Table 5.
Clinical and laboratory data of the reported cerebrotendinous xanthomatosis patients with peripheral neuropathy [5-17]
| 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 |
No = number; ND = not determined; D = determined; S-M = sensori-motor; pnp = peripheral neuropathy;
a = mutations on both alleles of the CYP 27 gene in all 10 patients (Table 1 of [15])
b = mutations 1016C > T (T339M) and 1183C > T (R395C) in the CYP21A2 gene
c = mutations 379C > T (R94W) and 1420 C > T (R441W) in the CYP27A1 gene