Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
Identifieur interne : 002B90 ( PubMed/Curation ); précédent : 002B89; suivant : 002B91Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
Auteurs : Alfonso Fasano [Italie] ; Nardo Nardocci ; Antonio Emanuele Elia ; Giovanna Zorzi ; Anna Rita Bentivoglio ; Alberto AlbaneseSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Aged, Child, Chromosome Deletion, Disability Evaluation, Disease Progression, Dystonia Musculorum Deformans (diagnosis), Dystonia Musculorum Deformans (genetics), Female, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Neurologic Examination, Phenotype, Torticollis (diagnosis), Torticollis (genetics), Trinucleotide Repeats.
- MESH :
- chemical , genetics : Molecular Chaperones.
- diagnosis : Dystonia Musculorum Deformans, Torticollis.
- genetics : Dystonia Musculorum Deformans, Torticollis.
- Adolescent, Adult, Age Factors, Aged, Child, Chromosome Deletion, Disability Evaluation, Disease Progression, Female, Humans, Male, Middle Aged, Neurologic Examination, Phenotype, Trinucleotide Repeats.
Abstract
To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were noted. The 14 patients (25%) with GAG deletion (904_906/907_909delGAG) in the DYT1 gene were compared with the remaining non-DYT1 patients. Cranial involvement was present in 49% of non-DYT1 cases, but only 14% of DYT1 cases; non-DYT1 patients were younger at time of generalization. DYT1 cases had features similar to sporadic non-DYT1 cases but differed markedly from familial non-DYT1 cases, the latter having later age at onset, less common limb onset, more frequent cervical involvement, and slower progression than DYT1 PTD. These findings indicate that non-DYT1 forms of EO-PTD differ clinically from those of DYT1 forms. Cranial involvement before 21 years of age is the strongest predictor of non-DYT1 status. Positive family history and cervical involvement are associated with less severe progression in non-DYT1 forms.
DOI: 10.1002/mds.21000
PubMed: 16773641
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.</title><author><name sortKey="Fasano, Alfonso" sort="Fasano, Alfonso" uniqKey="Fasano A" first="Alfonso" last="Fasano">Alfonso Fasano</name><affiliation wicri:level="1"><nlm:affiliation>Università Cattolica del Sacro Cuore, Roma, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Università Cattolica del Sacro Cuore, Roma</wicri:regionArea></affiliation></author><author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name></author><author><name sortKey="Elia, Antonio Emanuele" sort="Elia, Antonio Emanuele" uniqKey="Elia A" first="Antonio Emanuele" last="Elia">Antonio Emanuele Elia</name></author><author><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.21000</idno><idno type="RBID">pubmed:16773641</idno><idno type="pmid">16773641</idno><idno type="wicri:Area/PubMed/Corpus">002B90</idno><idno type="wicri:Area/PubMed/Curation">002B90</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.</title><author><name sortKey="Fasano, Alfonso" sort="Fasano, Alfonso" uniqKey="Fasano A" first="Alfonso" last="Fasano">Alfonso Fasano</name><affiliation wicri:level="1"><nlm:affiliation>Università Cattolica del Sacro Cuore, Roma, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Università Cattolica del Sacro Cuore, Roma</wicri:regionArea></affiliation></author><author><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name></author><author><name sortKey="Elia, Antonio Emanuele" sort="Elia, Antonio Emanuele" uniqKey="Elia A" first="Antonio Emanuele" last="Elia">Antonio Emanuele Elia</name></author><author><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author><author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Child</term><term>Chromosome Deletion</term><term>Disability Evaluation</term><term>Disease Progression</term><term>Dystonia Musculorum Deformans (diagnosis)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Neurologic Examination</term><term>Phenotype</term><term>Torticollis (diagnosis)</term><term>Torticollis (genetics)</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Torticollis</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Torticollis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Child</term><term>Chromosome Deletion</term><term>Disability Evaluation</term><term>Disease Progression</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Phenotype</term><term>Trinucleotide Repeats</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were noted. The 14 patients (25%) with GAG deletion (904_906/907_909delGAG) in the DYT1 gene were compared with the remaining non-DYT1 patients. Cranial involvement was present in 49% of non-DYT1 cases, but only 14% of DYT1 cases; non-DYT1 patients were younger at time of generalization. DYT1 cases had features similar to sporadic non-DYT1 cases but differed markedly from familial non-DYT1 cases, the latter having later age at onset, less common limb onset, more frequent cervical involvement, and slower progression than DYT1 PTD. These findings indicate that non-DYT1 forms of EO-PTD differ clinically from those of DYT1 forms. Cranial involvement before 21 years of age is the strongest predictor of non-DYT1 status. Positive family history and cervical involvement are associated with less severe progression in non-DYT1 forms.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16773641</PMID><DateCreated><Year>2006</Year><Month>09</Month><Day>27</Day></DateCreated><DateCompleted><Year>2007</Year><Month>02</Month><Day>02</Day></DateCompleted><DateRevised><Year>2012</Year><Month>02</Month><Day>23</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>21</Volume><Issue>9</Issue><PubDate><Year>2006</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.</ArticleTitle><Pagination><MedlinePgn>1411-8</MedlinePgn></Pagination><Abstract><AbstractText>To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were noted. The 14 patients (25%) with GAG deletion (904_906/907_909delGAG) in the DYT1 gene were compared with the remaining non-DYT1 patients. Cranial involvement was present in 49% of non-DYT1 cases, but only 14% of DYT1 cases; non-DYT1 patients were younger at time of generalization. DYT1 cases had features similar to sporadic non-DYT1 cases but differed markedly from familial non-DYT1 cases, the latter having later age at onset, less common limb onset, more frequent cervical involvement, and slower progression than DYT1 PTD. These findings indicate that non-DYT1 forms of EO-PTD differ clinically from those of DYT1 forms. Cranial involvement before 21 years of age is the strongest predictor of non-DYT1 status. Positive family history and cervical involvement are associated with less severe progression in non-DYT1 forms.</AbstractText><CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Fasano</LastName><ForeName>Alfonso</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Università Cattolica del Sacro Cuore, Roma, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nardocci</LastName><ForeName>Nardo</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Elia</LastName><ForeName>Antonio Emanuele</ForeName><Initials>AE</Initials></Author><Author ValidYN="Y"><LastName>Zorzi</LastName><ForeName>Giovanna</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Bentivoglio</LastName><ForeName>Anna Rita</ForeName><Initials>AR</Initials></Author><Author ValidYN="Y"><LastName>Albanese</LastName><ForeName>Alberto</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>E.1165</GrantID><Agency>Telethon</Agency><Country>Italy</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D016454">Review</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="D018832">Molecular Chaperones</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C108175">TOR1A protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000367">Age Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002872">Chromosome Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004185">Disability Evaluation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018450">Disease Progression</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004422">Dystonia Musculorum Deformans</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018832">Molecular Chaperones</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009460">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014103">Torticollis</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018911">Trinucleotide Repeats</DescriptorName></MeshHeading></MeshHeadingList><NumberOfReferences>51</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>6</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>2</Month><Day>3</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>6</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21000</ArticleId><ArticleId IdType="pubmed">16773641</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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