Ataxia-telangiectasia

Handbook of Clinical Neurology

Volumn 103, Issue , 2012, Pages 307-332

  Perlman, Susan L ^a   Sedgewick, Robert P ^d   Gatti, Richard A ^a  

^a deceased), Elena   (United States)

^b deceased), Elena   (United States)

^c deceased), Elena   (United States)

^d UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79961139524     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-51892-7.00019-X     Document Type: Chapter

References (208)

1. Abadir R., Hakami N. Ataxia telangiectasia with cancer. An indication for reduced radiotherapy and chemotherapy doses. Br J Radiol 1983, 56:343-345.
2. Agamanolis D.P., Greenstein J.I. Ataxia-telangiectasia. Report of a case with Lewy bodies and vascular abnormalities within cerebral tissue. J Neuropathol Exp Neurol 1979, 38:475-489.
3. Aghamohammadi A., Farhoudi A., Nikzad M., et al. Adverse reactions of prophylactic intravenous immunoglobulin infusions in Iranian patients with primary immunodeficiency. Ann Allergy Asthma Immunol 2004, 92:60-64.
4. Aguilar M.J., Kamoshita S., Landing B.H., et al. Pathological observations in ataxia-telangiectasia. A report of five cases. J Neuropathol Exp Neurol 1968, 27:659-676.
5. Ammann A.J., Wara D.W., Doyle N.E., et al. Thymus transplantation in patients with thymic hypoplasia and abnormal immunoglobulin synthesis. Transplantation 1975, 20:457-466.
6. Amromin G.D., Boder E., Teplitz R. Ataxia-telangiectasia with a 32 year survival. A clinicopathological report. J Neuropathol Exp Neurol 1979, 38:621-643.
7. Ariumi Y., Trono D. Ataxia-telangiectasia-mutated (ATM) protein can enhance human immunodeficiency virus type 1 replication by stimulating. Rev function J Virol 2006, 80:2445-2452.
8. Artuch R., Aracil A., Mas A., et al. Friedreich's ataxia: idebenone treatment in early stage patients. Neuropediatrics 2002, 33:190-193.
9. Babaei M., Mitui M., Olson E.R., et al. ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype. Hum Genet 2005, 117:101-106.
10. Bagley J., Cortes M.L., Breakefield X.O., et al. Bone marrow transplantation restores immune system function and prevents lymphoma in Atm-deficient mice. Blood 2004, 104:572-578.
11. Bakhshi S., Cerosaletti K.M., Concannon P., et al. Medulloblastoma with adverse reaction to radiation therapy in Nijmegen breakage syndrome. J Pediatr Hematol Oncol 2003, 25:248-251.
12. Ball L.G., Xiao W. Molecular basis of ataxia telangiectasia and related diseases. Acta Pharmacol Sin 2005, 26:897-907.
13. Baloh R.W., Yee R.D., Boder E. Eye movements in ataxia-telangiectasia. Neurology 1978, 28:1099-1104.
14. Barbieri F., Santoro L., Crisci C., et al. Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's ataxia? Morphometric and ultrastructural study of the sural nerve in a case of Louis Bar syndrome. Acta Neuropathol (Berl) 1986, 69:213-219.
15. Barlow C., Hirotsune S., Paylor R., et al. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 1996, 86:159-171.
16. Barzilai A., Rotman G., Shiloh Y. ATM deficiency and oxidative stress: a new dimension of defective response to DNA damage. DNA Repair (Amst) 2002, 1:3-25.
17. Bastian A.J. Mechanisms of ataxia. Phys Ther 1997, 77:672-675.
18. Battistella P.A., Argentiero V., Bizzarini M., et al. Long-term trial of levamisole on ataxia-telangiectasia: effect on the immunological and clinical parameters. Acta Neurol (Napoli) 1984, 6:290-299.
19. Becker-Catania S.G., Chen G., Hwang M.J., et al. Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Mol Genet Metab 2000, 70:122-133.
20. Berkel A.I., Ersoy F., Epstein L.B., et al. Transfer factor therapy in ataxia - telangiectasia. Clin Exp Immunol 1977, 29:376-384.
21. Bernstein J.L., Bernstein L., Thompson W.D., et al. ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer. Br J Cancer 2003, 89:1513-1516.
22. Bernstein J.L., Teraoka S., Southey M.C., et al. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. Hum Mutat 2006, 27:1122-1128.
