Clinical measures in transthyretin familial amyloid polyneuropathy

被引：53
|
作者：
Coelho, Teresa [1 ]
Vinik, Aaron [2 ]
Vinik, Etta J. [2 ]
Tripp, Tara [3 ]
Packman, Jeff [4 ]
Grogan, Donna R. [4 ]
机构：
[1] Hosp Santo Antonio, Ctr Hosp Porto, P-4099001 Oporto, Portugal
[2] Eastern Virginia Med Sch, Strelitz Diabet Ctr, Norfolk, VA 23501 USA
[3] DM Stat Inc, Malden, MA USA
[4] FoldRx Pharmaceut Inc, Cambridge, MA USA
来源：
MUSCLE & NERVE | 2017年 / 55卷 / 03期
关键词：
amyloidosis; modified body mass index; nerve fiber function; Neuropathy Impairment Score; Norfolk Quality of Life; ROCHESTER DIABETIC-NEUROPATHY; RETINOL-BINDING-PROTEIN; LIVER-TRANSPLANTATION; FOLLOW-UP; PERIPHERAL NEUROPATHY; END-POINTS; TAFAMIDIS; SURVIVAL; TRIAL; DYSFUNCTION;
D O I：
10.1002/mus.25257
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
IntroductionThis observational, cross-sectional, single-center study aimed to identify instruments capable of measuring disease progression in transthyretin familial amyloid polyneuropathy (TTR-FAP). MethodsThe relationship between disease stage and Neuropathy Impairment Score-Lower Limbs (NIS-LL) and Norfolk Quality of Life-Diabetic Neuropathy (Norfolk QOL-DN) total score was assessed in 61 (stages 1-3) patients with TTR-FAP (V30M variant) and 16 healthy controls. Composite measures of large- and small-nerve fiber function, and modified body mass index (mBMI) were also assessed. ResultsOrdinal-based NIS-LL and Norfolk QOL-DN scores discriminated between disease stages (P<0.0001 for NIS-LL and Norfolk QOL-DN). Longer disease duration correlated with worse NIS-LL and Norfolk QOL-DN. Karnofsky performance score declined progressively by disease stage. Composite measures of nerve fiber function differentiated stage 1 from stage 2 disease. The mBMI declined with advancing disease. ConclusionsNIS-LL, Norfolk QOL-DN score, composite endpoints of nerve fiber function, and mBMI are valid, reliable measures of TTR-FAP severity. Muscle Nerve55: 323-332, 2017
引用
收藏
页码：323 / 332
页数：10
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