A Novel GJA1 Mutation in Oculodentodigital Dysplasia with Progressive Spastic Paraplegia and Sensory Deficits

DOI Web Site 参考文献26件
  • Furuta Natsumi
    Department of Neurology, Gunma University Graduate School of Medicine, Japan Department of Neurology, Maebashi Red Cross Hospital, Japan
  • Ikeda Masaki
    Department of Neurology, Gunma University Graduate School of Medicine, Japan
  • Hirayanagi Kimitoshi
    Department of Neurology, Gunma University Graduate School of Medicine, Japan Department of Neurology, Maebashi Red Cross Hospital, Japan
  • Fujita Yukio
    Department of Neurology, Gunma University Graduate School of Medicine, Japan
  • Amanuma Makoto
    Diagnostic Radiology and Nuclear Medicine, Gunma University Graduate School of Medicine, Japan
  • Okamoto Koichi
    Department of Neurology, Gunma University Graduate School of Medicine, Japan

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Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disorder mainly affecting the development of the face, eyes, dentition, limbs, hair and heart. GJA1 (the gap junction protein α-1) has been determined to be a causative gene of ODDD, mapped to chromosome 6q22-24 identified as the connexin 43 gene (Cx43). We found a novel GJA1 mutation (W25C) as the possible causative gene in this sporadic ODDD patient with neurological features of motor deficits by pyramidal tract signs, and sensory deficits due to peripheral nerve disturbance. It is also notable that the MRI of this patient demonstrated widespread aberrant signal lesions in the brain and brainstem.<br>

収録刊行物

  • Internal Medicine

    Internal Medicine 51 (1), 93-98, 2012

    一般社団法人 日本内科学会

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