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Table 5 Clinical and laboratory data of the reported cerebrotendinous xanthomatosis patients with peripheral neuropathy [517]

From: Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis

Reference No/ year Total case No/gene mutation/ age or range of age (y/r) Described type of neuropathy Nerve conduction study Sural nerve biopsy Muscle biopsy
[5]/ 1079 4/ND/12-27 S-M pnp D ND ND
[6]/1979 1/ND/25 ND D D ND
[7]/1984 4/ND/35-43 S-M pnp D D D
[8]/1985 1/ND/50 S-M pnp D D ND
[9]/1986 3/ND/14-30 demyelinated S-M pnp D D ND
[10]/1987 1/ND/29 S-M pnp D D D
[11]/1990 1/ND/30 S-M pnp D D ND
[12]/1991 1/ND/22 Axonal pnp D D ND
[13]/1992 10/ND/26-44 Mixed S-M pnp (2) and demyelinating S-M pnp (8) D ND ND
[14]/1995 1/ND/34 Mixed D ND ND
[15]/2000 10/Da/24-54 Axonal pnp (5), mixed pnp (1), pnp (1) D D D
[16]/2007 1/Db/47 Polyneuropathy D ND ND
[17]/2007 1/Dc/42 S-M polyneuropathy D D ND
  1. No = number; ND = not determined; D = determined; S-M = sensori-motor; pnp = peripheral neuropathy;
  2. a = mutations on both alleles of the CYP 27 gene in all 10 patients (Table 1 of [15])
  3. b = mutations 1016C > T (T339M) and 1183C > T (R395C) in the CYP21A2 gene
  4. c = mutations 379C > T (R94W) and 1420 C > T (R441W) in the CYP27A1 gene