23. Biemond A. Acute ataxia in children. Ned Tijdschr Geneeskd 1957, 101:529-532.
24. Birrell G.W., Kneebone K., Nefedov M., et al. ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia. Hum Mutat 2005, 25:593.
25. Boder E., Sedgewick R.P. Ataxia-telangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy, and a case history. USC Med Bull 1957, 9:15-28.
26. Boder E., Sedgewick R.P. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 1958, 21:526-554.
27. Bordigoni P., Faure G., Bene M.C., et al. Improvement of cellular immunity and iga production in immunodeficient children after treatment with synthetic serum thymic factor (FTS). Lancet 1982, 2:293-297.
28. Botez M.I., Botez-Marquard T., Elie R., et al. Amantadine hydrochloride treatment in heredodegenerative ataxias: a double blind study. J Neurol Neurosurg Psychiatry 1996, 61:259-264.
29. Browne S.E., Roberts L.J., Dennery P.A., et al. Treatment with a catalytic antioxidant corrects the neurobehavioral defect in ataxia-telangiectasia mice. Free Radic Biol Med 2004, 36:938-942.
30. Buckley R.H. Bone marrow and thymus transplantation in ataxia-telangiectasia. Birth Defects Orig Artic Ser 1975, 11:421-424.
31. Buoni S., Zannolli R., Sorrentino L., et al. Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia. Arch Neurol 2006, 63:1479-1482.
32. Campbell C., Mitui M., Eng L., et al. ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. Hum Mutat 2003, 21:80-85.
33. Casaril M., Gabrielli G.B., Capra F., et al. [Ataxia telangiectasia. Description of a case with multiple cerebral hemorrhages and liver cirrhosis]. Minerva Med 1982, 73:2183-2188.
34. Cavalieri S., Funaro A., Porcedda P., et al. ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions. Hum Mutat 2006, 27:1061.
35. Cerosaletti K.M., Lange E., Stringham H.M., et al. Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. Am J Hum Genet 1998, 63:125-134.
36. Chenevix-Trench G., Spurdle A.B., Gatei M., et al. Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 2002, 94:205-215.
37. Chun H.H., Gatti R.A. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 2004, 3:1187-1196.
38. Chun H.H., Sun X., Nahas S.A., et al. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Mol Genet Metab 2003, 80:437-443.
39. Concannon P. ATM heterozygosity and cancer risk. Nat Genet 2002, 32:89-90.
40. Concannon P., Gatti R.A. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat 1997, 10:100-107.
41. Coutinho G., Mitui M., Campbell C., et al. Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. Am J Med Genet A 2004, 126:33-40.
42. Coutinho G., Xie J., Du L., et al. Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a. Hum Mutat 2005, 25:118-124.
43. Crawford T.O., Mandir A.S., Lefton-Greif M.A., et al. Quantitative neurologic assessment of ataxia-telangiectasia. Neurology 2000, 54:1505-1509.
44. Crawford T.O., Skolasky R.L., Fernandez R., et al. Survival probability in ataxia telangiectasia. Arch Dis Child 2006, 91:610-611.
45. Curry C.J., O'Lague P., Tsai J., et al. Atfresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Am J Hum Genet 1989, 45:270-275.
46. D'Ambrosio R., Leone M., Rosso M.G., et al. Disability and quality of life in hereditary ataxias: a self-administered postal questionnaire. Int Disabil Stud 1987, 9:10-14.
47. Daniel R., Pomerantz R.J. ATM: HIV-1's Achilles heel?. Nat Cell Biol 2005, 7:452-453.
48. 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, 29:184-188.
49. de Graaf A.S., de Jong G., Kleijer W.J. An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant. Clin Neurol Neurosurg 1995, 97:1-7.
50. 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, 13:2155-2163.
51. Dork 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, 61:7608-7615.
52. Du L., Pollard J., Gatti R.A. Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proc Natl Acad Sci U S A 2007, 104:6007-6012.
53. Dunn H.G. Nerve conduction studies in children with Friedreich's ataxia and ataxia-telangiectasia. Dev Med Child Neurol 1973, 15:324-337.
54. Edwards M.J., Hargreaves I.P., Heales S.J., et al. N-acetylcysteine and Unverricht-Lundborg disease: variable response and possible side effects. Neurology 2002, 59:1447-1449.
