Clinical and genetic features of myoclonus-dystonia in 3 cases:: A video presentation

被引：12

作者：

Kock, N

Kasten, M

Schüle, B

Hedrich, K

Wiegers, K

Kabakci, K

Hagenah, J

Pramstaller, PP

Nitschke, MF

Münchau, A

Sperner, J

Klein, C

机构：

[1] Univ Schleswig Holstein, Dept Neurol, Lubeck, Germany

[2] Univ Schleswig Holstein, Dept Human Genet, Lubeck, Germany

[3] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Neurol, Boston, MA USA

[4] Gen Hosp Bolzano, Dept Neurol, Bolzano, Italy

[5] Univ Hamburg, Dept Neurol, Hamburg, Germany

[6] Med Univ Lubeck, Dept Pediat, D-23538 Lubeck, Germany

来源：

MOVEMENT DISORDERS | 2004年 / 19卷 / 02期

关键词：

myoclonus-dystonia; SGCE gene; genetic heterogeneity;

D O I：

10.1002/mds.10635

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous. (C) 2004 Movement Disorder Society

引用

页码：231 / 234

页数：4

共 17 条

[1] Myoclonus-dystonia syndrome:: ε-sarcoglycan mutations and phenotype [J].

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

[2] Clinical findings of a myoclonus-dystonia family with two distinct mutations [J].

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 .

NEUROLOGY, 2002, 59 (08) :1244-1246

[3] Phenotypic features of myoclonus-dystonia in three kindreds [J].

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 .

NEUROLOGY, 2002, 59 (08) :1187-1196

[4] Hereditary myoclonus-dystonia associated with epilepsy [J].

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 .

NEUROLOGY, 2003, 60 (12) :1988-1990

[5] A novel locus for inherited myoclonus-dystonia on 18p11 [J].

Grimes, DA ;

Han, F ;

Lang, AE ;

St George-Hyssop, P ;

Racacho, L ;

Bulman, DE .

NEUROLOGY, 2002, 59 (08) :1183-1186

[6]

Klein C, 2000, AM J HUM GENET, V67, P1314

[7] Association of a missense change in the D2 dopamine receptor with myoclonus dystonia [J].

Klein, C ;

Brin, MF ;

Kramer, P ;

Sena-Esteves, M ;

de Leon, D ;

Doheny, D ;

Bressman, S ;

Fahn, S ;

Breakefield, XO ;

Ozelius, LJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (09) :5173-5176

[8] ε-sarcoglycan mutations found in combination with other dystonia gene mutations [J].

Klein, C ;

Liu, L ;

Doheny, D ;

Kock, N ;

Müller, B ;

Aguiar, PD ;

Leung, J ;

de Leon, D ;

Bressman, SB ;

Silverman, J ;

Smith, C ;

Danisi, F ;

Morrison, C ;

Walker, RH ;

Velickovic, M ;

Schwinger, E ;

Kramer, PL ;

Breakefield, XO ;

Brin, MF ;

Ozelius, LJ .

ANNALS OF NEUROLOGY, 2002, 52 (05) :675-679

[9]

KLEIN C, 2003, GENETICS MOVEMENT DI, P451

[10] Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism [J].

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 .

NEUROGENETICS, 2001, 3 (03) :133-143

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