title: Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling.
abstract: We have examined a pedigree in which familial spastic paraplegia (FSP) is segregating in four generations. The data show a high rate of transmission of the trait, late onset, reduced penetrance, variable age and symptom expressivity, and an autosomal dominant mode of transmission. A summary of our data together with the FSP data of other shows a 1:1 transmission from males and from females, and an overall 1:1 transmission ratio. The risks for the children of symptomatic and non-symptomatic parents are illustrated.
mesh_terms: D000328:Adult; D000367:Age Factors; D003241:Consanguinity; D005260:Female; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000235:genetics; D010264:Paraplegia / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012306:Risk