55. Eilam R., Peter Y., Groner Y., et al. Late degeneration of nigro-striatal neurons in ATM-/- mice. Neuroscience 2003, 121:83-98.
56. El-Obeid A., Al-Harbi S., Al-Jomah N., et al. Herbal melanin modulates tumor necrosis factor alpha (TNF-alpha), interleukin 6 (IL-6) and vascular endothelial growth factor (VEGF) production. Phytomedicine 2006, 13:324-333.
57. Eng L., Coutinho G., Nahas S., et al. Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: maximum entropy estimates of splice junction strengths. Hum Mutat 2004, 23:67-76.
58. Eyre J.A., Gardner-Medwin D., Summerfield G.P. Leukoencephalopathy after prophylactic radiation for leukaemia in ataxia telangiectasia. Arch Dis Child 1988, 63:1079-1080.
59. Faulkner M.A., Bertoni J.M., Lenz T.L. Gabapentin for the treatment of tremor. Ann Pharmacother 2003, 37:282-286.
60. Feigin R.D., Vietti T.J., Wyatt R.G., et al. Ataxia telangiectasia with granulocytopenia. J Pediatr 1970, 77:431-438.
61. Flood M.K., Perlman S.L. The mental status of patients with Friedreich's ataxia. J Neurosci Nurs 1987, 19:251-255.
62. Foroud T., Wei S., Ziv Y., et al. Localization of an ataxia-telangiectasia locus to a 3-cm interval on chromosome 11q23: linkage analysis of 111 families by an international consortium. Am J Hum Genet 1991, 49:1263-1279.
63. Gardner M.B., Goodman W.N. Ataxia-telangiectasia. Electron microscopic study of a nerve biopsy. Bull Los Angeles Neurol Soc 1969, 34:23-38.
64. Gatei M., Shkedy D., Khanna K.K., et al. Ataxia-telangiectasia: chronic activation of damage-responsive functions is reduced by alpha-lipoic acid. Oncogene 2001, 20:289-294.
65. Gatti R., Boder E., Good R.A. Immunodeficiency, radiosensitivity and the XCIND syndrome. Immunol Res 2007, 38:87-101.
66. Gatti R.A. The inherited basis of human radiosensitivity. Acta Oncol 2001, 40:702-711.
67. Gatti R.A., Good R.A. The immunological deficiency diseases. Med Clin North Am 1970, 54:281-307.
68. Gatti R.A., Good R.A. Occurrence of malignancy in immunodeficiency diseases. A literature review. Cancer 1971, 28:89-98.
69. Gatti R.A., Bick M., Tam C.F., et al. Ataxia-telangiectasia: a multiparameter analysis of eight families. Clin Immunol Immunopathol 1982, 23:501-516.
70. Gatti R.A., Berkel I., Boder E., et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988, 336:577-580.
71. Gatti R.A., Boder E., Vinters H.V., et al. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore) 1991, 70:99-117.
72. Gatti R.A., 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, 68:419-423.
73. Gennery A.R. Primary immunodeficiency syndromes associated with defective DNA double-strand break repair. Br Med Bull 2006, 77-78:71-85.
74. Gilad S., Chessa L., Khosravi R., et al. Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am J Hum Genet 1998, 62:551-561.
75. Goodman W.N., Cooper W.C., Kessler G.B., et al. Ataxia-telangiectasia. A report of two cases in siblings presenting a picture of progressive spinal muscular atrophy. Bull Los Angeles Neurol Soc 1969, 34:1-22.
76. Gotoff S.P., Amirmokri E., Liebner E.J. Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis. Am J Dis Child 1967, 114:617-625.
77. Gueven N., Luff J., Peng C., et al. Dramatic extension of tumor latency and correction of neurobehavioral phenotype in Atm-mutant mice with a nitroxide antioxidant. Free Radic Biol Med 2006, 41:992-1000.
78. Hart R.M., Kimler B.F., Evans R.G., et al. Radiotherapeutic management of medulloblastoma in a pediatric patient with ataxia telangiectasia. Int J Radiat Oncol Biol Phys 1987, 13:1237-1240.
79. Hegde S.S., Mammen M., Jasper J.R. Antimuscarinics for the treatment of overactive bladder: current options and emerging therapies. Curr Opin Investig Drugs 2004, 5:40-49.
