A novel mutation in FGD4 causes Charcot–Marie–Tooth disease type 4H with cranial nerve involvement

Daisuke Kondo, Koji Shinoda, Ken ichiro Yamashita, Ryo Yamasaki, Akihiro Hashiguchi, Hiroshi Takashima, Jun ichi Kira

研究成果: Contribution to journalArticle査読

3 被引用数 (Scopus)

抄録

Charcot–Marie–Tooth disease type 4H (CMT4H) is a rare variant of autosomal recessive hereditary neuropathy. It is caused by FGD4 mutations and characterized by early infantile onset, slowly progressive distal muscle weakness, scoliosis, and myelin outfoldings visible in nerve biopsy samples. Here, we report a 65-year-old male born to consanguineous parents, who carries a novel homozygous FGD4 c.724C>T nonsense mutation. He developed lower limb weakness in his teens, which progressed slowly and was accompanied by diplopia, bilateral hearing loss, and erectile dysfunction from his twenties. At the age of 65, he was wheelchair-bound and had mild scoliosis, bilateral ophthalmoplegia, facial muscle weakness, inner ear hearing loss, distal-dominant weakness, and sensory disturbance, but no cognitive deterioration. Magnetic resonance imaging revealed enlarged bilateral trigeminal and facial nerves. Accordingly, we believe that this mutation causes slowly progressive sensorimotor neuropathy with apparent cranial nerve involvement, thereby further expanding the clinical spectrum of CMT4H.

本文言語英語
ページ(範囲)959-961
ページ数3
ジャーナルNeuromuscular Disorders
27
10
DOI
出版ステータス出版済み - 10 2017

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 神経学
  • 臨床神経学
  • 遺伝学(臨床)

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