Clinical Variants of Ataxia-Telangiectasia
Although ataxia-telangiectasia (A-T) can be diagnosed on purely clinical grounds and often on inspection, a number of case reports have shown clinical variability that makes diagnosis difficult without laboratory assistance such as determination of serum alpha-fetoprotein (AFP), demonstration of chromosomal aberrations or cellular radiosensitivity studies (Curry et al., 1989; Fiorilli et al., 1985; Sedgwick and Boder, 1991; Stankler and Bennet, 1988; Taylor et al., 1987; Terenty et al., 1978; Tsukahara et al., 1986; Ying and Decoteau, 1981). While some of the variants are characterized by a complete phenotype with additional features, others lack early onset of ataxia, telangiectasia or normal intelligence. Patients without clinical features of A-T but with the characteristic cellular radiosensitivity or chromosomal instability have also been reported (Conley et al., 1986; Weemaes et al., 1981; Wegner et al., 1988).
KeywordsCerebellar Atrophy Nijmegen Breakage Syndrome Progressive Ataxia Cellular Radiosensitivity Mild Ataxia
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