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referencesuptodate· REFERENCES· item f22_60_23497

REFERENCES Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988; 336:577. Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995; 268:1749. Ambrose M, Gatti RA. Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions. Blood 2013. Khanna KK, Keating KE, Kozlov S, et al. ATM associates with and phosphorylates p53: mapping the region of interaction. Nat Genet 1998; 20:398. Cortez D, Wang Y, Qin J, Elledge SJ. Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Science 1999; 286:1162. Chen J. Ataxia telangiectasia-related protein is involved in the phosphorylation of BRCA1 following deoxyribonucleic acid damage. Cancer Res 2000; 60:5037. Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med 1987; 316:1289. Swift M, Morrell D, Massey RB, Chase CL. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991; 325:1831. Athma P, Rappaport R, Swift M. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 1996; 92:130. Thompson D, Duedal S, Kirner J, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 2005; 97:813. Baskaran R, Wood LD, Whitaker LL, et al. Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation. Nature 1997; 387:516. Wu X, Ranganathan V, Weisman DS, et al. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature 2000; 405:477. Yang DQ, Kastan MB. Participation of ATM in insulin signalling through phosphorylation of eIF-4E-binding protein 1. Nat Cell Biol 2000; 2:893. Paroni G, Cernotta N, Dello Russo C, et al. PP2A regulates HDAC4 nuclear import. Mol Biol Cell 2008; 19:655. Li J, Chen J, Ricupero CL, et al. Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia. Nat Med 2012; 18:783. Kojis TL, Gatti RA, Sparkes RS. The cytogenetics of ataxia telangiectasia. Cancer Genet Cytogenet 1991; 56:143. Canman CE, Lim DS. The role of ATM in DNA damage responses and cancer. Oncogene 1998; 17:3301.

referencesuptodate· REFERENCES· item f22_60_23497

Li J, Chen J, Ricupero CL, et al. Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia. Nat Med 2012; 18:783. Kojis TL, Gatti RA, Sparkes RS. The cytogenetics of ataxia telangiectasia. Cancer Genet Cytogenet 1991; 56:143. Canman CE, Lim DS. The role of ATM in DNA damage responses and cancer. Oncogene 1998; 17:3301. Suzuki K, Kodama S, Watanabe M. Recruitment of ATM protein to double strand DNA irradiated with ionizing radiation. J Biol Chem 1999; 274:25571. Barlow C, Hirotsune S, Paylor R, et al. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 1996; 86:159. Borghesani PR, Alt FW, Bottaro A, et al. Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice. Proc Natl Acad Sci U S A 2000; 97:3336. Spring K, Ahangari F, Scott SP, et al. Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. Nat Genet 2002; 32:185. Eaton JS, Lin ZP, Sartorelli AC, et al. Ataxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis. J Clin Invest 2007; 117:2723. Wallace DC. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet 2005; 39:359. Valentin-Vega YA, Maclean KH, Tait-Mulder J, et al. Mitochondrial dysfunction in ataxia-telangiectasia. Blood 2012; 119:1490. Paula-Barbosa MM, Ruela C, Tavares MA, et al. Cerebellar cortex ultrastructure in ataxia-telangiectasia. Ann Neurol 1983; 13:297. Peterson RD, Cooper MD, Good RA. Lymphoid tissue abnormalities associated with ataxia-telangiectasia. Am J Med 1966; 41:342. Swift M, Morrell D, Cromartie E, et al. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 1986; 39:573. Woods CG, Taylor AM. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992; 82:169. Gatti R. Ataxia-telangiectasia. GeneReviews. www.ncbi.nlm.nih.gov/books/NBK26468/ (Accessed on May 18, 2012). Crawford TO. Ataxia telangiectasia. Semin Pediatr Neurol 1998; 5:287. Perlman SL, Boder Deceased E, Sedgewick RP, Gatti RA. Ataxia-telangiectasia. Handb Clin Neurol 2012; 103:307. Cabana MD, Crawford TO, Winkelstein JA, et al. Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics 1998; 102:98.

