Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds

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 Ala 36Pro(p. Ala56Pro) from six affected patients and two asymptomatic individuals. Two mutations, Thr49Ala (p.Thr69Ala) and Tyr116 Ser(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.

Source: Journal of the Peripheral Nervous System - August 31, 2016 Category: Neurology Authors: Gonglu Liu, Wang Ni, Hongxia Wang, Hongfu Li, Yue Zhang, Ning Wang, Zhiying Wu Tags: RESEARCH REPORTS Source Type: research