80. Herndon C.D., Joseph D.B. Urinary incontinence. Pediatr Clin North Am 2006, 53:363-377. vi.
81. Hiel J.A., Weemaes C.M., Smeets D.F., et al. Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor. Mov Disord 1994, 9:460-462.
82. Huo Y.K., Wang Z., Hong J.H., et al. Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. Cancer Res 1994, 54:2544-2547.
83. Hyams S.W., Reisner S.H., Neumann E. The eye signs in ataxia-telangiectasia. Am J Ophthalmol 1966, 62:1118-1124.
84. Inskip H.M., Kinlen L.J., Taylor A.M., et al. Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia. Br J Cancer 1999, 79:1304-1307.
85. Izzo A.A., Ernst E. Interactions between herbal medicines and prescribed drugs: a systematic review. Drugs 2001, 61:2163-2175.
86. Jaspers N.G., Gatti R.A., Baan C., et al. Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients. Cytogenet Cell Genet 1988, 49:259-263.
87. Jaspers N.G., Taalman R.D., Baan C. Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia. Am J Hum Genet 1988, 42:66-73.
88. Jaspers N.G.J., Painter R.B., Paterson M.C., et al. Complementation analysis of ataxia telangiectasia. Neuropathology and Immunology of a Degenerative Disease of Childhood 1985, 147-162. Alan R. Liss, New York. R.A. Gatti, M. Swift (Eds.).
89. Jauslin M.L., Wirth T., Meier T., et al. A cellular model for Friedreich ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy. Hum Mol Genet 2002, 11:3055-3063.
90. Jobst U. Posturographic biofeedback training in equilibrium disorders. Fortschr Neurol Psychiatr 1989, 57:74-80.
91. Kastan M.B., Bartek J. Cell-cycle checkpoints and cancer. Nature 2004, 432:316-323.
92. Keegan K.S., Holtzman D.A., Plug A.W., et al. The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes. Genes Dev 1996, 10:2423-2437.
93. Kitagawa R., Kastan M.B. The ATM-dependent DNA damage signaling pathway. Cold Spring Harb Symp Quant Biol 2005, 70:99-109.
94. Koch S.J., Arego D.E., Bowser B. Outpatient rehabilitation for chronic neuromuscular diseases. Am J Phys Med 1986, 65:245-257.
95. Koepp M., Schelosky L., Cordes I., et al. Dystonia in ataxia telangiectasia: report of a case with putaminal lesions and decreased striatal [123I]iodobenzamide binding. Mov Disord 1994, 9:455-459.
96. Lai C.H., Chun H.H., Nahas S.A., et al. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci U S A 2004, 101:15676-15681.
97. Lange E., Gatti R.A., Sobel E., et al. How many ataxia-telangiectasia genes?. Ataxia-telangiectasia 1993, 37-54. Springer-Verlag, Berlin. R.A. Gatti, R.B. Painter (Eds.).
98. Lange E., Borresen A.L., Chen X., et al. Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. Am J Hum Genet 1995, 57:112-119.
99. Lau A., Swinbank K.M., Ahmed P.S., et al. Suppression of HIV-1 infection by a small molecule inhibitor of the ATM kinase. Nat Cell Biol 2005, 7:493-500.
100. Lefton-Greif M.A., Crawford T.O., Winkelstein J.A., et al. Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia. J Pediatr 2000, 136:225-231.
101. Levendoglu O., Berkel A.I., Ersoy F., et al. Levamisole therapy in ataxia-telangiectasia. Turk J Pediatr 1981, 23:255-259.
102. Lewis R.F., Lederman H.M., Crawford T.O. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol 1999, 46:287-295.
103. Liou C.J., Li M.L., Tseng J. Intraperitoneal injection of ginseng extract enhances both immunoglobulin and cytokine production in mice. Am J Chin Med 2004, 32:75-88.
104. Llorca O., Rivera-Calzada A., Grantham J., et al. Electron microscopy and 3D reconstructions reveal that human ATM kinase uses an arm-like domain to clamp around double-stranded DNA. Oncogene 2003, 22:3867-3874.
105. Lopukhin Y., Morosov Y., Petrov R. Transplantation of neonate thymus-sternum complex in ataxia-teleangiectasia. Transplant Proc 1973, 5:823-827.
106. Louis-Bar D. Sur un syndrome progressif cormprenant des télangiectasies capillaires cutanées et conjonctivales symétriques, à disposition naevoïde et des troubles cérébelleux. Confin Neurol 1941, 4:32-42.
