SENSORY INVOLVEMENT IN X-LINKED SPINE-BULBAR MUSCULAR-ATROPHY (KENNEDYS-SYNDROME) - AN ELECTROPHYSIOLOGICAL STUDY

Electrophysiological findings were studied in a family with spine-bulb ar muscular atrophy (SBMA): the subjects were three male patients aged 58, 38 and 34 years and two female carriers aged 63 and 28 years. Dia gnosis was proven at the molecular genetic level. Electromyography in the males showed spontaneous activity and neurogenic reorganization of the motor unit; motor nerve conduction was normal. Sensory action pot entials were variably reduced in amplitude, but some were completely n ormal. Somatosensory evoked potentials, from both the upper and lower limbs, were invariably abnormal because involvement of the central pat hways was observed. These findings are in agreement with histological investigations documenting lesions in the posterior columns. Brain-ste m acoustic evoked potentials showed an increase in wave I latency. The electrophysiological data provide further evidence of the extent of s ensory damage either in the central or the peripheral nervous system i n SBMA patients, who otherwise have a constant clinical presentation o f progressive motor neuron disease.