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. Author manuscript; available in PMC: 2018 Feb 1.
Published in final edited form as: Ann Neurol. 2017 Jan 28;81(2):316–321. doi: 10.1002/ana.24854

TABLE.

Perineurioma Mutation and Clinical Summary of Patients Studied

Case Mutation
Found
Affected
Nerve(s)
Age at
Evaluation,
yr
Gender Symptom
Duration,
mo
Presenting
Symptom
Pain Sensory
Loss
NIS
C1 TRAF7 p.L519P Sciatic 14 M 18 Weakness and atrophy N Y 7
C2 Abnormal CGHa Tibial 35 M 180 Weakness N Y 9.5
C3 TRAF7 p.S561R Sciatic 12 F 6 Weakness Y Y 7
C4 TRAF7 p.S561R Ulnar 13 F 24 Weakness Y Y 3.25
C5 None Sciatic 30 M 78 Weakness Y N 22
C6 TRAF7 p.H521R Brachial plexus 35 M 360 Weakness N Y 49
C7 TRAF7 p.S561R Lumbosacral plexus 2 F 24 Weakness N Y 30
C8 TRAF7 p.L519P Tibial 37 M 77 Weakness N Y 9.5
C9 TRAF7 p.L519P Radial 30 F 48 Pain Y Y 6
C10 Abnormal CGHa Radial 57 F 108 Weakness N Y 11
C11 TRAF7 p.H521R Brachial plexus 12 F 48 Weakness N N 19
C12 TRAF7 p.S561R Sciatic 7 M 60 Weakness N N 14
C13 None Sciatic 34 M 48 Weakness Y Y 11.5
C14 TRAF7 p.H521R Median 40 M 108 Weakness Y Y 9
C15 None Peroneal 18 M 18 Weakness N Y 7
C16 None Sciatic 31 M 156 Weakness and atrophy Y Y 12.25
a

See Figure 2.

CGH = chromosomal genome hybridization; F = female; M = male; N = no; NIS = Neuropathy Impairment Score, which sums total motor, sensory, and reflex abnormalities12; Y = yes.