Ataxia-telangiectasia: Atypical presentation and toxicity of cancer treatment

Canadian Journal of Neurological Sciences

Volumn 36, Issue 4, 2009, Pages 462-467

  Yanofsky, Rochelle A ^a,i   Seshia, Sashi S ^c   Dawson, Angelika J ^a,b   Stobart, Kent ^a,d   Greenberg, Cheryl R ^a   Booth, Frances A ^a   Prasad, Chitra ^e   Del Bigio, Marc R ^b,f   Wrogemann, Jens ^b,g   Fike, Francesca ^h   Gatti, Richard A ^h  

^a UNIVERSITY OF MANITOBA   (Canada)

^b UNIVERSITY OF SASKATCHEWAN   (Canada)

^c UNIVERSITY OF SASKATCHEWAN   (Canada)

^d UNIVERSITY OF ALBERTA   (Canada)

^e UNIVERSITY OF WESTERN ONTARIO   (Canada)

^f Section of Pediatric Radiology ^*  (United States)

^g St John's Regional Medical Center   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ CANCERCARE MANITOBA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; GADOLINIUM; METHOTREXATE; VINCRISTINE;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; ATAXIA TELANGIECTASIA; CANCER ADJUVANT THERAPY; CANCER DIAGNOSIS; CANCER SURGERY; CASE REPORT; CEREBELLAR ATAXIA; CHILD; CLINICAL FEATURE; CONDUCTION DEAFNESS; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; DYSKINESIA; DYSTONIA; GROWTH HORMONE DEFICIENCY; HEMIPARESIS; HISTOPATHOLOGY; HUMAN; HYPOTHYROIDISM; LETHARGY; LEUKOENCEPHALOPATHY; MORTALITY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NEUROECTODERM TUMOR; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OUTCOME ASSESSMENT; PERIPHERAL NEUROPATHY; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SCOLIOSIS; SEIZURE; SKULL IRRADIATION; SLURRED SPEECH; VOMITING;

EID: 68349122462     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100007794     Document Type: Article

References (65)

