Journal of the Neurological Sciences
Volume 290, Issue 1 , Pages 186-189 , 15 March 2010

A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia

  • Jae-Sung Lim

      Affiliations

    • Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea
    • ,
  • Jung-Joon Sung

      Affiliations

    • Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea
    • Corresponding Author InformationCorresponding author. Tel.: +82 2 2072 1015; fax: +82 2 3672 7553.
    • Current address: Burnham Center for Neuroscience, Aging, and Stem Cell Research, Burnham Institute for Medical Research, 10901 North Torrey Pines Road, La Jolla, CA 92037, United States. Tel.: +1 619 507 9904; fax: +1 858 795 5273.
    • ,
  • Yoon-Ho Hong

      Affiliations

    • Department of Neurology, Boramae Hospital, Seoul, Republic of Korea
    • ,
  • Seoung-Sup Park

      Affiliations

    • Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Republic of Korea
    • ,
  • Kyung-Seok Park

      Affiliations

    • Department of Neurology, Seoul National University Bundang Hospital, Republic of Korea
    • ,
  • Jeong-In Cha

      Affiliations

    • Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea
    • ,
  • Jee-Young Lee

      Affiliations

    • Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea
    • ,
  • Kwang-Woo Lee

      Affiliations

    • Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon-dong, Jongno-gu, Seoul 110-744, Republic of Korea

Received 27 February 2009 ,Revised 10 October 2009 ,Accepted 15 October 2009.

References 

  1. Fink JK. Hereditary spastic paraplegia. Neurol Clin. 2002;20(3):711–726
  2. Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet. 2003;40(2):81–86
  3. McDermott CJ, Grierson AJ, Wood JD, Bingley M, Wharton SB, Bushby KM, et al. Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann Neurol. 2003;54(6):748–759
  4. McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, et al. Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology. 2006;67(1):45–51
  5. Park SY, Ki CS, Kim HJ, Kim JW, Sung DH, Kim BJ, et al. Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. Arch Neurol. 2005;62(7):1118–1121
  6. Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bonsch D, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet. 2000;9(4):637–644
  7. Patrono C, Scarano V, Cricchi F, Melone MA, Chiriaco M, Napolitano A, et al. Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Hum Mutat. 2005;25(5):506
  8. http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SPAST.
  9. Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, et al. Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. Arch Neurol. 2006;63(5):750–755
  10. Roll-Mecak A, Vale RD. Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature. 2008;451(7176):363–367
  11. Ki CS, Lee WY, Han DH, Sung DH, Lee KB, Lee KA, et al. A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. J Hum Genet. 2002;47(9):473–477
  12. Yabe I, Sasaki H, Tashiro K, Matsuura T, Takegami T, Satoh T. Spastin gene mutation in Japanese with hereditary spastic paraplegia. J Med Genet. 2002;39(8):e46
  13. Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, et al. Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. Arch Neurol. 2004;61(1):49–55

PII: S0022-510X(09)00934-4

doi: 10.1016/j.jns.2009.10.016

Journal of the Neurological Sciences
Volume 290, Issue 1 , Pages 186-189 , 15 March 2010

Article Tools

* Image Usage & Resolution