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 |