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Table 5 Clinical and laboratory data of the reported cerebrotendinous xanthomatosis patients with peripheral neuropathy [5–17]

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