107. Lu S., Shen K.C., Wang Y., et al. Impaired hepatocyte survival and liver regeneration in Atm-deficient mice. Hum Mol Genet 2005, 14:3019-3025.
108. Makis A., Polychronopoulou S., Haidas S. Osteosarcoma as a second tumor after treatment for primary non-Hodgkin's lymphoma in a child with ataxia-telangiectasia: presentation of a case and review of possible pathogenetic mechanisms. J Pediatr Hematol Oncol 2004, 26:444-446.
109. Mangiarotti P., Pizzini C., Fanos V. Antibiotic prophylaxis in children with relapsing urinary tract infections: review. J Chemother 2000, 12:115-123.
110. Marcelain K., Navarrete C.L., Bravo M., et al. Effect of vitamin E (DL-alpha-tocopherol) on the frequency of chromosomal damage in lymphocytes from patients with ataxia telangiectasia. Rev Med Chil 2002, 130:957-963.
111. Martinez A.C., Barrio M., Gutierrez A.M., et al. Abnormalities in sensory and mixed evoked potentials in ataxia-telangiectasia. J Neurol Neurosurg Psychiatry 1977, 40:44-49.
112. McConville C.M., Woods C.G., Farrall M., et al. Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage. Hum Genet 1990, 85:215-220.
113. McFarlin D.E., Strober W., Waldmann T.A. Ataxia-telangiectasia. Medicine (Baltimore) 1972, 51:281-314.
114. McVey J.H., Michaelides K., Hansen L.P., et al. A G->A substitution in an HNF I binding site in the human alpha-fetoprotein gene is associated with hereditary persistence of alpha-fetoprotein (HPAFP). Hum Mol Genet 1993, 2:379-384.
115. Metcalfe J.A., Parkhill J., Campbell L., et al. Accelerated telomere shortening in ataxia telangiectasia. Nat Genet 1996, 13:350-353.
116. Miller M.E., Chatten J. Ovarian changes in ataxia telangiectasia. Acta Paediatr Scand 1967, 56:559-561.
117. Mitui M., Campbell C., Coutinho G., et al. Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. Hum Mutat 2003, 22:43-50.
118. Mitui M., Bernatowska E., Pietrucha B., et al. ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. Ann Hum Genet 2005, 69:657-664.
119. Morales M., Theunissen J.W., Kim C.F., et al. The Rad50S allele promotes ATM-dependent DNA damage responses and suppresses ATM deficiency: implications for the Mre11 complex as a DNA damage sensor. Genes Dev 2005, 19:3043-3054.
120. Moreira M.C., Klur S., Watanabe M., et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004, 36:225-227.
121. Morgan J.L., Holcomb T.M., Morrissey R.W. Radiation reaction in ataxia telangiectasia. Am J Dis Child 1968, 116:557-558.
122. Morrell D., Chase C.L., Kupper L.L., et al. Diabetes mellitus in ataxia-telangiectasia, Fanconi anemia, xeroderma pigmentosum, common variable immune deficiency, and severe combined immune deficiency families. Diabetes 1986, 35:143-147.
123. Murphy R.C., Berdon W.E., Ruzal-Shapiro C., et al. Malignancies in pediatric patients with ataxia telangiectasia. Pediatr Radiol 1999, 29:225-230.
124. Nahas S.A., Lai C.H., Gatti R.A. Post-irradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathway. Int J Radiat Oncol Biol Phys 2005, 61:1167-1172.
125. Notermans N.C., van Dijk G.W., van der Graaf Y., et al. Measuring ataxia: quantification based on the standard neurological examination. J Neurol Neurosurg Psychiatry 1994, 57:22-26.
126. Nowak-Wegrzyn A., Crawford T.O., Winkelstein J.A., et al. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr 2004, 144:505-511.
127. Olsen J.H., Hahnemann J.M., Borresen-Dale A.L., et al. Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. J Natl Cancer Inst 2001, 93:121-127.
128. Oxelius V.A., Berkel A.I., Hanson L.A. Igg2 deficiency in ataxia-telangiectasia. N Engl J Med 1982, 306:515-517.
129. Pagani F., Buratti E., Stuani C., et al. A new type of mutation causes a splicing defect in ATM. Nat Genet 2002, 30:426-429.
