Autosomal dominant arthropathy in a French family.
We studied a French family in which 18 adult members had destructive arthropathy and enthesopathic changes. In 16 patients, the diagnosis was verified radiologically, and in the 2 other patients, the clinical history was consistent with familial arthropathy. The disease predominantly affects the wrists, fingers, shoulders, and peripheral entheses, and its onset occurs after age 18. Genetic transmission is autosomal dominant, with 100% penetrance, and is not related to the HLA system. The clinical and radiologic features are strikingly similar in all patients in successive generations and different branches of the genealogic tree, and this suggests monogenic transmission.
Gaucher
A
A
Clinique de Rhumatologie Unité, Université de Nancy I, France.
Weryha
G
G
Perrier
P
P
Moreau
P
P
Pere
P
P
Gillet
P
P
Vu
V D
VD
D000367:Age Factors; D000843:Ankle Joint; D001168:Arthritis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000276:immunology; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D005602:France; D005799:Genes, Dominant; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D014955:Wrist Joint
D006680:HLA Antigens