@entity14755 ( @entity14755 ) caused by a mutation in @entity20117 ( @entity20117 ) gene is an @entity74 . The aim of this study is to explore the pathophysiological mechanism of @entity14755 . We prospectively recruited 12 pauci-symptomatic carriers, 18 @entity1 who harbor a @entity20117 mutation, @entity60985 , and two-age matched control groups. Data of nerve excitability test (NET) from ulnar motor and sensory axons were collected.NET study of ulnar motor axons of @entity1 shows increased threshold and rheobase, reduced threshold elevation during hyperpolarizing threshold electrotonus (TE), and increased refractoriness. In sensory nerve studies, there are increased threshold reduction in depolarizing TE, lower slope of recovery and delayed time to overshoot after hyperpolarizing TE, increased refractoriness and superexcitability in recovery cycle. NET profiles obtained from the ulnar nerve of carriers show the increase of threshold and rheobase, whereas no significant threshold changes in hyperpolarizing TE and superexcitability. The regression models demonstrate that the increase of refractoriness and prolonged relative refractory period are correlated to the disease progression from carriers to @entity1 . The marked increase of refractoriness at short-width stimulus suggests a defect in @entity1372 current which may represent an early, pre-symptomatic pathophysiological change in @entity20117 - @entity14755 . Focal disruption of basal lamina and myelin may further increase the internodal capacity, manifested by the lower slope of recovery and delayed time to overshoot after hyperpolarization TE as well as the increase of superexcitability. NET could therefore make a pragmatic tool for monitoring disease progress from the very early stage of @entity20117 - @entity14755 .

The Temporal Profiles of Changes in Nerve Excitability Indices in XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity60985 :: ('p|SUB|A|97|S', 'ProteinMutation') :: ['p.A97S'] @entity1372 :: ('MESH:D012964', 'Chemical') :: ['sodium'] @entity14755 :: ('MESH:D028227', 'Disease') :: ['FAP', 'Familial amyloid polyneuropathy'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal dominant inherited disorder'] @entity20117 :: ('7276', 'Gene') :: ['transthyretin', 'TTR']
@entity14755 :: (MESH:D028227,Disease) :: ['Familial Amyloid Polyneuropathy']
