Pediatric Neurology
Volume 26, Issue 1 , Pages 55-60 , January 2002

Unverricht-Lundborg disease with cystatin B gene abnormalities

  • Kuriko Kagitani-Shimono, MD

      Affiliations

    • Corresponding Author InformationCommunications should be addressed to: Dr. Kagitani-Shimono; Department of Pediatrics, Developmental Medicine; Osaka University, Graduate School of Medicine; Yamadaoka 2-2, Suita; Osaka, 565-0871, Japan
    • Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine, Osaka, Japan
    • ,
  • Katsumi Imai, MD

      Affiliations

    • Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine, Osaka, Japan
    • ,
  • Nobuhiko Okamoto, MD

      Affiliations

    • Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
    • ,
  • Jiro Ono, MD

      Affiliations

    • Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine, Osaka, Japan
    • ,
  • Shintaro Okada, MD

      Affiliations

    • Department of Developmental Medicine (Pediatrics), Osaka University Graduate School of Medicine, Osaka, Japan

Received 7 August 2000 ,Accepted 22 June 2001.

References 

  1. Eldridge R, Iivanainen M, Stern R, Koerber T, Wilder BJ. “Baltic” myoclonus epilepsy (Hereditary disorder of childhood made worse by phenytoin). Lancet. 1983;8:838–842
  2. Pennacchio LA, Lehesjoki AE, Stone NE, et al.  Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science. 1996;271:1731–1734
  3. Lalioti MD, Scott HS, Buresi C, et al.  Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature. 1997;386:847–851
  4. Norio R, Koskiniemi M. Progressive myoclonus epilepsy (Genetic and nosological aspects with special reference to 107 Finnish patients). Clin Genet. 1979;15:382–398
  5. Bespalova IN, Adkins S, Pranzatelli M, Burmeister M. Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. Am J Med Genet. 1997;74:467–471
  6. Lalioti MD, Scott HS, Genton P, et al.  A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. Am J Hum Genet. 1998;62:842–847
  7. Lafreni’ere RG, Rochefort DL, Chrétien N, et al.  Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat Genet. 1997;15:298–302
  8. Wachi M, Sasagawa M, Hasegawa S, et al.  Two cases of Unverricht-Lundborg disease with mutation in the gene encoding cystatin B. J Jpn Epilepsy Soc. 1998;16:100–108
  9. Turk V, Bode W. The cystatins (Protein inhibitors of cysteine proteinases). FEBS Lett. 1991;285:213–219
  10. Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, Myers RM. Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B deficient mice. Nat Genet. 1998;20:251–258
  11. Kyllerman M, Ben-Menachem E. Zonisamide for progressive myoclonus epilepsy (long-term observations in seven patients). Epilepsy Res. 1998;29:109–114
  12. Hurd RW, Wilder BJ, Helveston WR, Uthman BM. Treatment of four siblings with progressive myoclonus epilepsy of the Unverricht-Lundborg type with N-acetylcysteine. Neurology. 1996;47:1264–1268
  13. Obeso JA, Artieda J, Rothwell JC, Day B, Thompson P, Marsden CD. The treatment of severe action myoslous. Brain. 1989;112(Pt 3):765–777
  14. Brown P, Steiger MJ, Thompson PD, et al.  Effectiveness of piracetam in cortical myoclonus. Mov Disord. 1993;8:63–68
  15. Obeso JA. Therapy of myoclonus. Clin Neurosci. 1995–96;3:253–257

PII: S0887-8994(01)00336-8

Pediatric Neurology
Volume 26, Issue 1 , Pages 55-60 , January 2002

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