1. Chun HH, Gatti RA. Ataxia telangiectasia, an evolving phenotype. DNA Repair. 2004;3:1187-96.
2. Regueiro JR, Porras O, Lavin M, Gatti RA. Ataxia-Telangiectasia. A primary immunodeficiency revisited. Immunol Allergy Clin N Am. 2000;20:177-206.
3. Spacey SD, Gatti RA, Bebb G. The molecular basis and clinical management of ataxia telangiectasia. Can J Neurol Sci. 2000; 27:184-91.
4. Crawford TO. Ataxia Telangiectasia. Sem Pediatr Neurol. 1998; 5:287-94.
5. Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, Lange K. Ataxia-Telangiectasia: an interdisciplinary approach to pathogenesis. Medicine. 1991;70:99-117.
6. Boder E. Ataxia-telangiectasia: an overview. In: Gatti RA, Swift A, editors. Ataxia-telangiectasia: genetics, neuropathology, and immunology of a degenerative disease of childhood. New York, NY: Alan R. Liss;1985. p. 1-63.
7. Gatti RA, Good RA. Occurrence of malignancy in immunodeficiency diseases. Cancer. 1971;28:89-98.
8. Boder E, Sedgwick RP. Ataxia-Telangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia, and frequent pulmonary infection. Pediatrics. 1958;21:526-54.
9. Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia telangiectasia. J Natl Cancer Inst. 1986;(77):89-92.
10. Taylor AMR, Metcalfe JA, Thick J, Mak Y-F. Leukemia and lymphoma in ataxia telangiectasia. Blood. 1996;87:423-38.
11. Gatti RA. Ataxia-telangiectasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic & molecular bases of inherited disease. 8th ed. New York, NY: McGraw-Hill; 2001. p. 705-21.
12. Cabana MD, Crawford TO, Winkelstein JA, Christensen JR, Lederman HMl. Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics. 1998;102:98-100.
13. Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, et al. Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am J Hum Genet. 1998;62:551-61.
14. Alterman N, Fattal-Valevski A, Moyal L, Crawford TO, Lederman HM, Ziv Y, et al. Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype. Am J Med Genet A. 2007;143:1827-34.
15. Crawford TO, Skolasky RL, Fernandez R, Rosquist KJ, Lederman HM. Survival probability in ataxia telangiectasia. Arch Dis Child. 2006;91:610-11.
16. Taylor AMR, Byrd PJ. Molecular pathology of ataxia telangiectasia. J Clin Pathol. 2005;58:1009-15.
17. Trimis GG, Athanassaki CK, Kanariou MM, Giannoulia-Karantana AA. Unusual absence of neurologic symptoms in a six-year old girl with ataxia- telangiectasia. J Postgrad Med. 2004; 50:270-1.
18. Taylor AMR, GroomA, Byrd PJ. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair. 2004;3:1219-25.
19. Sutton IJ, Last JIK, Ritchie SJ, Harrington HJ, Byrd PJ, Taylor AMR. Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. Ann Neurol. 2004;55:891-5.
20. Dork T, Bendix-Waltes R, Wegner R-D, Stumm M. Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. Am J Med Genet. 2004;126A:272-7.
21. Saviozzi S, Saluto A, Taylor AMR, Last JIL, Trebini F, Paradiso MC, et al. A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. J Med Genet. 2002;39:57-61.
22. Goyal V, Behari M. Dystonia as presenting manifestation of ataxia telangiectasia: a case report. Neurol India. 2002;50:187-9.
23. Crawford TO, Mandir AS, Lefton-Greif MA, Goodman SN, Goodman SN, Sengul H, et al. Quantitative neurologic assessment of ataxia-telangiectasia. Neurology. 2000;54: 1505-09.
24. Lavin MF, Concannon P, Gatti RA. Eighth international workshop on ataxia-telangiectasia (ATW8). Cancer Res. 1999;59:3845-9.
25. Larnaout A, Belal S, Ben Hamida C, Ben Hamida L, Hentatif F. Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: a clinicopathological observation in three siblings. J Neurol. 1998;245:231-5.
26. Klein C, Wenning GK, Quinn NP, Marsden CD. Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord. 1996;11:217-20.
27. McConville CM, Stankovic T, Byrd PJ, McGuire QYY, Lennox GG, Taylor MR. Mutations associated with variant phenotypes in ataxia-telangiectasia. Am J Hum Genet. 1996;59:320-30.
28. Bodensteiner JB, Goldblum RM, Goldman AS. Progressive dystonia masking ataxia in ataxia-telangiectasia. Arch Neurol. 1980;37:464-5.
29. Verhagen MM, van Alfen N, Pillen S, Weemaes CM, Yntema JL, Hiel JAP, et al. Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study. Neuropediatrics. 2007;38:117-21.
30. Willems PJ, Van Roy BC, Kleijer WJ, Van der Kraan M, Martin JJ. Atypical clinical presentation of ataxia telangiectasia. Am J Med Genet. 1993;45:777-82.
31. Wong V, Yu YL, Chan-Lui WY, Woo E, Yeung CY. Ataxia telangiectasia in Chinese children. A clinical and electrophysiological study. Clin Neurol Neurosurg. 1987;89:137-144.
32. Barbieri F, Santoro L, Crisci C, Massini R, Russo E, Campanella G. 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. 1986;69:213-19.
33. Lewis RF, Crawford TO. Slow target-directed eye movements in ataxia-telangiectasia. Invest Opthalmol Vis Sci (IVOS). 2002; 43:686-91.
34. Lewis RF, Lederman HM, Crawford TO. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol. 1999;46: 287-95.
35. Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P, et al. A. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Mol Genet Metab. 2003;80:437-3.
36. Orton NC, Innes AM, Chudley AE, Bech-Hansen NT. Unique disease heritage of the Dutch-German Mennonite population. Am J Med Genet. 2008;146A:1072-87.
37. Mitui A, Bernatowska E, Pietrucha B, Piotrowska-Jastrzebska J, Eng L, Nahas S, et. al. ATM gene founder haplotypes and associated mutations in Polish families with ataxiatelangiectasia. Ann Hum Genet. 2005;69:657-64.
38. Loeb DM, Lederman HM, Winkelstein JA. Lymphoid malignancy as a presenting sign of ataxia-telangiectasia. J Pediatr Hemat Oncol. 2000;22:464-7.
39. Gotoff SP, Amirmokri E, Liebner EJ. Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis. Am J Dis Child. 1967;114:617-25.
40. Abadir R, Hakami N. Ataxia telangiectasia with cancer. An indication for reduced radiotherapy and chemotherapy doses. Br J Radiol. 1983;56:343-5.
41. Hart RM, Kimler BF, Evans RG, Park CH. Radiotherapeutic management of medulloblastoma in a pediatric patient with ataxia telangiectasia. Int J Radiat Oncol Biol Phys. 1987;13: 1237-40.
42. Pritchard J, Sandland MR, Breatnach FB, Pincott JR, Cox R, Husband P. The effects of radiation therapy for Hodgkin's disease in a child with ataxia telangiectasia: a clinical, biological and pathological study. Cancer. 1982;50:877-86.
43. Toledano SR, Lange BJ. Ataxia-Telangiectasia and acute lymphoblastic leukemia. Cancer. 1980;45:1675-8.
44. Cunliffe PN, Mann JR, Cameron AH, Roberts KD. Radiosensitivity in ataxia-telangiectasia. Br J Radiol. 1975;48:374-6.
45. Morgan JL, Holcomb TM, Morrissey RW. Radiation reaction in ataxia telangiectasia. Amer J Dis Child. 1968;116:557-8.
46. Kersey JH, Spector BD, Good RA. Primary immunodeficiency diseases and cancer: the immunodeficiency-cancer registry. Int J Cancer. 1973;12:333-47.
47. Shuster J, Hart Z, Stimson CW, Brough AJ, Poulik MD. Ataxia Telangiectasia with cerebellar tumor. Pediatr. 1966;37:776-86.
48. Varan A, Büyükpamukçu M, Ersoy F, Sanal Ö, Akyüz C, Kutluk T, et al. Malignant solid tumors associated with congenital immunodeficiency disorders. Pediatr Hematol Oncol. 2004;21: 441-51.
49. Miyagi K, Mukawa J, Kinjo N, Horikawa K, Mekaru S, Nakasone S, et al. Astrocytoma linked to familial ataxia-telegiectasia. Acta Neurochir (Wien). 1995;135:87-92.
50. Groot-Loonen JJ, Slater R, Taminiau J, Voûte PA. Three consecutive primary malignancies in one patient during childhood. Pediatr Hematol Oncol. 1988;5:287-92.
51. Berkel AI, Ersoy F. Ataxia-telangiectasia and malignancies. Turk J Pediatr. 1974;26:82-9.
52. Masri AT, Bakri FG, Al-Hadidy AM, Musharbash AF, Al-Hussaini M. Ataxia-telangiectasia complicated by craniopharyngioma - a new observation. Pediatr Neurol. 2006;35:287-8.
53. Murphy RC, Berdon WE, Ruzal-Shapiro C, Hall EJ, Kornecki A, Daneman A, et al. Malignancies in pediatric patients with ataxiatelangiectasia. Pediatr Radiol. 1999;29:225-30.
54. Liberzon E, Avigad S, Cohen IJ, Yaniv I, Michovitz S, Zaizov R. ATM gene mutations are not involved in medulloblastoma in children. Cancer Genet Cytogenet. 2003;146:167-9.
55. Hader WJ, Drovini-Zis K, Maguire JA. Primitive neuroectodermal tumors in the central nervous system following cranial irradiation. Cancer. 2003;97:1072-6.
56. Eyre JA, Gardner-Medwin D, Summerfield GP. Leukoencephalopathy after prophylactic irradiation for leukemia in ataxia telangiectasia. Arch Dis Child. 1988;63:1079-93.
57. Lowery MC, Sinclair-Hess C, Carey JC, Brothman AR. Ataxia telangiectasia revitalized: the importance of cytogenetic analysis in the diagnosis of AT. Appl Cytogenet. 1994;20:49-51.
58. Kojis TL, Gatti RA, Sparkes RS. The cytogenetics of ataxiatelangiectasia. Cancer Genet Cytogenet. 1992;56:143-56.
59. Aurias A, Dutrillaux B, Buriot D, Lejeune J. High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia. Mutat Res. 1980;69:369-74.
60. Sun X, Becker-Catania SG, Chun HH, Hwang MJ, Huo Y, Wang Z, et al. Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. J Pediatr. 2002;140: 724-31.
61. Huo YK, Wang Z, Hong JH, Chessa L, McBride WH, Perlman SL, et al. Radiosensitivity of ataxia-telangiectasia, X-linked agamma-globulinemia, and related syndromes using a modified colony survival assay. Cancer Res. 1994;54:2544-7.
62. Perlman S, Becker-Catania S, Gatti RA. Ataxia-Telangiectasia: diagnosis and treatment. Sem Pediatr Neurol. 2003;10:173-82.
63. Mitui M, Nahas SA, Chun HH, Gatti RA. Diagnosis of ataxiatelangiectasia: ATM mutation associated with cancer. In: Nakamura RM, Grody WW, Wu JT, Nagle RB, editors. Cancer diagnostics: current and future trends. Totowa, NJ: Humana Press; 2004. p. 473-87.
64. Nahas SA, Butch AW, Du L, Gatti RA. Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes. Clin Chem. 2009;Jan 15. [Epub ahead of print].
65. Sandoval C, Swift M. Treatment of lymphoid malignancies in patients with ataxia-telangiectasia. Med Pediatr Oncol. 1998;31: 491-7.