Abstract
This autosomal recessive disorder, with a birth incidence of about 1 in 300,000, is characterized by the development of cerebellar ataxia in the first decade, along with choreoathetosis, dysarthria, and abnormalities of ocular movements. Mental retardation is not usually a feature. The neurological features are progressive, leading to confinement to a wheelchair in the second decade of life. Oculocutaneous telangiectasia develops in childhood (often after ataxia is apparent) and then spreads to involve other exposed cutaneous areas. Vitiligo, café-au-lait spots, and macular hyperpigmentation may occur. The development of acanthosis nigricans is associated with the development of neoplasia. An immune deficiency occurs, with disordered B cell and T helper cell function, thymic hypoplasia, reduced levels of IgA (70 %) and IgE (80 %), and reduced T cells. Frequent bacterial (pulmonary or sinus) infections occur secondary to immunodeficiency. The serum alpha-fetoprotein is consistently elevated. There is an inconsistently increased incidence of spontaneous structural chromosomal aberrations (30–50-fold) (chromatid gaps, breaks and interchanges, and telomere fusions) in cultured white cells and fibroblasts, and this is markedly increased by exposure to X-radiation and radiomimetic agents. Peripheral blood lymphocytes may show abnormal clones of cells with a stable cytogenetic rearrangement, usually involving chromosome 14, particularly involving the T cell receptor genes on 14q11, 7q14, and 7q35. Clones of cells with these translocations may develop into T cell promyelocytic leukemia. Other translocations involve the immunoglobulin genes in B lymphocytes. In vivo sensitivity to X-rays is also observed. Recombination is increased by a factor of 30–200 (Tomanin et al. 1989; Peterson et al. 1992; Viniou et al. 2001; Sun et al. 2002).
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Hodgson, S.V., Foulkes, W.D., Eng, C., Maher, E.R. (2014). Inherited Cancer-Predisposing Syndomes. In: A Practical Guide to Human Cancer Genetics. Springer, London. https://doi.org/10.1007/978-1-4471-2375-0_11
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