Department of Neurology and Neurosurgery, Faculty of Medicine, McGill University, Montreal, QC, Canada.
Can J Neurol Sci. 2020 Nov;47(6):816-819. doi: 10.1017/cjn.2020.114. Epub 2020 Jun 4.
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is caused by a mutation in the transthyretin (TTR) gene. Although classically described as rapidly progressive and life-threatening, recent studies on TTR-FAP show significant genetic and phenotypic heterogeneity depending on geographic localization. In light of new therapeutic advances and their implication for patient management, the aim of our study was to determine the prevalence of TTR-FAP within patients with idiopathic neuropathy in a North American population.
We sequenced the TTR gene in a cohort of patients with idiopathic neuropathy. Genetic screening was performed in 110 patients from two neuromuscular clinics in Montreal, Canada.
No variants of unknown significance or pathogenic mutations were detected in the TTR gene.
Our study confirms that TTR-FAP is a rare entity in our patient population, and that diagnostic yield of screening all patients with idiopathic neuropathy is very low.
转甲状腺素蛋白家族性淀粉样多神经病（TTR-FAP）是由转甲状腺素（TTR）基因突变引起的。尽管经典地描述为快速进展和危及生命，但最近对 TTR-FAP 的研究表明，其存在明显的遗传和表型异质性，这取决于地理定位。鉴于新的治疗进展及其对患者管理的影响，我们的研究旨在确定在加拿大蒙特利尔的两个神经肌肉诊所的特发性神经病患者中 TTR-FAP 的患病率。
我们对一组特发性神经病患者的 TTR 基因进行了测序。对来自加拿大蒙特利尔的两个神经肌肉诊所的 110 名患者进行了基因筛查。
在 TTR 基因中未发现意义不明的变异或致病性突变。
我们的研究证实，在我们的患者群体中，TTR-FAP 是一种罕见的疾病，对所有特发性神经病患者进行筛查的诊断率非常低。