referencesuptodate· REFERENCES· item f22_60_23497

Gatti R. Ataxia-telangiectasia. GeneReviews. www.ncbi.nlm.nih.gov/books/NBK26468/ (Accessed on May 18, 2012). Crawford TO. Ataxia telangiectasia. Semin Pediatr Neurol 1998; 5:287. Perlman SL, Boder Deceased E, Sedgewick RP, Gatti RA. Ataxia-telangiectasia. Handb Clin Neurol 2012; 103:307. Cabana MD, Crawford TO, Winkelstein JA, et al. Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics 1998; 102:98. Lewis RF, Lederman HM, Crawford TO. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol 1999; 46:287. Baloh RW, Yee RD, Boder E. Eye movements in ataxia-telangiectasia. Neurology 1978; 28:1099. Lefton-Greif MA, Crawford TO, Winkelstein JA, et al. Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia. J Pediatr 2000; 136:225. Kwast O, Ignatowicz R. Progressive peripheral neuron degeneration in ataxia-telangiectasia: an electrophysiological study in children. Dev Med Child Neurol 1990; 32:800. Taylor MJ, Logan WJ. Multimodal electrophysiological assessment of ataxia telangiectasia. Can J Neurol Sci 1983; 10:261. Larnaout A, Belal S, Ben Hamida C, et al. Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: a clinicopathological observation in three siblings. J Neurol 1998; 245:231. Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, et al. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr 2004; 144:505. Bott L, Lebreton J, Thumerelle C, et al. Lung disease in ataxia-telangiectasia. Acta Paediatr 2007; 96:1021. McGrath-Morrow SA, Gower WA, Rothblum-Oviatt C, et al. Evaluation and management of pulmonary disease in ataxia-telangiectasia. Pediatr Pulmonol 2010; 45:847. Schroeder SA, Swift M, Sandoval C, Langston C. Interstitial lung disease in patients with ataxia-telangiectasia. Pediatr Pulmonol 2005; 39:537. Crawford TO, Mandir AS, Lefton-Greif MA, et al. Quantitative neurologic assessment of ataxia-telangiectasia. Neurology 2000; 54:1505. McGrath-Morrow S, Lefton-Greif M, Rosquist K, et al. Pulmonary function in adolescents with ataxia telangiectasia. Pediatr Pulmonol 2008; 43:59. Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 1986; 77:89. Olsen JH, Hahnemann JM, Børresen-Dale AL, et al. Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst 2001; 93:121.

referencesuptodate· REFERENCES· item f22_60_23497

McGrath-Morrow S, Lefton-Greif M, Rosquist K, et al. Pulmonary function in adolescents with ataxia telangiectasia. Pediatr Pulmonol 2008; 43:59. Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 1986; 77:89. Olsen JH, Hahnemann JM, Børresen-Dale AL, et al. Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst 2001; 93:121. Morgan JL, Holcomb TM, Morrissey RW. Radiation reaction in ataxia telangiectasia. Am J Dis Child 1968; 116:557. Iannuzzi CM, Atencio DP, Green S, et al. ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects. Int J Radiat Oncol Biol Phys 2002; 52:606. Ho AY, Fan G, Atencio DP, et al. Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy. Int J Radiat Oncol Biol Phys 2007; 69:677. Waldmann TA, McIntire KR. Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia. Lancet 1972; 2:1112. Waldmann TA, Broder S, Goldman CK, et al. Disorders of B cells and helper T cells in the pathogenesis of the immunoglobulin deficiency of patients with ataxia telangiectasia. J Clin Invest 1983; 71:282. Rivat-Peran L, Buriot D, Salier JP, et al. Immunoglobulins in ataxia-telangiectasia: evidence for IgG4 and IgA2 subclass deficiencies. Clin Immunol Immunopathol 1981; 20:99. Roifman CM, Gelfand EW. Heterogeneity of the immunological deficiency in ataxia-telangiectasia: absence of a clinical-pathological correlation. Kroc Found Ser 1985; 19:273. Sanal O, Ersoy F, Yel L, et al. Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia. J Clin Immunol 1999; 19:326. Sadighi Akha AA, Humphrey RL, Winkelstein JA, et al. Oligo-/monoclonal gammopathy and hypergammaglobulinemia in ataxia-telangiectasia. A study of 90 patients. Medicine (Baltimore) 1999; 78:370. Fiorilli M, Businco L, Pandolfi F, et al. Heterogeneity of immunological abnormalities in ataxia-telangiectasia. J Clin Immunol 1983; 3:135. Giovannetti A, Mazzetta F, Caprini E, et al. Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia. Blood 2002; 100:4082.

