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The gene for Machado–Joseph disease maps to human chromosome 14q

Nature Genetics volume 4, pages 300–304 (1993)Cite this article

Abstract

Machado–Joseph disease (MJD) is an autosomal dominant, multisystem neurodegenerative disorder involving predominantly cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. Although it was first reported in families of Portuguese–Azorean descent, MJD has also been described in non–Azorean families from various countries, being one of the most common hereditary spinocerebellar degenerations. With the use of highly polymorphic microsatellite DNA polymorphisms, we have assigned the gene for MJD to the long arm of chromosome 14 (14q24.3–q32) by genetic linkage to microsatellite loci D14S55 and D14S48 (multipoint lod score Zmax=9.719).

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Authors and Affiliations

  1. Department of Neurology, Jichi Medical School, Minamikawachi, Tochigi, 329-04, Japan

    Y. Takiyama, M. Nishizawa, S. Kawashima, H. Sakamoto, Y. Karube, H. Shimazaki, M. Soutome & M. Yoshida

  2. Department of Neurology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata, 951, Japan

    H. Tanaka, K. Endo, T. Inuzuka, O. Onodera & S. Tsuji

  3. Department of Biochemistry, Jichi Medical School, Minamikawachi, Tochigi, 329-04, Japan

    S. Ohta & Y. Kagawa

  4. Department of Neurology, Institute for Brain Research, University of Tokyo, 7-3-1 Kongo, Tokyo, 113, Japan

    I. Kanazawa

  5. Department of Neurology, Faculty of Medicine, Juntendo University, 3-1-3 Hongo, Tokyo, 113, Japan

    Y. Mizuno

  6. Department of Neurology, Faculty of Medicine, Tokyo Medical and Dental University, 1-5-45 Yushima, Tokyo, 113, Japan

    T. Yuasa

  7. Department of Neurology, Shinrakuen Hospital, 1-27 Nishiariake, Niigata, 950-21, Japan

    Y. Horikawa

  8. The Centre for Materials of Brain Disease, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata, 951, Japan

    K. Oyanagi

  9. Department of Neurology, Suibarago Hospital, 13-23 Suibara, Niigata, 959-21, Japan

    H. Nagai

  10. Department of Neurology, Agano Hospital, Yasuda, Niigata, 959-22, Japan

    T. Kondo

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  1. Y. Takiyama
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Takiyama, Y., Nishizawa, M., Tanaka, H. et al. The gene for Machado–Joseph disease maps to human chromosome 14q. Nat Genet 4, 300–304 (1993). https://doi.org/10.1038/ng0793-300

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