Familial spastic paraplegia: an electrophysiological study of central sensory conduction pathways

An electrophysiological assessment has been performed studying somatosensory, visual and auditory pathways in clinically affected and unaffected members from 4 pedigrees with the autosomal form of 'pure' familial spastic paraplegia (n = 32). In some members from 2 families, testing of all 3 sensory pathways showed abnormal results, even in those clinically unaffected. In another family, some had abnormal somatosensory and visual pathways, with no involvement of the auditory pathway. In a further family, the somatosensory and brainstem auditory pathways were abnormal, with sparing of the visual pathway. These findings indicate that the neuronal degeneration in familial spastic paraplegia extends beyond the spinal cord and involves the visual and auditory pathways. The differences between families, and the asymptomatic abnormalities in clinically unaffected members, suggest diversity in the expression of the genetic defect.