Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation
Identifieur interne : 003530 ( Main/Exploration ); précédent : 003529; suivant : 003531Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation
Auteurs : Elka Stefanova ; Ana Djarmati [Allemagne] ; Dragana Mom Ilovi ; Nataša Dragaševi ; Marina Svetel ; Christine Klein [Allemagne] ; Vladimir S. KostiSource :
- Movement Disorders [ 0885-3185 ] ; 2006-11.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Adult, Alanine (genetics), Chorea (diagnosis), Chorea (genetics), DNA Mutational Analysis (methods), Dyskinesia, Family Health, Female, Humans, MR‐1 mutation, Male, Middle Aged, Muscle Proteins (genetics), Mutation, Nervous system diseases, Regulator gene, Valine (genetics), Yugoslavia (ethnology), paroxysmal nonkinesigenic dyskinesia.
- MESH :
- chemical , genetics : Alanine, Muscle Proteins, Valine.
- geographic , ethnology : Yugoslavia.
- diagnosis : Chorea.
- genetics : Chorea.
- methods : DNA Mutational Analysis.
- Adolescent, Adult, Family Health, Female, Humans, Male, Middle Aged, Mutation.
Abstract
The aim of this study was to describe the clinical features of a large Serbian family with paroxysmal nonkinesigenic dyskinesia (PNKD) and one of the two previously described mutations in the Myofibrillogenesis regulator 1 gene (MR‐1), which causes an alanine‐to‐valine substitution at position 9. In 5 examined out of 12 affected family members, attacks of dyskinesias appeared in the first 6 months of life. Both frequency and severity of attacks showed an age‐dependent incremental–decremental pattern with a peak between 13 to 15 years of age. They were frequently precipitated by stress, caffeine, fever, hunger, tiredness, as well as abrupt changes in temperature. Three of our patients differentiated two types of attacks: mild (120–180 minutes), with a predominance of functionally insignificant choreoathetoid movements, and severe (∼ 15–30 minutes), characterized by disabling dystonic and choreic movements of the extremities, trunk, and face. Sleep was the most reliable factor to discontinue an attack. This Serbian family further demonstrates that recurrent MR‐1 mutations are associated with PNKD worldwide, which will affect genetic testing. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21095
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001A45
- to stream Istex, to step Curation: 001A45
- to stream Istex, to step Checkpoint: 001F90
- to stream PubMed, to step Corpus: 002B00
- to stream PubMed, to step Curation: 002B00
- to stream PubMed, to step Checkpoint: 002E18
- to stream Ncbi, to step Merge: 001839
- to stream Ncbi, to step Curation: 001839
- to stream Ncbi, to step Checkpoint: 001839
- to stream Main, to step Merge: 004844
- to stream PascalFrancis, to step Corpus: 001892
- to stream PascalFrancis, to step Curation: 001429
- to stream PascalFrancis, to step Checkpoint: 001B81
- to stream Main, to step Merge: 004C76
- to stream Main, to step Curation: 003530
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation</title><author><name sortKey="Stefanova, Elka" sort="Stefanova, Elka" uniqKey="Stefanova E" first="Elka" last="Stefanova">Elka Stefanova</name></author><author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name></author><author><name sortKey="Mom Ilovi, Dragana" sort="Mom Ilovi, Dragana" uniqKey="Mom Ilovi D" first="Dragana" last="Mom Ilovi">Dragana Mom Ilovi</name></author><author><name sortKey="Dragasevi, Natasa" sort="Dragasevi, Natasa" uniqKey="Dragasevi N" first="Nataša" last="Dragaševi">Nataša Dragaševi</name></author><author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S." last="Kosti">Vladimir S. Kosti</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:DDF3FA83609427EE223D1165BC2758ECBABCC377</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1002/mds.21095</idno><idno type="url">https://api.istex.fr/document/DDF3FA83609427EE223D1165BC2758ECBABCC377/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001A45</idno><idno type="wicri:Area/Istex/Curation">001A45</idno><idno type="wicri:Area/Istex/Checkpoint">001F90</idno><idno type="wicri:doubleKey">0885-3185:2006:Stefanova E:clinical:characteristics:of</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:16972263</idno><idno type="wicri:Area/PubMed/Corpus">002B00</idno><idno type="wicri:Area/PubMed/Curation">002B00</idno><idno type="wicri:Area/PubMed/Checkpoint">002E18</idno><idno type="wicri:Area/Ncbi/Merge">001839</idno><idno type="wicri:Area/Ncbi/Curation">001839</idno><idno type="wicri:Area/Ncbi/Checkpoint">001839</idno><idno type="wicri:doubleKey">0885-3185:2006:Stefanova E:clinical:characteristics:of</idno><idno type="wicri:Area/Main/Merge">004844</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:07-0021739</idno><idno