130. Pan-Hammarstrom Q., Dai S., Zhao Y., et al. ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region. J Immunol 2003, 170:3707-3716.
131. Pan-Hammarstrom Q., Jones A.M., Lahdesmaki A., et al. Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells. J Exp Med 2005, 201:189-194.
132. Pan-Hammarstrom Q., Wen S., Hammarstrom L. Cytokine gene expression profiles in human lymphocytes induced by a formula of traditional Chinese medicine, Vigconic VI-28. J Interferon Cytokine Res 2006, 26:628-636.
133. Pan Q., Petit-Frere C., Lahdesmaki A., et al. Alternative end joining during switch recombination in patients with ataxia-telangiectasia. Eur J Immunol 2002, 32:1300-1308.
134. Pashankar F., Singhal V., Akabogu I., et al. Intact T cell responses in ataxia telangiectasia. Clin Immunol 2006, 120:156-162.
135. Perlman S., Becker-Catania S., Gatti R.A. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol 2003, 10:173-182.
136. Perlman S.L., Kern R.I. Intensive physical therapy for chronic progressive neuromuscular disease (Abstract-VI International Congress on Neuromuscular Disease). Muscle Nerve 1986, 9:257.
137. Peterson R.D., Cooper M.D., Good R.A. Lymphoid tissue abnormalities associated with ataxia-telangiectasia. Am J Med 1966, 41:342-359.
138. Poinsignon C., de Chasseval R., Soubeyrand S., et al. Phosphorylation of Artemis following irradiation-induced DNA damage. Eur J Immunol 2004, 34:3146-3155.
139. Pritchard J., Sandland M.R., Breatnach F.B., et al. The effects of radiation therapy for Hodgkin's disease in a child with ataxia telangiectasia: a clinical, biological and pathologic study. Cancer 1982, 50:877-886.
140. Rasheed N., Wang X., Niu Q.T., et al. Atm-deficient mice: an osteoporosis model with defective osteoblast differentiation and increased osteoclastogenesis. Hum Mol Genet 2006, 15:1938-1948.
141. Reed W.B., Epstein W.L., Boder E., et al. Cutaneous manifestations of ataxia-telangiectasia. JAMA 1966, 195:746-753.
142. Reichel W., Garcia-Bunuel R. Pathologic findings in progeria: myocardial fibrosis and lipofuscin pigment. Am J Clin Pathol 1970, 53:243-253.
143. Reliene R., Schiestl R.H. Antioxidant N-acetyl cysteine reduces incidence and multiplicity of lymphoma in Atm deficient mice. DNA Repair (Amst) 2006, 5:852-859.
144. Reliene R., Schiestl R.H. Antioxidants suppress lymphoma and increase longevity in atm-deficient mice. J Nutr 2007, 137:229S-232S.
145. Reliene R., Fischer E., Schiestl R.H. Effect of N-acetyl cysteine on oxidative DNA damage and the frequency of DNA deletions in atm-deficient mice. Cancer Res 2004, 64:5148-5153.
146. Renwick A., Thompson D., Seal S., et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 2006, 38:873-875.
147. Rivat-Peran L., Buriot D., Salier J.P., et al. Immunoglobulins in ataxia-telangiectasia: evidence for igg4 and iga2 subclass deficiencies. Clin Immunol Immunopathol 1981, 20:99-110.
148. Rivero-Carmena M., Porras O., Pelaez B., et al. Membrane and transmembrane signaling in Herpesvirus saimiri-transformed human CD4(+) and CD8(+) T lymphocytes is ATM-independent. Int Immunol 2000, 12:927-935.
149. Roifman C.M., Gelfand E.W. Heterogeneity of the immunological deficiency in ataxia-telangiectasia: absence of a clinical-pathological correlation. Kroc Found Ser 1985, 19:273-285.
150. Rosenberg R.N. Alternative neurology. Arch Neurol 1998, 55:1394-1395.
151. Saar K., Chrzanowska K.H., Stumm M., et al. The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cm interval on chromosome 8q21. Am J Hum Genet 1997, 60:605-610.
152. Sanal O., Ersoy F., Yel L., et al. Impaired igg antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia. J Clin Immunol 1999, 19:326-334.
153. Sanal O., Ersoy F., Tezcan I., et al. Antibody response to a seven-valent pneumococcal conjugated vaccine in patients with ataxia-telangiectasia. J Clin Immunol 2004, 24:411-417.
