Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.
A family in the north-east of England with Anderson--Fabry's disease is presented. Alpha-galactosidase activity in plasma and white cells was significantly reduced in three adult male members of the family. One of them had an abnormal chromosome karyotype pattern with an extra Y chromosome (47,XYY) and he was clinically less severely affected than his brothers. Coincidentally five other members of the family suffered from a form of familial spastic paraplegia.
D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000601:surgery; D006801:Humans; D016030:Kidney Transplantation; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D010264:Paraplegia / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000150:complications; D012730:Sex Chromosomes; D013035:Spasm / Q000235:genetics