Parkinsonism & Related Disorders
Volume 16, Issue 4 , Pages 288-289 , May 2010

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

  • Elisabeth M.J. Foncke

      Affiliations

    • Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, The Netherlands
    • ,
  • Richard J. Beukers

      Affiliations

    • Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, The Netherlands
    • ,
  • Cees C. Tijssen

      Affiliations

    • Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands
    • ,
  • Johannes H.T.M. Koelman

      Affiliations

    • Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, The Netherlands
    • ,
  • Marina A.J. Tijssen

      Affiliations

    • Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, The Netherlands
    • Corresponding Author InformationCorrespondence to: Marina A.J. Tijssen, Department of Neurology H2-222, Academic Medical Centre, P.O. Box 22660, 1100 DD Amsterdam, The Netherlands. Tel.: +31 (0) 20 5663842.

Received 3 June 2009 ,Revised 21 October 2009 ,Accepted 23 October 2009.

References 

  1. Klein C. Myoclonus and myoclonus-dystonias. In:  Pulst SM editors. Genetics of movement disorders. Elsevier science (USA): Academic press; 2003;p. 449–469
  2. Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, et al. Mutations in the gene encoding ɛ-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 DS, van de Warrenburg PBC, Hennekam FAM, Dooijes D, Ippel PF, Verschuuren-Bemelmans CC, et al. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. Hum Genet. 2005;88–91
  5. Vlak MH, Sinke RJ, Rabelink GM, Kremer BP, van de Warrenburg BP. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. Mov Disord. 2006;21:1025–1028
  6. Foncke EMJ, Gerrits M, van Ruissen F, Baas F, Hedrich K, Tijssen CC, 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 JJ, Notermans SLH, Frenken FJM, Gabreels FJ, Joosten EM. Familial essential myoclonus. Brain. 1974;97:131–138
  8. Rivest J, Marsden CD. Trunk and head tremor as isolated manifestations of dystonia. Mov Disord. 1990;5:60–65
  9. Brown P, Rothwell JC, Stevens JM, Lees AJ, Marsden CD. 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 MCF, Foncke EMJ, 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

☆ The authors have no financial interest to disclose.

☆☆ The review of this paper was entirely handled by an Associate Editor, Vincenzo Bonifati.

PII: S1353-8020(09)00258-2

doi: 10.1016/j.parkreldis.2009.10.008

Parkinsonism & Related Disorders
Volume 16, Issue 4 , Pages 288-289 , May 2010

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