referencesuptodate· REFERENCES· item f22_60_23497

Fiorilli M, Businco L, Pandolfi F, et al. Heterogeneity of immunological abnormalities in ataxia-telangiectasia. J Clin Immunol 1983; 3:135. Giovannetti A, Mazzetta F, Caprini E, et al. Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia. Blood 2002; 100:4082. Cawley LP, Schenken JR. Monoclonal hypergammaglobulinemia of the gamma M type in a nine-year-old girl with ataxia-telangiectasia. Am J Clin Pathol 1970; 54:790. Taylor AM, Oxford JM, Metcalfe JA. Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia. Int J Cancer 1981; 27:311. McConville CM, Stankovic T, Byrd PJ, et al. Mutations associated with variant phenotypes in ataxia-telangiectasia. Am J Hum Genet 1996; 59:320. Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 2004; 3:1187. Dörk T, Bendix-Waltes R, Wegner RD, Stumm M. Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. Am J Med Genet A 2004; 126A:272. Alterman N, Fattal-Valevski A, Moyal L, et al. Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype. Am J Med Genet A 2007; 143A:1827. Verhagen MM, Abdo WF, Willemsen MA, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 2009; 73:430. Saunders-Pullman R, Raymond D, Stoessl AJ, et al. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 2012; 78:649. Su Y, Swift M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med 2000; 133:770. Olsen JH, Hahnemann JM, Børresen-Dale AL, et al. Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia. Br J Cancer 2005; 93:260. Renwick A, Thompson D, Seal S, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006; 38:873. Concannon P. ATM heterozygosity and cancer risk. Nat Genet 2002; 32:89. FitzGerald MG, Bean JM, Hegde SR, et al. Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet 1997; 15:307. Dörk T, Bendix R, Bremer M, et al. Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res 2001; 61:7608.

referencesuptodate· REFERENCES· item f22_60_23497

Concannon P. ATM heterozygosity and cancer risk. Nat Genet 2002; 32:89. FitzGerald MG, Bean JM, Hegde SR, et al. Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nat Genet 1997; 15:307. Dörk T, Bendix R, Bremer M, et al. Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. Cancer Res 2001; 61:7608. Gatti RA, Tward A, Concannon P. Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. Mol Genet Metab 1999; 68:419. Chenevix-Trench G, Spurdle AB, Gatei M, et al. Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 2002; 94:205. Teraoka SN, Malone KE, Doody DR, et al. Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history. Cancer 2001; 92:479. Stankovic T, Kidd AM, Sutcliffe A, et al. ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet 1998; 62:334. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999; 93:190. Wu JT, Book L, Sudar K. Serum alpha fetoprotein (AFP) levels in normal infants. Pediatr Res 1981; 15:50. Butch AW, Chun HH, Nahas SA, Gatti RA. Immunoassay to measure ataxia-telangiectasia mutated protein in cellular lysates. Clin Chem 2004; 50:2302. Chun HH, Sun X, Nahas SA, et al. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Mol Genet Metab 2003; 80:437. Maserati E, Ottolini A, Veggiotti P, et al. Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14. Clin Genet 1988; 34:283. Aicardi J, Barbosa C, Andermann E, et al. Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. Ann Neurol 1988; 24:497. Moreira MC, Barbot C, Tachi N, et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 2001; 29:189. Date H, Onodera O, Tanaka H, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 2001; 29:184.

referencesuptodate· REFERENCES· item f22_60_23497

Moreira MC, Barbot C, Tachi N, et al. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 2001; 29:189. Date H, Onodera O, Tanaka H, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 2001; 29:184. Shimazaki H, Takiyama Y, Sakoe K, et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology 2002; 59:590. Criscuolo C, Mancini P, Saccà F, et al. Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype. Neurology 2004; 63:2173. Musumeci O, Naini A, Slonim AE, et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 2001; 56:849. Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 2003; 60:1206. Quinzii CM, Kattah AG, Naini A, et al. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 2005; 64:539. Le Ber I, Dubourg O, Benoist JF, et al. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology 2007; 68:295. Németh AH, Bochukova E, Dunne E, et al. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet 2000; 67:1320. Moreira MC, Klur S, Watanabe M, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004; 36:225. Duquette A, Roddier K, McNabb-Baltar J, et al. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Ann Neurol 2005; 57:408. Anheim M, Fleury MC, Franques J, et al. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families. Arch Neurol 2008; 65:958. Anheim M, Monga B, Fleury M, et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 2009; 132:2688. 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; 99:577. Hernandez D, McConville CM, Stacey M, et al. A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. J Med Genet 1993; 30:135.

referencesuptodate· REFERENCES· item f22_60_23497

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; 99:577. Hernandez D, McConville CM, Stacey M, et al. A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. J Med Genet 1993; 30:135. Klein C, Wenning GK, Quinn NP, Marsden CD. Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord 1996; 11:217. Crawford TO, Skolasky RL, Fernandez R, et al. Survival probability in ataxia telangiectasia. Arch Dis Child 2006; 91:610. Zannolli R, Buoni S, Betti G, et al. A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. Mov Disord 2012; 27:1312. Broccoletti T, Del Giudice E, Cirillo E, et al. Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia. Eur J Neurol 2011; 18:564. Nissenkorn A, Hassin-Baer S, Lerman SF, et al. Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate. J Child Neurol 2013; 28:155. Topic 6233 Version 9.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.6- C21.56 Licensed to: AsanBook Dig. Med. Lib. | Support Tag: [0603-190.111.122.2-6B4A64F196-S244013.14]