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

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.

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Bibliographische Detailangaben
Veröffentlicht in:	Translational neuroscience 2022-06, Vol.13 (1), p.116-119
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Abdomen amyloid polyneuropathy Amyloidosis Cranial nerves Disease Electrocardiography familial amyloidosis peripheral disease Family medical history Gastrointestinal symptoms Genetic screening Letter to the Editor Nervous system neuroelectrophysiology Neuropathy p.(Phe64Ser) p.(Phe84Ser) Peripheral neuropathy Pharmaceuticals Skull Spinal cord Transthyretin Ultrasonic imaging
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Beschreibung
Zusammenfassung:	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.
ISSN:	2081-6936 2081-3856 2081-6936
DOI:	10.1515/tnsci-2022-0219