154. Saviozzi S., Saluto A., Taylor A.M., et al. A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insa. J Med Genet 2002, 39:57-61.
155. Savitsky K., Bar-Shira A., Gilad S., et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995, 268:1749-1753.
156. Savitsky K., Sfez S., Tagle D.A., et al. The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Hum Mol Genet 1995, 4:2025-2032.
157. Sazani P., Kole R. Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing. J Clin Invest 2003, 112:481-486.
158. Schalch D.S., McFarlin D.E., Barlow M.H. An unusual form of diabetes mellitus in ataxia telangiectasia. N Engl J Med 1970, 282:1396-1402.
159. Schmahmann J.D., Sherman J.C. The cerebellar cognitive affective syndrome. Brain 1998, 121:561-579.
160. Schouten J.P., McElgunn C.J., Waaijer R., et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30:e57.
161. Schubert R., Erker L., Barlow C., et al. Cancer chemoprevention by the antioxidant tempol in Atm-deficient mice. Hum Mol Genet 2004, 13:1793-1802.
162. Scott S.P., Bendix R., Chen P., et al. Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc Natl Acad Sci U S A 2002, 99:925-930.
163. Sedgewick R.P., Boder E. Ataxia-telangiectasia. Handbook of Clinical Neurology 1991, Vol. 16:347-423. Elsevier Science, Amsterdam.
164. Seliger G.M., Hornstein A. Serotonin, fluoxetine, and pseudobulbar affect. Neurology 1989, 39:1400.
165. Shackelford R.E., Manuszak R.P., Johnson C.D., et al. Desferrioxamine treatment increases the genomic stability of ataxia-telangiectasia cells. DNA Repair (Amst) 2003, 2:971-981.
166. Shiloh Y., Lehmann A.R. Maintaining integrity. Nat Cell Biol 2004, 6:923-928.
167. Shiloh Y., Andegeko Y., Tsarfaty I. In search of drug treatment for genetic defects in the DNA damage response: the example of ataxia-telangiectasia. Semin Cancer Biol 2004, 14:295-305.
168. Smith J.L., Cogan D.G. Ataxia-telangiectasia. Arch Ophthalmol 1959, 62:364-369.
169. Solitare G.B., Lopez V.F. Louis-bar's syndrome (ataxia-telangiectasia). Neuropathologic observations. Neurology 1967, 17:23-31.
170. Sommer S.S., Jiang Z., Feng J., et al. ATM missense mutations are frequent in patients with breast cancer. Cancer Genet Cytogenet 2003, 145:115-120.
171. Spellman K., Burns J., Nichols D., et al. Modulation of cytokine expression by traditional medicines: a review of herbal immunomodulators. Altern Med Rev 2006, 11:128-150.
172. Stankovic T., Kidd A.M., 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, 62:334-345.
173. Stewart G.S., Maser R.S., Stankovic T., et al. The DNA double-strand break repair gene hmre11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 1999, 99:577-587.
174. Stewart G.S., Last J.I., Stankovic T., et al. Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T->G mutations, showing a less severe phenotype. J Biol Chem 2001, 276:30133-30141.
175. Stray-Pedersen A., Aaberge I.S., Fruh A., et al. Pneumococcal conjugate vaccine followed by pneumococcal polysaccharide vaccine; immunogenicity in patients with ataxia-telangiectasia. Clin Exp Immunol 2005, 140:507-516.
176. Stumm M., Gatti R.A., Reis A., et al. The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1. Am J Hum Genet 1995, 57:960-962.
177. Sun X., Becker-Catania S.G., Chun H.H., et al. Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. J Pediatr 2002, 140:724-731.
178. Swift M. Genetics and epidemiology of ataxia-telangiectasia. Kroc Found Ser 1985, 19:133-146.
179. Swift M., Chase C.L., Morrell D. Cancer predisposition of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 1990, 46:21-27.
180. Swift M., Morrell D., Massey R.B., et al. Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med 1991, 325:1831-1836.
181. Syllaba L., Henner K. Contribution à l'étude de l'indépendance de l'athétose double idiopathique et congénitale. Atteinte familiale, syndrome dystrophique, signe du résau vasculaire conjonctival, intégrité psychique. Rev Neurol (Paris) 1926, 1:541-560.
