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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
See this aricle in Pubmed
Article Abstract
Ataxia-telangiectasis (A-T) should be considered in patients with unexplained extrapyramidal symptoms. Early diagnosis is important given the increased risk of malignancies and the higher risk for side effects of subsequent cancer treatment. Measurement of serum alpha-fetoprotein and chromosomal instability precipitates the correct diagnosis. There is a clear genotype-phenotype relation for A-T, since the severity of the phenotype depends on the amount of residual kinase activity as determined by the genotype.
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alpha-fetoprotein
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movement disorder,extrapyramidal
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