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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Bibliographic Details
Published inTranslational neuroscience Vol. 13; no. 1; pp. 116 - 119
Main Authors 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 Journal Article
LanguageEnglish
Published Warsaw De Gruyter 07.06.2022
De Gruyter Poland
Subjects
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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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:2081-6936
2081-3856
2081-6936
DOI:10.1515/tnsci-2022-0219