Ultrastructure of peripheral nerve in Cockayne's syndrome

Peripheral neuropathy in Cockayne syndrome

“…Although the involvement of the peripheral nervous system does not appear to be a symptom of major relevance [3], nerve conduction velocity is frequently lowered [8,11] even in the absence of clinical disturbances. The neuropathologic study of the sural nerve in our case confirms the previously reported demyelinating type of peripheral neuropathy in Cockayne's syndrome [1,4,5,7,9,11]. In the two siblings reported here the motor conduction velocity was impaired only in the more severely disabled patient.…”

“…The occurrence of a peripheral neuropathy in Cockayne's syndrome has often been reported [1,4,5,7,9,11]. The occurrence of a peripheral neuropathy in Cockayne's syndrome has often been reported [1,4,5,7,9,11].…”

“…In some cases of Cockayne's syndrome [1,7,11] electron dense and vacuolated membrane-bound inclusions have been reported in Schwann or perineurial cells, suggesting a concomitant involvement of central and peripheral myelin, as observed in leukodystrophies. In the present case membrane-bound electron dense finely granular or lamellated structures were occasionally observed in only a few Schwann cells.…”

Cockayne syndrome: Review of 140 cases

“…Of 53 patients who had electroencephalograms, 22 showed normal results. Of the 31 abnormal records [11,30,32,36,47,54,57,60,77, 88,98,99,104,115,119,19 showed only slowing, which was usually mild; 3 had low-voltage, nonspecific changes; 2 had generalized slowing with right occipital spikes (of these, one was performed shortly after a clinical seizure and also showed focal occipital slowing); 1 had generalized epileptiform discharges; another paroxysmal slow bursts; 1 showed "generalized cortical dysfunction"; and the last showed changes "pathognomonic of white matter disease." Visual or auditory evoked potentials have been abnormal in all 9 patients studied [26,47,82,85,119,1281. Electromyography with nerve conduction velocity analysis (EMG/NCV) has been normal in only 6 patients and abnormal in 33 [1,3,11,25,26,32,33,38,47,48,57, 60,64,77,88,94,99,104,107,115,117,1281, almost universally showing slowed nerve conduction velocities (usually in the range of 20-38 meters/second).…”

“…Nerve biopsies have been normal in 4 patients and have shown myelination abnormalities (segmental demyelination, demyelination with remyelination, or demyelination otherwise uncharacterized) in 15 [ 1,36,57,77,88,104,117,119,128,134]. Membrane-bound granular material was seen on 1 biopsy, and axonal degeneration on another.…”