Abstract
Three unrelated boys with a new multiple congenital anomaly-mental retardation syndrome are reported from the University of Minnesota Medical School, and the Universita Degli Studi di Pisa, Italy.
Highlights
Presenting in 44 juveniles who were tested for CAG repeat expansions in the gene for Huntington's disease (HD) were defined in a study reported by the US Huntington Disease Genetic Testing Group from the Hennepin County Medical Center, Minneapolis, MN
Features of HD presenting in 12 children during the first decade included a family history of HD, usually in the father, and two or more of the following: declining school performance, seizures, oral motor dysfunction, rigidity, and gait disorder
The authors conclude that confirmation of a clinical diagnosis of Huntington's disease by CAG repeat analysis may be considered in a child under 10, provided the characteristic clinical profile of symptoms and positive family history are present, and the patient and family are aware of the relative medical and psychosocial risks and benefits of diagnostic gene testing
Summary
Presenting in 44 juveniles who were tested for CAG repeat expansions in the gene for HD were defined in a study reported by the US Huntington Disease Genetic Testing Group from the Hennepin County Medical Center, Minneapolis, MN. CAG repeat expansions were present in 33 and absent in 11 patients. All patients with CAG expansions had a positive family history of HD.
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