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本文引用的文献

1
Advances in the treatment of hereditary transthyretin amyloidosis: A review.遗传性转甲状腺素蛋白淀粉样变性病治疗的进展：综述。
Brain Behav. 2019 Sep;9(9):e01371. doi: 10.1002/brb3.1371. Epub 2019 Aug 1.
2
Cerebrospinal fluid and vitreous body exposure to orally administered tafamidis in hereditary ATTRV30M (p.TTRV50M) amyloidosis patients.遗传性 ATTRV30M（p.TTRV50M）淀粉样变性患者口服塔法米迪治疗时脑脊液和玻璃体中的暴露情况。
Amyloid. 2018 Jun;25(2):120-128. doi: 10.1080/13506129.2018.1479249. Epub 2018 Jul 11.
3
Extremely early onset hereditary ATTR amyloidosis with G47R (p.G67R) mutation.伴有G47R（p.G67R）突变的极早发型遗传性转甲状腺素蛋白淀粉样变性
Amyloid. 2016 Sep;23(3):205-206. doi: 10.1080/13506129.2016.1185410. Epub 2016 May 20.
4
Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis.非活检诊断心脏转甲状腺素淀粉样变性。
Circulation. 2016 Jun 14;133(24):2404-12. doi: 10.1161/CIRCULATIONAHA.116.021612. Epub 2016 Apr 22.
5
Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.转甲状腺素蛋白（ATTR）淀粉样变性：临床谱、分子发病机制和疾病修饰治疗。
J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):1036-43. doi: 10.1136/jnnp-2014-308724. Epub 2015 Jan 20.
6
Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient.一名非洲患者中与转甲状腺素蛋白Leu12Pro相关的眼软脑膜淀粉样变性
J Neurol. 2015 Jan;262(1):228-34. doi: 10.1007/s00415-014-7594-2. Epub 2014 Dec 9.
7
The biological and chemical basis for tissue-selective amyloid disease.组织选择性淀粉样变性疾病的生物学和化学基础。
Cell. 2005 Apr 8;121(1):73-85. doi: 10.1016/j.cell.2005.01.018.
8
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47.意大利遗传性淀粉样变性家族中转甲状腺素蛋白基因的突变与转录分析：密码子47处一个假定的新热点
Clin Genet. 2000 Apr;57(4):284-90. doi: 10.1034/j.1399-0004.2000.570407.x.

Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis.

作者信息

Cechin Laura, Gasmelseed Jihad, Bashford James, Rowczenio Dorota, Reilly Mary M, Gillmore Julian D, Coutinho Ester

机构信息

King's College Hospital (LC, JG, JB, EC), London; National Amyloidosis Centre (DR, JDG), Centre for Amyloidosis & Acute Phase Proteins, Division of Medicine, University College London; and Centre for Neuromuscular Diseases (MMR), UCL Queen Square Institute of Neurology, United Kingdom.

出版信息

Neurol Clin Pract. 2021 Oct;11(5):e757-e759. doi: 10.1212/CPJ.0000000000001054.

DOI:10.1212/CPJ.0000000000001054
PMID:34840900
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8610556/
Abstract
摘要