Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: Trunk tremor, myoclonus, and dystonia

Parkinsonism and Related Disorders

Volumn 16, Issue 4, 2010, Pages 288-289

  Foncke, Elisabeth M J ^a   Beukers, Richard J ^a   Tijssen, Cees C ^b   Koelman, Johannes H T M ^a   Tijssen, Marina A J ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b CPRLab   (Netherlands)

Author keywords

Dystonia; Myoclonus; SCA14; Tremor; Trunk

Indexed keywords

EPSILON SARCOGLYCAN;

ADULT; ARTICLE; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL FEATURE; DYSTONIA; EXON; FRAMESHIFT MUTATION; GAIT DISORDER; GENE DELETION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MALE; MYOCLONUS; MYOCLONUS DYSTONIA; PHENOTYPE; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; SPINOCEREBELLAR DEGENERATION TYPE 14; TREMOR;

ADOLESCENT; AGE OF ONSET; DYSTONIA; ELECTROMYOGRAPHY; HUMANS; MALE; MIDDLE AGED; MOVEMENT DISORDERS; MYOCLONUS; PEDIGREE; PHENOTYPE; SPINOCEREBELLAR ATAXIAS; TREMOR; YOUNG ADULT;

EID: 77952888631     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2009.10.008     Document Type: Article

References (12)

1. Klein C. Myoclonus and myoclonus-dystonias. Genetics of movement disorders 2003, 449-469. Academic press, Elsevier science (USA). S.M. Pulst (Ed.).
2. Zimprich A., Grabowski M., Asmus F., Naumann M., Berg D., Bertram M., et al. Mutations in the gene encoding e{open}-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001, 29:66-69.
3. Yamashita I., Sasaki H., Yabe I., Fukazawa T., Nogoshi S., Komeichi K., et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 2000 Aug, 156-163.
4. Verbeek D.S., van de Warrenburg P.B.C., Hennekam F.A.M., Dooijes D., Ippel P.F., Verschuuren-Bemelmans C.C., et al. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. Hum Genet 2005, 88-91.
5. Vlak M.H., Sinke R.J., Rabelink G.M., Kremer B.P., van de Warrenburg B.P. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. Mov Disord 2006, 21:1025-1028.
6. Foncke E.M.J., Gerrits M., van Ruissen F., Baas F., Hedrich K., Tijssen C.C., et al. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. Neurology 2006 Nov 14, 67(9):1677-1680.
7. Korten J.J., Notermans S.L.H., Frenken F.J.M., Gabreels F.J., Joosten E.M. Familial essential myoclonus. Brain 1974, 97:131-138.
8. Rivest J., Marsden C.D. Trunk and head tremor as isolated manifestations of dystonia. Mov Disord 1990, 5:60-65.
9. Brown P., Rothwell J.C., Stevens J.M., Lees A.J., Marsden C.D. Cerebellar axial postural tremor. Mov Disord 1997, 12:977-984.
10. Deuschl G., Raethjen J., Lindemann M., Krack P. The pathophysiology of tremor. Muscle Nerve 2001, 24(7):716-735.
11. Gerrits M.C.F., Foncke E.M.J., de Haan R., Hedrich K. Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. Neurology 2006, 66(5):759-761.
12. Miura S., Nakagawara H., Kaida H., Sugita M., Noda K., Motomura K., et al. Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. Clin Neurol Neurosurg 2009, 211-215.