A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant

作者：Yan, Xian-rang; Hong, Ming-fan; Zhou, Zhi-hua; Liu, Ai-qun; Peng, Zhong-xing; Wu, Wei-feng; Jing, Cheng; Lin, Jia-xiu; Long, Ying; Yu, Qing-yun^*

来源：2022, 13(1): 116-119.

DOI：10.1515/tnsci-2022-0219

• amyloid polyneuropathy
• familial amyloidosis peripheral disease
• transthyretin
• neuroelectrophysiology
• p.(Phe64Ser)
• p.(Phe84Ser)

We report a 30-year-old man involving gastrointestinal symptoms, vitreous opacity, and multiple cranial neuropathies. Transthyretin-related hereditary amyloidosis genetic testing revealed a rare c.251T > C variant p.(Phe84Ser). Only four cases with this variant have been reported before.

• 单位
  1; 广东药学院