Analysis Of One Familiar Amyloid Polyneuropathy Family With Ocular Abnormalities And Induced By TTR Gene Glu74Lys Mutation

Objective:To analyze the clinical,electrophysiological and genetic features of one familiar amyloid polyneuropathy with ocular abnormalities and caused by TTR gene Glu74Lys mutation.Methods:The clinical,electrophysiological and genetic features of this pedigree were retrospective analyzed through detailed collection of the clinical presentation,electrophysiological examination and detection of disease-causing gene by genetic hereditary peripheral neuron gene chip capture sequencing simultaneously.Results?1?The proband??₈?was a 33-year-old male with an onset age of 32 years old,at first he appeared blurred vision,about 1 year later he appeared weakness especially of the distal extremities gradually.Eye B ultrasound showed vitreous opacity in both eyes;The electrophysiological results displayed multiple axonal damage of sensory motor nerve;pathological examination of sural nerve biopsy showed severe loss of myelinated nerve fibers and Congo red positive amyloid deposition.?2?In the family,?₁??₁??₃??₄??₆??₁ and?₅ all manifested as similar blurred vision and weakness to the proband.The results of eye examination and electrophysiological examination of?₅ were consistent with the proband.?3?Gene chip capture sequencing revealed a heterozygous mutation in the proband TTR gene?exon 3,c.220G>A,p.Glu74Lys?,which is a confirmed FAP pathogenic gene mutation and was firstly reported in the Chinese families.The same mutation presented in the?₅ member,and the gene mutation was not detected in the unaffected IV₂ member.Conclusions:The autosomal-dominant Chinese FAP family caused by TTR gene Glu74Lys mutation presented as an early-onset and rapid-progressioin pattern is characterized by blurred vision and distal limb weakness.electrophysiological examination showed motor-sensory axonal neuropathy changes.