Dominantly Inherited Hypertrophic Neuropathy

Abstract

SUMMARY:Clinical, electrophysiological, and histopathological studies of some members of a family with dominantly inherited hypertrophic neuropathy are presented. Twenty-five members were studied. Seventeen were abnormal on clinical examination. Their ages varied from 2½ to 78 years. Age at onset in 14 of the 17 varied between 2½ and 56 years. Pes cavus and palpable nerve thickening were present in more than half of the affected individuals. All patients had areflexia. Fifteen of the 17 had distal motor weakness as well as mild to moderate sensory impairment. Motor weakness affecting the proximal hip and shoulder girdle muscles was seen in 13 patients. Four patients gave a history of trigeminal neuralgia. Motor nerve conduction velocities were markedly impaired in all the clinically affected members. These studies were normal in the 8 unaffected members. Motor conduction velocities of the proximal segment of the ulnar nerve were slower compared to the distal segment in almost all the affected members. There was no significant correlation between the degree of clinical disability and the extent of impairment in the motor nerve conduction velocities. Sural nerve biopsies were studied. These observations are discussed.

Electrophysiologic Features of Inherited Demyelinating Neuropathies: A Reappraisal

“…13 Studying 82 patients with CMT1A as well as 47 other patients with CMT1 without genetic identification, they showed uniform conduction slowing of ulnar, median, and peroneal nerves, including proximal and distal conduction velocities and F wave latencies. The F wave findings were consistent with previous reports in CMT1 14,15 but did not completely respond to the findings of Meer and Gilliat. 6 As opposed to the reports of Oh and Chang 4 and Hoogendijk et al , 5 they did not find evidence of conduction block.…”

“…The threshold for stimulation in patients with CMT1A can be exceptionally high, and supramaximal stimulation cannot always be certain. 6,15 In addition, in those nerves with low compound motor action potential (CMAP) amplitude or severe chronic denervation/reinnervation, amplitude reductions may be more affected by excessive phase cancellation and temporal dispersion. 16,17 The information that is currently available clearly suggests uniform conduction slowing in patients with CMT1A.…”

MARS1 mutations linked to familial trigeminal neuralgia via the integrated stress response

“…[ 38 ] 3 CMT1A 2/1 3 2/1 NA NA NA PMP22 Robert J. Coffey et al 8 NA 3/5 4 1/3 39-? NA NA NA 1977 Cruse, RP et al [ 39 ] 13 CMT1 6/7 6 More than 4 females NA Hearing loss Demyelinating with seventh and eighth nerve Carb Decompression NA 2000 L.Tacconi et al [ 40 ] 2 NA 2/0 2 2/0 19–24 NA Carb Decompression NA 1981 D. Testa et al [ 41 ] 8 CMT1 6/2 3 2/1 35–46 Motor conduction times of the facial nerves were bilaterally prolonged NA NA 1978 S. K. Mongia et al [ 42 ] 17 NA 9/8 4 NA NA ...…”