title: Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds.
abstract: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR-FAP. Sequence analysis of TTR gene revealed the presence of four different mutations: Thr49Ala(p.Thr69Ala), Leu55Arg(p.Leu75Arg), Tyr116Ser(p.Tyr136Ser), and Ala36Pro(p.Ala56Pro) from six affected patients and two asymptomatic individuals. Two mutations, Thr49Ala(p.Thr69Ala) and Tyr116Ser(p.Tyr136 Ser), were detected in Chinese FAP patients for the first time. All affected patients manifested a progressive sensorimotor polyneuropathy starting in the lower limbs. The majority of the examined patients displayed cardiomyopathy and vitreous opacities. To avoid misdiagnosis, clinicians should consider screening for TTR variants in patients presenting with progressive polyneuropathy of undetermined origins.
authors.affiliation: Department of Neurology and Research Center of Neurology, Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine Second Affiliated Hospital, Hangzhou, China.
authors.forename: Gonglu
authors.initials: G
authors.lastname: Liu
authors.affiliation: Department of Neurology and Research Center of Neurology, Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine Second Affiliated Hospital, Hangzhou, China.
authors.forename: Wang
authors.initials: W
authors.lastname: Ni
authors.affiliation: Department of Neurology, First Affiliated Hospital of Soochow University, Suzhou, China.
authors.forename: Hongxia
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Neurology and Research Center of Neurology, Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine Second Affiliated Hospital, Hangzhou, China.
authors.forename: Hongfu
authors.initials: H
authors.lastname: Li
authors.affiliation: Department of Neurology, Institute of Neurology, Huashan Hospital Fudan University, Shanghai, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Institute of Neurology, First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
authors.affiliation: Department of Neurology and Research Center of Neurology, Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine Second Affiliated Hospital, Hangzhou, China.
authors.forename: Zhiying
authors.initials: Z
authors.lastname: Wu
mesh_terms: D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics; D011228:Prealbumin / Q000235:genetics*
chemical_list: D011228:Prealbumin
keywords: Chinese; TTR; cardiomyopathy; sensorimotor polyneuropathy; vitreous opacities