Recessively inherited 'pure' spastic paraplegia: case study.
Two brothers with 'pure' spastic paraplegia are presented. Inheritance of their condition probably was autosomal recessive. Clinical onset was in the first decade. Peripheral nerve conduction, visual and brain stem auditory evoked potentials were normal. Somatosensory evoked potentials suggested involvement of the cuneate tract. The relevance of neurophysiological evaluation in familial spastic paraplegia is discussed.
D000293:Adolescent; D000367:Age Factors; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005071:Evoked Potentials; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics* / Q000503:physiopathology; D010264:Paraplegia / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree