Familial spastic paraplegia-clinical and pathologic studies in a large kindred.
Clinical studies of members of a six-generation kindred of familial spastic paraplegia support the diagnostic distinction of a pure form of this autosomal dominant disease. Onset was in the fourth decade or later and symptoms were those of progressive gait difficulties with lower limb spasticity and weakness. Sensor, cerebellar and cranial nerve changes were absent. Pathologic changes in one member were confined to the lateral corticospinal tracts and in the fasciculus gracilis.
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D010264:Paraplegia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013116:Spinal Cord / Q000473:pathology