Clinical Neurology and Neurosurgery
Volume 111, Issue 10 , Pages 791-794 , December 2009

Machado-Joseph disease/SCA3 and myotonic dystrophy type 1 in a single patient

  • Shiroh Miura

      Affiliations

    • Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan
    • Corresponding Author InformationCorresponding author. Tel.: +81 942 31 7560; fax: +81 942 31 7703.
    • ,
  • Yasumasa Ohyagi

      Affiliations

    • Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan
    • ,
  • Taro Miike

      Affiliations

    • Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan
    • ,
  • Kazuhito Noda

      Affiliations

    • Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan
    • ,
  • Kyoko Motomura

      Affiliations

    • Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan
    • ,
  • Mitsuyoshi Ayabe

      Affiliations

    • Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan
    • ,
  • Hisamichi Aizawa

      Affiliations

    • Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan
    • ,
  • Takayuki Taniwaki

      Affiliations

    • Division of Respirology, Neurology, and Rheumatology, Department of Medicine, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan

Received 24 December 2008 ,Revised 17 July 2009 ,Accepted 25 July 2009.

References 

  1. Watanabe M, Abe K, Aoki M, Kameya T, Kaneko J, Shoji M, et al. Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease. J Neurol Sci. 1996;136:101–107
  2. Cancel G, Abbas N, Stevanin G, Dürr A, Chneiweiss H, Néri C, et al. Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am J Hum Genet. 1995;57:809–816
  3. Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet. 1993;4:300–304
  4. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8:221–228
  5. Schara U, Schoser BGH. Myotonic dystrophies types 1 and 2: a summary on current aspects. Semi Pediatr Neurol. 2006;13:71–79
  6. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell. 1992;68:799–808
  7. The International Myotonic Dystrophy Consortium (IDMC) . New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology. 2000;54:1218–1221
  8. Kassubek J, Juengling FD, Hoffmann S, Rosenbohm A, Kurt A, Jurkat-Rott K, et al. Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study. Neurosci Lett. 2003;348:73–76
  9. Kornblum C, Reul J, Kress W, Grothe C, Amanatidis N, Klockgether T, et al. Cranial magnetic resonance imaging in genetically proven myotonic dystrophy types 1 and 2. J Neurol. 2004;251:710–714
  10. Onodera O, Idezuka J, Igarashi S, Takiyama Y, Endo K, Takano H, et al. Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease. Ann Neurol. 1998;43:288–296
  11. Tokumaru AM, Kamakura K, Maki T, Murayama S, Sakata I, Kaji T, et al. Magnetic resonance imaging findings of Machado-Joseph disease: histopathologic correlation. J Comput Assist Tomogr. 2003;27:241–248
  12. Løkkegaard T, Nielsen JE, Hasholt L, Fenger K, Werdelin L, Tranebjærg L, et al. Machado-Joseph disease in three Scandinavian families. J Neurol Sci. 1998;156:152–157
  13. Yamada M, Hayashi S, Tsuji S, Takahashi H. Involvement of the cerebral cortex and autonomic ganglia in Machado-Joseph disease. Acta Neuropathol. 2001;101:140–144
  14. Hayashi M, Kobayashi K, Furuta H. Immunohistochemical study of neuronal intranuclear and cytoplasmic inclusions in Machado-Joseph disease. Psychiatry Clin Neurosci. 2003;57:205–213
  15. Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, Romeo V, et al. The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. J Med Genet. 2008;45:639–646
  16. de León MB, Cisneros B. Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms. J Neurosci Res. 2008;86:18–26
  17. Li Y, Yokota T, Matsumura R, Taira K, Mizusawa H. Sequence-dependent and independent inhibition specific for mutant ataxin-3 by small interfering RNA. Ann Neurol. 2004;56:124–129
  18. Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet. 2006;38:758–769
  19. Hirayama K, Takayanagi T, Nakamura R, Yanagisawa N, Hattori T, Kita K, et al. Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neurol Scand Suppl. 1994;153:1–22
  20. Osame M, Furusho T. Genetic epidemiology of myotonic dystrophy in Kagoshima and Okinawa districts in Japan. Clin Neurol (Tokyo). 1983;23:1067–1071
  21. Pan H, Li YY, Li TC, Tsai WT, Li SY, Hsiao KM. Increased (CTG/CAG)n lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients. Hum Reprod. 2002;17:1578–1583
  22. Ouyang D, Yi L, Liu L, Mu HT, Xi Z. In vitro expansion of DNA triplet repeats with bulge binders and different DNA polymerases. FEBS J. 2008;275:4510–4521

PII: S0303-8467(09)00188-7

doi: 10.1016/j.clineuro.2009.07.016

Clinical Neurology and Neurosurgery
Volume 111, Issue 10 , Pages 791-794 , December 2009

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