Myoclonus–dystonia syndrome: ε‐sarcoglycan mutations and phenotype

Media type: E-Article
Title: Myoclonus–dystonia syndrome: ε‐sarcoglycan mutations and phenotype
Contributor: Asmus, Friedrich; Zimprich, Alexander; Tezenas Du Montcel, Sophie; Kabus, Christian; Deuschl, Günther; Kupsch, Andreas; Ziemann, Ulf; Castro, Mirna; Kühn, Andrea A.; Strom, Tim M.; Vidailhet, Marie; Bhatia, Kailash P.; Dürr, Alexandra; Wood, Nicholas W.; Brice, Alexis; Gasser, Thomas
imprint: Wiley, 2002
Published in: Annals of Neurology
Language: English
DOI: 10.1002/ana.10325
ISSN: 0364-5134; 1531-8249
Keywords: Neurology (clinical) ; Neurology
Origination:
Footnote:
Description: <jats:title>Abstract</jats:title><jats:p>Mutations in the gene for ε‐sarcoglycan (<jats:italic>SGCE</jats:italic>) have been found to cause myoclonus‐dystonia syndrome. We now report clinical and genetic findings in nine additional European families with myoclonus‐dystonia syndrome. The clinical presentation in 24 affecteds was homogeneous with myoclonus predominantly of neck and upper limbs in 23 of them and dystonia, presenting as cervical dystonia and/or writer's cramp, in 13 cases. Six novel and one previously known heterozygous <jats:italic>SGCE</jats:italic> mutations were identified. <jats:italic>SGCE</jats:italic> deficiency seems to be the common pathogenetic mechanism in myoclonus‐dystonia syndrome.</jats:p>

Search in field: