Ataxia-telangiectasia: diagnosis and treatment
S Perlman, S Becker-Catania, RA Gatti - Seminars in pediatric neurology, 2003 - Elsevier
Much progress has been made in the early diagnosis of ataxia-telangiectasia since the gene
was cloned in 1995. A clinical diagnosis can now be confirmed by radiosensitivity testing
(colony survival assay), immunoblotting, and mutation detection. The diagnostic value of
serum alpha-fetoprotein levels and radiosensitivity has been reevaluated using patients with
diagnoses based on the presence of mutations in the ATM gene and the absence of ATM
protein in nuclear extracts. Little progress has been made in treating the progressive ataxia.
was cloned in 1995. A clinical diagnosis can now be confirmed by radiosensitivity testing
(colony survival assay), immunoblotting, and mutation detection. The diagnostic value of
serum alpha-fetoprotein levels and radiosensitivity has been reevaluated using patients with
diagnoses based on the presence of mutations in the ATM gene and the absence of ATM
protein in nuclear extracts. Little progress has been made in treating the progressive ataxia.