title: Clinical measures in transthyretin familial amyloid polyneuropathy.
abstract: This observational, cross-sectional, single-center study aimed to identify instruments capable of measuring disease progression in transthyretin familial amyloid polyneuropathy (TTR-FAP).
  
  
  
  The 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.
  
  
  
  Ordinal-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.
  
  
  
  NIS-LL, Norfolk QOL-DN score, composite endpoints of nerve fiber function, and mBMI are valid, reliable measures of TTR-FAP severity. Muscle Nerve 55: 323-332, 2017.
authors.affiliation: Hospital Santo Antonio, Centro Hospitalar do Porto, Largo Prof Abel Salazar, 4099-001, Porto, Portugal.
authors.forename: Teresa
authors.initials: T
authors.lastname: Coelho
authors.affiliation: Eastern Virginia Medical School, Strelitz Diabetes Center, Norfolk, Virginia, USA.
authors.forename: Aaron
authors.initials: A
authors.lastname: Vinik
authors.affiliation: Eastern Virginia Medical School, Strelitz Diabetes Center, Norfolk, Virginia, USA.
authors.forename: Etta J
authors.initials: EJ
authors.lastname: Vinik
authors.affiliation: DM-Stat, Inc., Malden, Massachusetts, USA.
authors.forename: Tara
authors.initials: T
authors.lastname: Tripp
authors.affiliation: FoldRx Pharmaceuticals, Inc., a wholly owned subsidiary of Pfizer, Inc., Cambridge, Massachusetts, USA.
authors.forename: Jeff
authors.initials: J
authors.lastname: Packman
authors.affiliation: FoldRx Pharmaceuticals, Inc., a wholly owned subsidiary of Pfizer, Inc., Cambridge, Massachusetts, USA.
authors.forename: Donna R
authors.initials: DR
authors.lastname: Grogan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000523:psychology / Q000628:therapy*; D000704:Analysis of Variance; D003430:Cross-Sectional Studies; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009412:Nerve Fibers / Q000473:pathology / Q000502:physiology; D011788:Quality of Life; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric; D055815:Young Adult
keywords: Neuropathy Impairment Score; Norfolk Quality of Life; amyloidosis; modified body mass index; nerve fiber function