182. Talvensaari K., Clave E., Douay C., et al. A broad T-cell repertoire diversity and an efficient thymic function indicate a favorable long-term immune reconstitution after cord blood stem cell transplantation. Blood 2002, 99:1458-1464.
183. Tavani F., Zimmerman R.A., Berry G.T., et al. Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology 2003, 45:315-319.
184. Taylor A.M., Harnden D.G., Arlett C.F., et al. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature 1975, 258:427-429.
185. Taylor M.J., Chan-Lui W.Y., Logan W.J. Longitudinal evoked potential studies in hereditary ataxias. Can J Neurol Sci 1985, 12:100-105.
186. Telatar M., Teraoka S., Wang Z., et al. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Am J Hum Genet 1998, 62:86-97.
187. Telatar M., Wang S., Castellvi-Bel S., et al. A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia. Mol Genet Metab 1998, 64:36-43.
188. Thieffry S., Arthuis M., Aicardi J., et al. [Ataxiatelangiectasis. (7 personal cases)]. Rev Neurol (Paris) 1961, 105:390-405.
189. Thompson D., Antoniou A.C., Jenkins M., et al. Two ATM variants and breast cancer risk. Hum Mutat 2005, 25:594-595.
190. Toledano S.R., Lange B.J. Ataxia-telangiectasia and acute lymphoblastic leukemia. Cancer 1980, 45:1675-1678.
191. Touraine J.L., Roncarolo M.G., Royo C., et al. Fetal tissue transplantation, bone marrow transplantation and prospective gene therapy in severe immunodeficiencies and enzyme deficiencies. Thymus 1987, 10:75-87.
192. Trouillas P., Xie J., Adeleine P., et al. Buspirone, a 5-hydroxytryptamine1a agonist, is active in cerebellar ataxia. Results of a double-blind drug placebo study in patients with cerebellar cortical atrophy. Arch Neurol 1997, 54:749-752.
193. Uhrhammer N., Lange E., Porras O., et al. Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families. Am J Hum Genet 1995, 57:103-111.
194. Uziel T., Lerenthal Y., Moyal L., et al. Requirement of the MRN complex for ATM activation by DNA damage. EMBO J 2003, 22:5612-5621.
195. Varon R., Vissinga C., Platzer M., et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998, 93:467-476.
196. Vinters H.V., Gatti R.A., Rakic R. Sequence of cellular events in cerebellar ontogeny relevant to expression of neuronal abnormalities in ataxia-telangiectasia. Ataxia-Telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood 1985, 233-255. Alan R. Liss, New York. R.A. Gatti, M. Swift (Eds.).
197. Vorechovsky I., Rasio D., Luo L., et al. The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation. Cancer Res 1996, 56:2726-2732.
198. Wara D.W., Ammann A.J. Thymosin treatment of children with primary immunodeficiency disease. Transplant Proc 1978, 10:203-209.
199. Weemaes C.M., Hustinx T.W., Scheres J.M., et al. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 1981, 70:557-564.
200. Wells C.E., Shy G.M. Progressive familial choreoathetosis with cutaneous telangiectasia. J Neurol Neurosurg Psychiatry 1957, 20:98-104.
201. White R., Frank E. Health effects and prevalence of vegetarianism. West J Med 1994, 160:465-470.
202. Wilschanski M., Yahav Y., Yaacov Y., et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003, 349:1433-1441.
203. Woods C.G., Taylor A.M. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992, 82:169-179.
204. Wu V.C., Huang J.W., Lien H.C., et al. Levamisole-induced multifocal inflammatory leukoencephalopathy: clinical characteristics, outcome, and impact of treatment in 31 patients. Medicine (Baltimore) 2006, 85:203-213.
205. Yorek M.A., Dunlap J.A., Manzo-Fontes A., et al. Abnormal myo-inositol and phospholipid metabolism in cultured fibroblasts from patients with ataxia telangiectasia. Biochim Biophys Acta 1999, 1437:287-300.
206. Yuille M.A., Coignet L.J. The ataxia telangiectasia gene in familial and sporadic cancer. Recent Results Cancer Res 1998, 154:156-173.
207. Yuille M.A., Coignet L.J., Abraham S.M., et al. ATM is usually rearranged in T-cell prolymphocytic leukaemia. Oncogene 1998, 16:789-796.
208. Zwicky J.F., Hafner A.W., Barrett S. Reader's Guide to "Alternative" Health Methods 1993, American Medical Association, Chicago.