Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp
Identifieur interne : 001029 ( PascalFrancis/Checkpoint ); précédent : 001028; suivant : 001030Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp
Auteurs : Vasiliki Koukouni [Royaume-Uni] ; Enza Maria Valente [Italie] ; Carla Cordivari [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2008.
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- Pascal (Inist)
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Abstract
Inherited myoclonus dystonia (M-D, DYT11) is an autosomal dominant dystonia-plus syndrome, which in many families is caused by mutations in the SGCE/ (epsilon-sarcoglycan gene. We present a family with M-D, with an unusual presentation characterized by infantile onset with falls in two sisters and adult-onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of alcohol-sensitive myoclonic jerks and dystonia classically affecting mainly the proximal arms and neck. Leg involvement is less frequent, and to our knowledge, initial presentation with falls has not previously been described. The unusual phenotype of the family is discussed.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp</title><author><name sortKey="Koukouni, Vasiliki" sort="Koukouni, Vasiliki" uniqKey="Koukouni V" first="Vasiliki" last="Koukouni">Vasiliki Koukouni</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>IRCCS CSS-Mendel Institute</s1><s2>Rome</s2><s3>ITA</s3><sZ>2 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Medical and Surgical Pediatric Sciences, University of Messina</s1><s2>Messina</s2><s3>ITA</s3><sZ>2 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Messina</wicri:noRegion></affiliation></author><author><name sortKey="Cordivari, Carla" sort="Cordivari, Carla" uniqKey="Cordivari C" first="Carla" last="Cordivari">Carla Cordivari</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery</s1><s2>London</s2><s3>GBR</s3><sZ>3 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0522206</idno><date when="2008">2008</date><idno type="stanalyst">PASCAL 08-0522206 INIST</idno><idno type="RBID">Pascal:08-0522206</idno><idno type="wicri:Area/PascalFrancis/Corpus">001083</idno><idno type="wicri:Area/PascalFrancis/Curation">001C36</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001029</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp</title><author><name sortKey="Koukouni, Vasiliki" sort="Koukouni, Vasiliki" uniqKey="Koukouni V" first="Vasiliki" last="Koukouni">Vasiliki Koukouni</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>IRCCS CSS-Mendel Institute</s1><s2>Rome</s2><s3>ITA</s3><sZ>2 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Medical and Surgical Pediatric Sciences, University of Messina</s1><s2>Messina</s2><s3>ITA</s3><sZ>2 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Messina</wicri:noRegion></affiliation></author><author><name sortKey="Cordivari, Carla" sort="Cordivari, Carla" uniqKey="Cordivari C" first="Carla" last="Cordivari">Carla Cordivari</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery</s1><s2>London</s2><s3>GBR</s3><sZ>3 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term><term>Mutation</term><term>Myoclonus</term><term>Nervous system diseases</term><term>Writer cramp</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Crampe écrivain</term><term>Myoclonie</term><term>Dystonie</term><term>Pathologie du système nerveux</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Inherited myoclonus dystonia (M-D, DYT11) is an autosomal dominant dystonia-plus syndrome, which in many families is caused by mutations in the SGCE/ (epsilon-sarcoglycan gene. We present a family with M-D, with an unusual presentation characterized by infantile onset with falls in two sisters and adult-onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of alcohol-sensitive myoclonic jerks and dystonia classically affecting mainly the proximal arms and neck. Leg involvement is less frequent, and to our knowledge, initial presentation with falls has not previously been described. The unusual phenotype of the family is discussed.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>23</s2></fA05><fA06><s2>13</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp</s1></fA08><fA11 i1="01" i2="1"><s1>KOUKOUNI (Vasiliki)</s1></fA11><fA11 i1="02" i2="1"><s1>VALENTE (Enza Maria)</s1></fA11><fA11 i1="03" i2="1"><s1>CORDIVARI (Carla)</s1></fA11><fA11 i1="04" i2="1"><s1>BHATIA (Kailash P.)</s1></fA11><fA11 i1="05" i2="1"><s1>QUINN (Niall P.)</s1></fA11><fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ></fA14><fA14 i1="02"><s1>IRCCS CSS-Mendel Institute</s1><s2>Rome</s2><s3>ITA</s3><sZ>2 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Medical and Surgical Pediatric Sciences, University of Messina</s1><s2>Messina</s2><s3>ITA</s3><sZ>2 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery</s1><s2>London</s2><s3>GBR</s3><sZ>3 aut.</sZ></fA14><fA20><s1>1913-1915</s1></fA20><fA21><s1>2008</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000184468160170</s5></fA43><fA44><s0>0000</s0><s1>© 2008 INIST-CNRS. 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Bhatia</name><name sortKey="Cordivari, Carla" sort="Cordivari, Carla" uniqKey="Cordivari C" first="Carla" last="Cordivari">Carla Cordivari</name><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name></country><country name="Italie"><region name="Latium"><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></region><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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