Journal of the Neurological Sciences
Volume 288, Issue 1 , Pages 79-87 , 15 January 2010

Novel mutations in the sacsin gene in ataxia patients from Maritime Canada

  • D.L. Guernsey

      Affiliations

    • Department of Pathology, Dalhousie University, Halifax, NS, Canada
    • Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, NS, Canada
  • ,
  • M.-P. Dubé

      Affiliations

    • Montreal Heart Institute, Montreal, Quebec, Canada
    • Department of Medicine, Université de Montréal, Montreal, Quebec, Canada
  • ,
  • H. Jiang

      Affiliations

    • Department of Pathology, Dalhousie University, Halifax, NS, Canada
  • ,
  • G. Asselin

      Affiliations

    • Montreal Heart Institute, Montreal, Quebec, Canada
  • ,
  • S. Blowers

      Affiliations

    • Department of Pathology, Dalhousie University, Halifax, NS, Canada
  • ,
  • S. Evans

      Affiliations

    • Department of Pathology, Dalhousie University, Halifax, NS, Canada
  • ,
  • M. Ferguson

      Affiliations

    • Maritime Medical Genetics, IWK Health Centre, Dalhousie University, Halifax, NS, Canada
  • ,
  • C. Macgillivray

      Affiliations

    • Department of Pathology, Dalhousie University, Halifax, NS, Canada
  • ,
  • M. Matsuoka

      Affiliations

    • Department of Pathology, Dalhousie University, Halifax, NS, Canada
  • ,
  • M. Nightingale

      Affiliations

    • Department of Pathology, Dalhousie University, Halifax, NS, Canada
  • ,
  • A. Rideout

      Affiliations

    • Maritime Medical Genetics, IWK Health Centre, Dalhousie University, Halifax, NS, Canada
  • ,
  • M. Delatycki

      Affiliations

    • Bruce Lefroy Center for Genetic Health Research, Murdoch Children's Research Institute, Genetic Health Services, Royal Children's Hospital, Victoria, Australia
  • ,
  • A. Orr

      Affiliations

    • Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, NS, Canada
  • ,
  • M. Ludman

      Affiliations

    • Maritime Medical Genetics, IWK Health Centre, Dalhousie University, Halifax, NS, Canada
    • Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, NS, Canada
  • ,
  • J. Dooley

      Affiliations

    • Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, NS, Canada
  • ,
  • C. Riddell

      Affiliations

    • Department of Pathology, Dalhousie University, Halifax, NS, Canada
  • ,
  • M.E. Samuels

      Affiliations

    • Department of Medicine, Université de Montréal, Montreal, Quebec, Canada
    • Corresponding Author InformationCorresponding author. Centre de Recherche du CHU Ste-Justine, Local A-733, 3175, Côte Ste-Catherine, Montréal QC, Canada H3T 1C5. Tel.: +1 514 345 4931 p4265; fax: +1 514 345 4801.

Received 20 March 2009 ,Revised 24 September 2009 ,Accepted 29 September 2009.

References 

  1. Soong BW, Paulson HL. Spinocerebellar ataxias: an update. Curr Opin Neurol. 2007 Aug;20(4):438–446
  2. Schmitz-Hubsch T, Klockgether T. An update on inherited ataxias. Curr Neurol Neurosci Rep. 2008 Jul;8(4):310–319
  3. Miyazawa H, Kato M, Awata T, Kohda M, Iwasa H, Koyama N, et al. Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients. Am J Hum Genet. 2007 Jun;80(6):1090–1102
  4. Jiang H, Orr A, Guernsey DL, Robitaille J, Asselin G, Samuels ME, et al. Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data. PLoS ONE. 2009;4(4):e5280
  5. Ruschendorf F, Nurnberg P. ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics. 2005 May 1;21(9):2123–2125
  6. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet. 1998 Jul;63(1):259–266
  7. Edgar RC. MUSCLE: multiple sequence alignment with high accuracy and high throughput. Nucleic Acids Res. 2004;32(5):1792–1797
  8. Nicholas KB, Nicholas HB, Deerfield DW. Genedoc: analysis and visualization of genetic variation. Embnet News. 1997;42(2):1
  9. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 1996 Oct 17;335(16):1169–1175
  10. Dutka DP, Donnelly JE, Nihoyannopoulos P, Oakley CM, Nunez DJ. Marked variation in the cardiomyopathy associated with Friedreich's ataxia. Heart. 1999 Feb;81(2):141–147
  11. Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol. 2009 Mar;256(Suppl 1):3–8
  12. Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol. 1997 May;41(5):675–682
  13. Chew A, Sirugo G, Alsobrook JP, Isaya G. Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin. Genomics. 2000 Apr 15;65(2):104–112
  14. Takiyama Y. Sacsinopathies: sacsin-related ataxia. Cerebellum. 2007 Feb;28:1–7
  15. Engert JC, Berube P, Mercier J, Dore C, Lepage P, Ge B, et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. Feb 2000;24(2):120–125
  16. Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet. 2004 May;74(5):1064–1073
  17. Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ. Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population. Genome Biol. 2007;8(4):R47
  18. Masciullo M, Modoni A, Fattori F, Santoro M, Denora PS, Tonali P, et al. A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. J Neurol. 2008 Sep;255(9):1429–1431
  19. 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 Apr 15;255(1–2):87–89
  20. Shimazaki H, Takiyama Y, Sakoe K, Ando Y, Nakano I. A phenotype without spasticity in sacsin-related ataxia. Neurology. 2005 Jun 28;64(12):2129–2131
  21. Samuels ME, Orr A, Guernsey DL, Dooley K, Riddell C, Hodgkinson K, et al. Is gene discovery research or diagnosis?. Genet Med. 2008 Jun;10(6):385–390
  22. Gurwitz D, Bregman-Eschet Y. Personal genomics services: whose genomes?. Eur J Hum Genet. 2009 Jul;17(7):883–889
  23. Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009 Jun;41(6):651–653
  24. Bentley DR. Whole-genome re-sequencing. Curr Opin Genet Dev. 2006 Dec;16(6):545–552
  25. Kryukov GV, Shpunt A, Stamatoyannopoulos JA, Sunyaev SR. Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci U S A. 2009 Mar 10;106(10):3871–3876
  26. Maher B. Exome sequencing takes centre stage in cancer profiling. Nature. 2009 May 14;459(7244):146–147
  27. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009 May;41(5):535–543
  28. Porreca GJ, Zhang K, Li JB, Xie B, Austin D, Vassallo SL, et al. Multiplex amplification of large sets of human exons. Nat Methods. 2007 Nov;4(11):931–936

PII: S0022-510X(09)00894-6

doi: 10.1016/j.jns.2009.09.034

Journal of the Neurological Sciences
Volume 288, Issue 1 , Pages 79-87 , 15 January 2010