Neurophysiological studies in adrenomyeloneuropathy. A report on five cases.
Neurophysiological studies were performed in 5 patients in two families suffering from adrenomyeloneuropathy (AMN). The diagnosis was supported by electron microscopy of nerve twigs in all cases and by the demonstration in 2 cases of increased levels of saturated very long chain fatty acids in cultured fibroblasts (Moser, personal communication). Measurements of the sensory-motor conduction velocities demonstrated the variability of the peripheral nerve damage in AMN, further confirmed by quantitative studies of sensory nerve biopsies. Somatosensory evoked potentials (SEP) were abnormally delayed and their configuration was abnormal, mainly following stimuli applied to the lower limbs. Our data suggest a more severe involvement of the fasciculus gracilis and an extension of the lesions to the medial lemnisci in agreement with the few postmortem reports showing multifocal demyelination. Brain stem auditory evoked potentials (BAEP) were delayed, pointing towards lesions between cochlear nerve and superior olivary nucleus and also at lateral lemniscal level. Morphological confirmation is lacking but the close topographical relationship between the secondary auditory pathways and the medial lemnisci indicates that even small lesions could damage simultaneously both pathways. Neurophysiological studies contribute to the diagnosis of AMN, they confirm the inter- and intrafamilial variability of the clinical features and help to explain the signs and symptoms of this condition.
D000309:Adrenal Insufficiency / Q000503:physiopathology*; D000328:Adult; D001706:Biopsy; D001933:Brain Stem / Q000503:physiopathology; D005072:Evoked Potentials, Auditory; D005073:Evoked Potentials, Somatosensory; D006801:Humans; D007006:Hypogonadism / Q000503:physiopathology*; D008475:Median Nerve / Q000503:physiopathology; D009046:Motor Neurons / Q000502:physiology; D009128:Muscle Spasticity / Q000503:physiopathology; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D009431:Neural Conduction; D010264:Paraplegia / Q000503:physiopathology*; D010523:Peripheral Nervous System Diseases / Q000503:physiopathology*; D013497:Sural Nerve / Q000503:physiopathology