Table 4 Comparison of MNSI scores, signs at clinical examination, neurophysiological and biopsy findings between patients homozygous and heterozygous (young and old) for the NGFB mutation, and controls (young and old)
PatientMean age (years)QuestionnaireClinical examinationNeurophysiololgyBiopsyRatio<7>7 μm
MNSI historyMNSI statusSensation pinprickSensation touchSensation heatSensation coldENeG index†SSRSuralis biopsy
0+++0+++0+++0+++CorrectedABNormNDNo/mm2Mean diameter
Homozygous* (n = 3)248.30 (2.50)4.00 (0.90)003003012012–1.4 n = 32108530 (2390) n = 38.40 (0.85)0.53
Heterozygous (n = 26)502.00 (1.53)1.79 (1.70)0224002602240323–0.9 n = 2307166448 (1223) n = 67.53 (0.56)1.1
Old heterozygous ⩾55 years (n = 11)712.18 (1.66)2.90 (1.75)01100011029038–1.72 n = 90365875 (568) n = 47.57 (0.71)1.2
Young heterozygous <55 years (n = 15)341.00 (1.29)1.00 (1.30)0114001500150015–0.37 n = 1404107550 (1626) n = 27.50 (0.14)1.0
Controls (n = 28)441.37 (1.88)1.28 (1.55)027002800280028±0.0 n = 135†Control biopsies‡9600 (1457) n = 105.78 (0.62)2.1
Old controls ⩾55 years (n = 9)710.89 (1.27)1.78 (1.39)009009009009
Young controls <55 years (n = 19)311.58¶ (2.06)1.13 (1.61)018001900190019
  • Sensation: 0, absent ; +, reduced; ++, normal.

  • *Minde et al 20049; †Solders et al 199312; ‡Borg et al 198915.

  • §Postoperative sensibility defect left crus and foot.

  • ¶Two young girls had a very high history score but normal status score.

  • AB, absent; ENeG Index, Electroneurography Index; MNSI, Michigan Neuropathy Screening Instrument; ND, not done; SSR, sympathetic skin response.