type="wicri:Area/PascalFrancis/Corpus">001892</idno><idno type="wicri:Area/PascalFrancis/Curation">001429</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001B81</idno><idno type="wicri:doubleKey">0885-3185:2006:Stefanova E:clinical:characteristics:of</idno><idno type="wicri:Area/Main/Merge">004C76</idno><idno type="wicri:Area/Main/Curation">003530</idno><idno type="wicri:Area/Main/Exploration">003530</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation</title><author><name sortKey="Stefanova, Elka" sort="Stefanova, Elka" uniqKey="Stefanova E" first="Elka" last="Stefanova">Elka Stefanova</name><affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Mom Ilovi, Dragana" sort="Mom Ilovi, Dragana" uniqKey="Mom Ilovi D" first="Dragana" last="Mom Ilovi">Dragana Mom Ilovi</name><affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Dragasevi, Natasa" sort="Dragasevi, Natasa" uniqKey="Dragasevi N" first="Nataša" last="Dragaševi">Nataša Dragaševi</name><affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name><affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S." last="Kosti">Vladimir S. Kosti</name><affiliation><wicri:noCountry code="subField">Serbia and Montenegro</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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="2006-11">2006-11</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="2010">2010</biblScope><biblScope unit="page" to="2015">2015</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">DDF3FA83609427EE223D1165BC2758ECBABCC377</idno><idno type="DOI">10.1002/mds.21095</idno><idno type="ArticleID">MDS21095</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>Alanine (genetics)</term><term>Chorea (diagnosis)</term><term>Chorea (genetics)</term><term>DNA Mutational Analysis (methods)</term><term>Dyskinesia</term><term>Family Health</term><term>Female</term><term>Humans</term><term>MR‐1 mutation</term><term>Male</term><term>Middle Aged</term><term>Muscle Proteins (genetics)</term><term>Mutation</term><term>Nervous system diseases</term><term>Regulator gene</term><term>Valine (genetics)</term><term>Yugoslavia (ethnology)</term><term>paroxysmal nonkinesigenic dyskinesia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Alanine</term><term>Muscle Proteins</term><term>Valine</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>Yugoslavia</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dyskinésie</term><term>Gène régulateur</term><term>Mutation</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The aim of this study was to describe the clinical features of a large Serbian family with paroxysmal nonkinesigenic dyskinesia (PNKD) and one of the two previously described mutations in the Myofibrillogenesis regulator 1 gene (MR‐1), which causes an alanine‐to‐valine substitution at position 9. In 5 examined out of 12 affected family members, attacks of dyskinesias appeared in the first 6 months of life. Both frequency and severity of attacks showed an age‐dependent incremental–decremental pattern with a peak between 13 to 15 years of age. They were frequently precipitated by stress, caffeine, fever, hunger, tiredness, as well as abrupt changes in temperature. Three of our patients differentiated two types of attacks: mild (120–180 minutes), with a predominance of functionally insignificant choreoathetoid movements, and severe (∼ 15–30 minutes), characterized by disabling dystonic and choreic movements of the extremities, trunk, and face. Sleep was the most reliable factor to discontinue an attack. This Serbian family further demonstrates that recurrent MR‐1 mutations are associated with PNKD worldwide, which will affect genetic testing. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Dragasevi, Natasa" sort="Dragasevi, Natasa" uniqKey="Dragasevi N" first="Nataša" last="Dragaševi">Nataša Dragaševi</name><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir S." last="Kosti">Vladimir S. Kosti</name><name sortKey="Mom Ilovi, Dragana" sort="Mom Ilovi, Dragana" uniqKey="Mom Ilovi D" first="Dragana" last="Mom Ilovi">Dragana Mom Ilovi</name><name sortKey="Stefanova, Elka" sort="Stefanova, Elka" uniqKey="Stefanova E" first="Elka" last="Stefanova">Elka Stefanova</name><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name></noRegion><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003530 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003530 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:DDF3FA83609427EE223D1165BC2758ECBABCC377
|texte= Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in serbian family with Myofibrillogenesis regulator 1 gene mutation
}}
| This area was generated with Dilib version V0.6.23. |  |