Non‐DYT1 early‐onset primary torsion dystonia: Comparison with DYT1 phenotype and review of the literature
Identifieur interne : 003310 ( Main/Exploration ); précédent : 003309; suivant : 003311Non‐DYT1 early‐onset primary torsion dystonia: Comparison with DYT1 phenotype and review of the literature
Auteurs : Alfonso Fasano [Italie] ; Nardo Nardocci [Italie] ; Antonio Emanuele Elia [Italie] ; Giovanna Zorzi [Italie] ; Anna Rita Bentivoglio [Italie] ; Alberto Albanese [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Enfant.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Aged, Child, Chromosome Deletion, Comparative study, DYT1, Disability Evaluation, Disease Progression, Dystonia, Dystonia Musculorum Deformans (diagnosis), Dystonia Musculorum Deformans (genetics), Female, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Nervous system diseases, Neurologic Examination, Phenotype, Sporadic, Torsion, Torticollis (diagnosis), Torticollis (genetics), Trinucleotide Repeats, childhood onset, dystonia, familial, genetics, sporadic.
- 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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21000
Affiliations:
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Le document en format XML
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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="2006-09">2006-09</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1411">1411</biblScope><biblScope unit="page" to="1418">1418</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">CCE8023AC013FEBCBCABE0216929D80EEB32C974</idno><idno type="DOI">10.1002/mds.21000</idno><idno type="ArticleID">MDS21000</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></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>Comparative study</term><term>DYT1</term><term>Disability Evaluation</term><term>Disease Progression</term><term>Dystonia</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>Nervous system diseases</term><term>Neurologic Examination</term><term>Phenotype</term><term>Sporadic</term><term>Torsion</term><term>Torticollis (diagnosis)</term><term>Torticollis (genetics)</term><term>Trinucleotide Repeats</term><term>childhood onset</term><term>dystonia</term><term>familial</term><term>genetics</term><term>sporadic</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><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Enfant</term><term>Etude comparative</term><term>Phénotype</term><term>Sporadique</term><term>Système nerveux pathologie</term><term>Torsion</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Enfant</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li></region><settlement><li>Rome</li></settlement></list><tree><country name="Italie"><region name="Latium"><name sortKey="Fasano, Alfonso" sort="Fasano, Alfonso" uniqKey="Fasano A" first="Alfonso" last="Fasano">Alfonso Fasano</name></region><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><name sortKey="Elia, Antonio Emanuele" sort="Elia, Antonio Emanuele" uniqKey="Elia A" first="Antonio Emanuele" last="Elia">Antonio Emanuele Elia</name><name sortKey="Elia, Antonio Emanuele" sort="Elia, Antonio Emanuele" uniqKey="Elia A" first="Antonio Emanuele" last="Elia">Antonio Emanuele Elia</name><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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