyword MajorTopicYN="N">TUBB4A</Keyword><Keyword MajorTopicYN="N">beta-tubulin</Keyword><Keyword MajorTopicYN="N">hypomyelination with atrophy of basal ganglia and cerebellum</Keyword><Keyword MajorTopicYN="N">mutations</Keyword><Keyword MajorTopicYN="N">whispering dystonia</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>7</Month><Day>9</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2014</Year><Month>10</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>10</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2014</Year><Month>12</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>12</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>12</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>12</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25545912</ArticleId><ArticleId IdType="doi">10.1002/mds.26129</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour 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