Journal of the Neurological Sciences
Volume 264, Issue 1 , Pages 73-76 , 15 January 2008

Novel SACS mutation in a Belgian family with sacsin-related ataxia

  • Y. Ouyang

      Affiliations

    • Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329-0498, Japan
    • Department of Neurology, The First Affiliated Hospital, China Medical University, Shenyang 110001, Liaoning Province, China
    • ,
  • K. Segers

      Affiliations

    • Department of Human Genetics, Hôpital du Sart Tilman, Liege, Belgium
    • ,
  • O. Bouquiaux

      Affiliations

    • Department of Neurology, Centre Hospitalier de l'Ardenne, Libramont, Belgium
    • ,
  • F.C. Wang

      Affiliations

    • Department of Neurology, Hôpital du Sart Tilman, Liege, Belgium
    • ,
  • N. Janin

      Affiliations

    • Department of Human Genetics, Hôpital du Sart Tilman, Liege, Belgium
    • ,
  • C. Andris

      Affiliations

    • Department of Neurology, Hôpital du Sart Tilman, Liege, Belgium
    • ,
  • H. Shimazaki

      Affiliations

    • Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329-0498, Japan
    • ,
  • K. Sakoe

      Affiliations

    • Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329-0498, Japan
    • ,
  • I. Nakano

      Affiliations

    • Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329-0498, Japan
    • ,
  • Y. Takiyama

      Affiliations

    • Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi 329-0498, Japan
    • Corresponding Author InformationCorresponding author.Tel.: +81 285 58 7352; fax: +81 285 44 5118.

Received 21 May 2007 ,Revised 15 July 2007 ,Accepted 20 July 2007.

References 

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  2. Engert JC, Bérubé P, Mercier J, Dore C, Lepage P, Ge B, et al. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000;24:120–125
  3. Takiyama Y. Autosomal recessive spastic ataxia of Charlevoix–Saguenay. Neuropathology. 2006;26:368–375
  4. Takiyama Y. Sacsinopathies: sacsin-related ataxia. Cerebellum. 2007;6
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  9. Shimazaki H, Sakoe K, Niijima K, Nakano I, Takiyama Y. An unusual case of a spasticity-lacking phenotype with a novel SACS mutation. J Neurol Sci. 2007;255:87–89
  10. Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, et al. A novel mutation in SACS gene in a family from southern Italy. Neurology. 2004;62:100–102
  11. El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol. 2003;60:928–982
  12. Richter AM, Ozgul RK, Poisson VC, Topaloglu H. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) families from Turkey. Neurogenetics. 2004;5:165–170
  13. Criscuolo C, Sacca F, De Michele G, Mancini P, Combarros O, Infante J, et al. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. Mov Disord. 2005;20:1358–1361
  14. Rost B, Sander C. Prediction of protein secondary structure at better than 70% accuracy. J Mol Biol. 1993;232:584–599
  15. Krebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, et al. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain. 2006;129:1456–1462
  16. Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, et al. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet. 2007;121:413–420[Published online]

PII: S0022-510X(07)00492-3

doi: 10.1016/j.jns.2007.07.022

Journal of the Neurological Sciences
Volume 264, Issue 1 , Pages 73-76 , 15 January 2008

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