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
收藏
页码：1988 / 1990
页数：3
相关论文
共 10 条
  • [1] Clinical findings of a myoclonus-dystonia family with two distinct mutations
    Doheny, D
    Danisi, F
    Smith, C
    Morrison, C
    Velickovic, M
    de Leon, D
    Bressman, SB
    Leung, J
    Ozelius, L
    Klein, C
    Breakefield, XO
    Brin, MF
    Silverman, JM
    [J]. NEUROLOGY, 2002, 59 (08) : 1244 - 1246
  • [2] Phenotypic features of myoclonus-dystonia in three kindreds
    Doheny, DO
    Morrison, CE
    Smith, CJ
    Walker, RH
    Abbasi, S
    Müller, B
    Garrels, J
    Liu, L
    Aguiar, PD
    Schilling, K
    Kramer, P
    de Leon, D
    Raymond, D
    Saunders-Pullman, R
    Klein, C
    Bressman, SB
    Schmand, B
    Tijssen, MAJ
    Ozelius, LJ
    Silverman, JM
    [J]. NEUROLOGY, 2002, 59 (08) : 1187 - 1196
  • [3] Gasser T, 1998, Adv Neurol, V78, P325
  • [4] A novel locus for inherited myoclonus-dystonia on 18p11
    Grimes, DA
    Han, F
    Lang, AE
    St George-Hyssop, P
    Racacho, L
    Bulman, DE
    [J]. NEUROLOGY, 2002, 59 (08) : 1183 - 1186
  • [5] Association of a missense change in the D2 dopamine receptor with myoclonus dystonia
    Klein, C
    Brin, MF
    Kramer, P
    Sena-Esteves, M
    de Leon, D
    Doheny, D
    Bressman, S
    Fahn, S
    Breakefield, XO
    Ozelius, LJ
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (09) : 5173 - 5176
  • [6] Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    Leung, JC
    Klein, C
    Friedman, J
    Vieregge, P
    Jacobs, H
    Doheny, D
    Kamm, C
    DeLeon, D
    Pramstaller, PP
    Penney, JB
    Eisengart, M
    Jankovic, J
    Gasser, T
    Bressman, SB
    Corey, DP
    Kramer, P
    Brin, MF
    Ozelius, LJ
    Breakefield, XO
    [J]. NEUROGENETICS, 2001, 3 (03) : 133 - 143
  • [7] MYOCLONIC DYSTONIA
    OBESO, JA
    ROTHWELL, JC
    LANG, AE
    MARSDEN, CD
    [J]. NEUROLOGY, 1983, 33 (07) : 825 - 830
  • [8] Essential myoclonus and myoclonic dystonia
    Quinn, NP
    [J]. MOVEMENT DISORDERS, 1996, 11 (02) : 119 - 124
  • [9] Myoclonus dystonia - Possible association with obsessive-compulsive disorder and alcohol dependence
    Saunders-Pullman, R
    Shriberg, J
    Heiman, G
    Raymond, D
    Wendt, K
    Kramer, P
    Schilling, K
    Kurlan, R
    Klein, C
    Ozelius, LJ
    Risch, NJ
    Bressman, SB
    [J]. NEUROLOGY, 2002, 58 (02) : 242 - 245
  • [10] Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
    Zimprich, A
    Grabowski, M
    Asmus, F
    Naumann, M
    Berg, D
    Bertram, M
    Scheidtmann, K
    Kern, P
    Winkelmann, F
    Müller-Myhsok, B
    Riedel, L
    Bauer, M
    Müller, T
    Castro, M
    Meitinger, T
    Strom, TM
    Gasser, T
    [J]. NATURE GENETICS, 2001, 29 (01) : 66 - 69
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