Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome

Parkinsonism and Related Disorders

Volumn 16, Issue 9, 2010, Pages 585-589

  Huang, Chia Ling ^a   Lan, Min Yu ^a   Chang, Yung Yee ^a   Hsu, Chia Yu ^a   Lai, Szu Chia ^a   Chen, Rou Shayn ^a   Chang, Hsiu Chen ^a   Lu, Chin Song ^a   Wu Chou, Yah Huei ^a  

^a CHANG GUNG UNIVERSITY   (Taiwan)

Author keywords

Epsilon sarcoglycan gene; Large deletion; MLPA; Myoclonus dystonia (M D)

Indexed keywords

EPSILON SARCOGLYCAN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; MYOCLONUS DYSTONIA; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TAIWAN;

ADULT; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; EXONS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; SARCOGLYCANS; SEQUENCE DELETION; TAIWAN;

EID: 77958151334     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2010.06.016     Document Type: Article

References (22)

1. Saunders-Pullman R., Shriberg J., Heiman G., Raymond D., Wendt K., Kramer P., et al. Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Neurology 2002, 58:242-245.
2. Foncke E.M., Klein C., Koelman J.H., Kramer P.L., Schilling K., Müller B., et al. Hereditary myoclonus-dystonia associated with epilepsy. Neurology 2003, 60:1988-1990.
3. Klein C. Myoclonus and myoclonus-dystonia. Genetics of movement disorders 2003, 451-471. Academic Press, New York. S.M. Pulst (Ed.).
4. Hedrich K., Meyer E.M., Schüle B., Kock N., de Carvalho Aguiar P., Wiegers K., et al. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. Neurology 2004, 62:1229-1231.
5. Borges V., Aguiar P de C., Ferraz H.B., Ozelius L.J. Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia. Mov Disord 2007, 22:1208-1209.
6. Zimprich A., Grabowski M., Asmus F., Naumann M., Berg D., Bertram M., et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001, 29:66-69.
7. Grabowski M., Zimprich A., Lorenz-Depiereux B., Kalscheuer V., Asmus F., Gasser T., et al. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 2003, 11:138-144.
8. Ritz K., Gerrits M.C., Foncke E.M., van Ruissen F., van der Linden C., Vergouwen M.D., et al. Myoclonus-Dystonia: clinical and genetic evaluation of a large cohort. J Neurol Neurosurg Psychiatry 2009, 80:653-658.
9. Asmus F., Salih F., Hjermind L.E., Ostergaard K., Munz M., Kühn A.A., et al. Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. Ann Neurol 2005, 58:792-797.
10. Grünewald A., Djarmati A., Lohmann-Hedrich K., Farrell K., Zeller J.A., Allert N., et al. Myoclonus-dystonia: significance of large SGCE deletions. Hum Mutat 2008, 29:331-332.
11. Kinugawa K., Vidailhet M., Clot F., Apartis E., Grabli D., Roze E. Myoclonus-dystonia: an update. Mov Disord 2009, 24:479-489.
12. Chung E.J., Lee W.Y., Kim J.Y., Kim J.H., Kim G.M., Ki C.S., et al. Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease. Mov Disord 2007, 22:1206-1207.
13. Chen X.P., Zhang Y.W., Zhang S.S., Chen Q., Burgunder J.M., Wu S.H., et al. A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome. Mov Disord 2008, 23:1472-1475.
14. Tai C.H., Yen R.F., Lin C.H., Yen K.Y., Yip P.K., Wu R.M., et al. Focal brain glucose hypermetabolism in myoclonus-dystonia syndrome caused by an epsilon-sarcoglycan gene mutation. Parkinsonism Relat Disord 2009, 15:614-616.
15. Valente E.M., Edwards M.J., Mir P., DiGiorgio A., Salvi S., Davis M., et al. The epsilon-sarcoglycan gene in myoclonic syndromes. Neurology 2005, 64:737-739.
16. Nardocci N., Zorzi G., Barzaghi C., Zibordi F., Ciano C., Ghezzi D., et al. Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord 2008, 23:28-34.
17. DeBerardinis R.J., Conforto D., Russell K., Kaplan J., Kollros P.R., Zackai E.H., et al. Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. Am J Med Genet 2003, 121:31-36.
18. Asmus F., Hjermind L.E., Dupont E., Wagenstaller J., Haberlandt E., Munz M., et al. Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 2007, 130:2736-2745.
19. Luciano M.S., Ozelius L., Sims K., Raymond D., Liu L., Saunders-Pullman R. Responsiveness to levodopa in epsilon-sarcoglycan deletions. Mov Disord 2009, 24:425-428.
20. Asmus F., Langseth A., Doherty E., Nestor T., Munz M., Gasser T., et al. "Jerky" dystonia in children: spectrum of phenotypes and genetic study. Mov Disord 2009, 24:702-709.
21. Han F., Racacho L., Yang H., Read T., Suchowersky O., Lang A.E., et al. Large deletions account for an increasing number of mutations in SGCE. Mov Disord 2008, 23:456-460.
22. Vidailhet M., Tassin J., Durif F., Nivelon-Chevallier A., Agid Y., Brice A., et al. A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q. Neurology 2001, 56:1213-1216.