Adult unilateral moyamoya disease with familial occurrence in two definite cases: Case report

  • Kinouchi Tomoya
    Department of Neurosurgery, University of Tokushima Graduate School
  • Suzue Atsuhiko
    Department of Neurosurgery, University of Tokushima Graduate School
  • Uno Masaaki
    Department of Neurosurgery, University of Tokushima Graduate School
  • Nagahiro Shinji
    Department of Neurosurgery, University of Tokushima Graduate School

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Other Title
  • もやもや病疑診例の母親から生まれたもやもや病確診例の姉妹の1家系

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Genetic analysis of the familials of patients with moyamoya disease (MMD) has a significant potential to reveal the etiology of this disease, although neither the detailed etiology nor pathogenesis of MMD has been fully elucidated to date. While a familial history of MMD is apparent in 10-15% of MMD patients, familial occurrence of probable MMD and definite MMD is very rare. We describe an interesting familial case of probable MMD (mother) and definite MMD (2 daughters). This represents a new pattern of familial occurrence of probable and definite MMD.<br>

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