[Nerve conduction measurement based on lumbosacral evoked potentials].

Lumbosacral evoked potentials (EP) following stimulation of the posterior tibial nerve at the ankle were recorded with surface electrodes at 5 cm intervals from the lower lumbar to the lower thoracic levels and the site of maximum amplitude was determined by monopolar and bipolar recordings in 27 normal subjects, 37 epileptics receiving anticonvulsant therapy and 22 patients with subacute myelo-optico-neuropathy (SMON). The amplitude of EP in monopolar recording with a reference on the contralateral knee was usually maximum 10 cm above the Jacoby line, which nearly corresponded to the 1st lumbar or 12th thoracic vertebral level. The entire nerve conduction velocity (ENCV) was calculated by dividing the distance from the ankle to the level of maximum amplitude by the peak latency of the N21 or P17. The latency of N21 at the level of maximum evoked potential was used for determining ENCV. The mean ENCV calculated using the peak latency N21 was 49.8 (1.97) m/sec in monopolar recording and 51.2 (2.48) m/sec in bipolar recording, and these values were considered to correspond the sensory conduction along the entire posterior tibial nerve. In epileptic patients mainly treated with anticonvulsant drugs such as phenytoin and phenobarbital, the ENCV was reduced in those treated for over 13 years and in those whose illness was poorly controlled, or large doses were necessary for seizure control. In SMON patients, a significant decrease in ENCV was found in the group under 60 years old in comparison with the normal control group.(ABSTRACT TRUNCATED AT 250 WORDS)

Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers.

Autopsy cases of two brothers with bulbo-spinal muscular atrophy associated with gynecomastia, testicular atrophy and sensory neuropathy are reported. The disease started with finger tremor, proximal muscle weakness and facial muscle twitching at the second and fourth decades, accompanied by bulbar signs and glove-stocking type sensory disturbance. Systemic neurogenic patterns and diminished sensory nerve action potential amplitudes were recorded by electrophysiological studies. A marked loss of myelinated fibers was noticed upon sural nerve biopsy. Gonadal hormone values were normal, except for elevated urinary estrogen. Postmortem examinations revealed a remarkable degeneration of the facial and hypoglossal nuclei, and the spinal cord motoneurons. The skeletal muscles and the tongue showed neurogenic muscular atrophy with fatty replacement. Testicular atrophy was prominent showing hyalinized seminiferous tubuli with nodular and diffuse Leydig cell hyperplasia, containing estrogen immunoreactive substance. These clinical and histological features seemed to be highly compatible with those of Kennedy-Alter-Sung type bulbo-spinal muscular atrophy. The involvement of sensory peripheral nerves, however, was a distinct feature of this family.

Autosomal dominant osteosclerosis associated with familial spinal canal stenosis.

We studied a family with autosomal dominant osteosclerosis associated with familial spinal canal stenosis. The propositus, a 44-year-old Japanese woman, had a 9-month history of occipitalgia and left tinnitus, and also had a 2-month history of pain and numbness of the right upper limb. Radiographic skeletal survey showed osteosclerotic changes in the neurocranium, diaphysis of the long bone, mandible, shoulder, clavicle, and ribs. Serum alkaline phosphatase was normal, and no periosteal excrescences were seen. The inheritance pattern was autosomal dominant. The propositus and her daughter, both with severe osteosclerosis, showed spinal canal stenosis, but her son, whose osteosclerosis was moderate, did not. This is the first report of autosomal dominant osteosclerosis associated with familial spinal canal stenosis.