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Introduction/Background
Ataxia-telangiectasia-like disorder (ATLD) is a rare, autosomal recessive disorder characterized by ataxia and oculomotor apraxia that is caused by mutations in the MRE11 gene. ATLD shares many features with ataxia-telangiectasia (AT), thus giving rise to the name.
Pathogenesis
ATLD is caused by mutations in the MRE11A gene. MRE11A encodes a protein that is involved in double-strand DNA break recognition and repair (Stewart et al. 1999). Cells from patients with MRE11A mutations were found to have chromosomal instability, increased sensitivity to ionizing radiation, and defective induction of stress-activated signal transduction pathways (Stewart et al. 1999).
Clinical Presentation
Patients with ATLD have progressive ataxia without telangiectasias. The patients share many clinical features with AT; however, the reported cases have been notable for slower progression of the disease with longer survival (Delia et al. 2004).
In contrast to AT,...
References
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Delia D, Piane M, Buscemi G, et al. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. Hum Mol Genet. 2004;13(18):2155–63. https://doi.org/10.1093/hmg/ddh221.
Fernet M, Gribaa M, Salih MAM, Seidahmed MZ, Hall J, Koenig M. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet. 2005;14(2):307–18. https://doi.org/10.1093/hmg/ddi027.
Miyamoto R, Morino H, Yoshizawa A, et al. Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia. J Neurol Sci. 2014;337(1–2):219–23. https://doi.org/10.1016/j.jns.2013.11.032.
Stewart GS, Maser RS, Stankovic T, et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell. 1999;99(6):577–87.
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Barmettler, S. (2019). Ataxia-Telangiectasia-Like Disorder (ATLD). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_186-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_186-1
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