Neurophysiological techniques to detect early small-fiber dysfunction in transthyretin amyloid polyneuropathy

作者：Kissel John T^*; Elsheikh Bakri; King Wendy M; Freimer Miriam; Scott Charles B; Kolb Stephen J; Reyna Sandra P; Crawford Thomas O; Simard Louise R; Krosschell Kristin J; Acsadi Gyula; Schroth Mary K; D'Anjou Guy; LaSalle Bernard; Prior Thomas W; Sorenson Susan; Maczulski Jo Anne; Swoboda Kathryn J

来源：Muscle & Nerve, 2014, 49(2): 187-192.

DOI：10.1002/mus.23901

• specificity
• laser evoked potentials
• sympathetic skin response
• nerve conduction studies
• familial amyloid polyneuropathy
• sensitivity

Introduction: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is characterized by early selective involvement of small nerve fibers. Initial clinical diagnosis is complicated by psychosocial factors. We evaluated diagnostic accuracy of sural sensory nerve action potentials, plantar sympathetic skin response (SSR), and cortical laser-evoked potentials (LEP) to dorsal foot stimulation in the early diagnosis of TTR-FAP.Methods: Sixty-three subjects with TTR-FAP (Val30Met) mutation were split into 2 groups (asymptomatic carriers and early-symptomatic patients) and compared with 33 healthy controls. Results: The diagnostic accuracy of plantar SSR amplitude and LEP N2 latency was similar; all had very high specificity (94 to 97%) but low sensitivity (22 to 32%) in distinguishing controls from carriers and early-symptomatic patients. No control had abnormal results on both tests. Conclusions: Plantar SSR and LEPs have similar diagnostic performance in detecting small-fiber dysfunction in early TTR-FAP; we propose that both tests should be used to investigate this population. Muscle Nerve 49: 181-186, 2014

• 出版日期2014-2
• 单位西北大学