Hereditary myoclonus-dystonia associated with epilepsy

被引：22

作者：

Foncke, EMJ

Klein, C

Koelman, JHTM

Kramer, PL

Schilling, K

Müller, B

Garrels, J

Aguiar, PD

Liu, L

de Froe, A

Speelman, JD

Ozelius, LJ

Tijssen, MAJ

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DD Amsterdam, Netherlands

[2] Epilepsy Ctr de Klokkenberg, Breda, Netherlands

[3] Med Univ Lubeck, Dept Neurol, Lubeck, Germany

[4] Med Univ Lubeck, Dept Human Genet, Lubeck, Germany

[5] Oregon Hlth & Sci Univ, Dept Neurol, Portland, OR 97201 USA

[6] Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10467 USA

来源：

NEUROLOGY | 2003年 / 60卷 / 12期

关键词：

D O I：

10.1212/01.WNL.0000066020.99191.76

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A five-generation Dutch family with inherited myoclonus-dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the epsilon-sarcoglycan gene (SGCE). In three of five gene carriers, epilepsy and/or EEG abnormalities were associated with the symptoms of myoclonus and dystonia. The genetic and clinical heterogeneity of M-D is extended. EEG changes and epilepsy should not be considered exclusion criteria for the clinical diagnosis of M-D.

引用

页码：1988 / 1990

页数：3

共 50 条

[41] Tactile Temporal Discrimination Is Impaired in Myoclonus-Dystonia
Tarrano, Clement
Lamy, Jean-Charles
Delorme, Cecile
McGovern, Eavan M.
Atkinson-Clement, Cyril
Brochard, Vanessa
Thobois, Stephane
Tranchant, Christine
Grabli, David
Degos, Bertrand
Corvol, Jean-Christophe
Pedespan, Jean-Michel
Krystkoviak, Pierre
Houeto, Jean-Luc
Degardin, Adrian
Defebvre, Luc
Apartis, Emmanuelle
Vidailhet, Marie
Roze, Emmanuel
Worbe, Yulia
MOVEMENT DISORDERS, 2020, 35 (12) : 2356 - 2357
[42] Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS)
Rachad, Laila
El Kadmiri, Nadia
Slassi, Ilham
El Otmani, Hicham
Nadifi, Sellama
MOLECULAR NEUROBIOLOGY, 2017, 54 (02) : 939 - 942
[43] Pallidal stimulation relieves myoclonus-dystonia syndrome
Magariños-Ascone, CM
Regidor, I
Martínez-Castrillo, JC
Gómez-Galán, M
Figueiras-Méndez, R
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2005, 76 (07): : 989 - 991
[44] Myoclonus-dystonia: Significance of large SGCE deletions
Grunewald, A.
Djarmati, A.
Lohmann-Hedrich, K.
Farrell, K.
Zeller, J. A.
Allert, N.
Papengut, F.
Petersen, B.
Fung, V.
Sue, C. M.
O'Sullivan, D.
Mahant, N.
Kupsch, A.
Chuang, R. S.
Wiegers, K.
Pawlack, H.
Hagenah, J.
Ozelius, L. J.
Stephani, U.
Schuit, R.
Lang, A. E.
Volkmann, J.
Munchau, A.
Klein, C.
HUMAN MUTATION, 2008, 29 (02) : 331 - 332
[45] A novel genetic prediction score in myoclonus-dystonia
Carecchio, M.
Magliozzi, M.
Copetti, M.
Ferraris, A.
Bernardini, L.
Bonetti, M.
Edwards, M. J.
Torrente, I.
Pellegrini, F.
Comi, C.
Bhatia, K. P.
Valente, E. M.
MOVEMENT DISORDERS, 2012, 27 : S449 - S450
[46] Pallidal neuronal activity in myoclonus-dystonia syndrome
Jodoin, N.
Welter, M.
Apartis, E.
Navarro, S.
Pidoux, B.
Cornu, P.
Agid, Y.
Vidailhet, M.
MOVEMENT DISORDERS, 2006, 21 : S369 - S370
[47] fMRI in gene-positive myoclonus-dystonia
Beukers, R. J.
Foncke, E. M.
van der Meer, J. N.
Nederveen, A. J.
de Ruiter, M. B.
Bour, L. J.
Veltman, D. J.
Tijssen, M. A.
MOVEMENT DISORDERS, 2007, 22 : S140 - S140
[48] Myoclonus-dystonia syndrome:: ε-sarcoglycan mutations and phenotype
Asmus, F
Zimprich, A
du Montcel, ST
Kabus, C
Deuschl, G
Kupsch, A
Ziemann, U
Castro, M
Kühn, AA
Strom, TM
Vidailhet, M
Bhatia, KP
Dürr, A
Wood, NW
Brice, A
Gasser, T
ANNALS OF NEUROLOGY, 2002, 52 (04) : 489 - 492
[49] Genetic heterogeneity in ten families with myoclonus-dystonia
Schüle, B
Kock, N
Svetel, M
Dragasevic, N
Hedrich, K
Aguiar, PD
Liu, L
Kabakci, K
Garrels, J
Meyer, EM
Berisavac, I
Schwinger, E
Kramer, PL
Ozelius, LJ
Klein, C
Kostic, V
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (08): : 1181 - 1185
[50] Myoclonus-dystonia syndrome, obsessive-compulsive disorder and epilepsy: another plus in a dystonia-plus syndrome?
Machado, C.
Pinho, J.
Alves, J. N.
Morgado, P.
Pereira, J.
Lourenco, E.
EUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 : 654 - 654

← 1 2 3 4 5 →