Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
Identifieur interne : 001E34 ( Ncbi/Checkpoint ); précédent : 001E33; suivant : 001E35Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.
Auteurs : Nardo Nardocci [Italie] ; Giovanna Zorzi ; Chiara Barzaghi ; Federica Zibordi ; Claudia Ciano ; Daniele Ghezzi ; Barbara GaravagliaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Chromosomes, Human, Pair 7 (genetics), DNA Primers (genetics), DNA, Complementary (genetics), Disease Progression, Dystonia (epidemiology), Dystonia (genetics), Dystonia (physiopathology), Electromyography, Exons (genetics), Female, Follow-Up Studies, Humans, Infant, Male, Middle Aged, Molecular Chaperones (genetics), Muscle, Skeletal (innervation), Muscle, Skeletal (physiopathology), Myoclonus (epidemiology), Myoclonus (genetics), Myoclonus (physiopathology), Point Mutation (genetics), Protein Splicing (genetics), Sarcoglycans (genetics), Syndrome, Upper Extremity (physiopathology).
- MESH :
- chemical , genetics : DNA Primers, DNA, Complementary, Molecular Chaperones, Sarcoglycans.
- epidemiology : Dystonia, Myoclonus.
- genetics : Chromosomes, Human, Pair 7, Dystonia, Exons, Myoclonus, Point Mutation, Protein Splicing.
- innervation : Muscle, Skeletal.
- physiopathology : Dystonia, Muscle, Skeletal, Myoclonus, Upper Extremity.
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Disease Progression, Electromyography, Female, Follow-Up Studies, Humans, Infant, Male, Middle Aged, Syndrome.
Abstract
Myoclonus-dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation-positive and -negative cases.
DOI: 10.1002/mds.21715
PubMed: 17853490
Affiliations:
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last="Barzaghi">Chiara Barzaghi</name></author><author><name sortKey="Zibordi, Federica" sort="Zibordi, Federica" uniqKey="Zibordi F" first="Federica" last="Zibordi">Federica Zibordi</name></author><author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name></author><author><name sortKey="Ghezzi, Daniele" sort="Ghezzi, Daniele" uniqKey="Ghezzi D" first="Daniele" last="Ghezzi">Daniele Ghezzi</name></author><author><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.21715</idno><idno type="RBID">pubmed:17853490</idno><idno type="pmid">17853490</idno><idno type="wicri:Area/PubMed/Corpus">002525</idno><idno type="wicri:Area/PubMed/Curation">002525</idno><idno 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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>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 7 (genetics)</term><term>DNA Primers (genetics)</term><term>DNA, Complementary (genetics)</term><term>Disease Progression</term><term>Dystonia (epidemiology)</term><term>Dystonia (genetics)</term><term>Dystonia (physiopathology)</term><term>Electromyography</term><term>Exons (genetics)</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Muscle, Skeletal (innervation)</term><term>Muscle, Skeletal (physiopathology)</term><term>Myoclonus (epidemiology)</term><term>Myoclonus (genetics)</term><term>Myoclonus (physiopathology)</term><term>Point Mutation (genetics)</term><term>Protein Splicing (genetics)</term><term>Sarcoglycans (genetics)</term><term>Syndrome</term><term>Upper Extremity (physiopathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>DNA, Complementary</term><term>Molecular Chaperones</term><term>Sarcoglycans</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Dystonia</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 7</term><term>Dystonia</term><term>Exons</term><term>Myoclonus</term><term>Point Mutation</term><term>Protein Splicing</term></keywords><keywords scheme="MESH" qualifier="innervation" xml:lang="en"><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia</term><term>Muscle, Skeletal</term><term>Myoclonus</term><term>Upper Extremity</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>Disease Progression</term><term>Electromyography</term><term>Female</term><term>Follow-Up Studies</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Myoclonus-dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation-positive and -negative cases.</div></front></TEI><affiliations><list><country><li>Italie</li></country></list><tree><noCountry><name sortKey="Barzaghi, Chiara" sort="Barzaghi, Chiara" uniqKey="Barzaghi C" first="Chiara" last="Barzaghi">Chiara Barzaghi</name><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><name sortKey="Ghezzi, Daniele" sort="Ghezzi, Daniele" uniqKey="Ghezzi D" first="Daniele" last="Ghezzi">Daniele Ghezzi</name><name sortKey="Zibordi, Federica" sort="Zibordi, Federica" uniqKey="Zibordi F" first="Federica" last="Zibordi">Federica Zibordi</name><name sortKey="Zorzi, Giovanna" sort="Zorzi, Giovanna" uniqKey="Zorzi G" first="Giovanna" last="Zorzi">Giovanna Zorzi</name></noCountry><country name="Italie"><noRegion><name sortKey="Nardocci, Nardo" sort="Nardocci, Nardo" uniqKey="Nardocci N" first="Nardo" last="Nardocci">Nardo Nardocci</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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