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Case Reports

A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia

ORCID Icon, ORCID Icon, , , &
Pages 206-211 | Received 03 Apr 2019, Accepted 22 Feb 2020, Published online: 16 Mar 2020

References

  • Alonazi NA, Hundallah KJ, Al Hashem AM, et al. A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing. Neurosciences (Riyadh). 2018; 23(2):162–164.
  • Levy A, Lang AE. Ataxia-telangiectasia: a review of movement disorders, clinical features, and genotype correlations. Mov Disord. 2018; 33(8):1238–1247.
  • Devaney R, Pasalodos S, Suri M, et al. Ataxia telangiectasia: presentation and diagnostic delay. Arch Dis Child. 2017; 102(4):328–330.
  • Necpál J, Zech M, Škorvánek M, et al. Ataxia telangiectasia gene mutation in isolated segmental dystonia without ataxia and telangiectasia. Mov Disord Clin Pract. 2018;5(1):89–91.
  • Nissenkorn A, Ben-Zeev B. Ataxia telangiectasia. Handb Clin Neurol. 2015;132:199–214.
  • Teive HA, Moro A, Moscovich M, et al. Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci. 2015;355(1-2):3–6.
  • Lavin MF. Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. Nat Rev Mol Cell Biol. 2008;9(10):759–769.
  • Choy KR, Watters DJ. Neurodegeneration in ataxia-telangiectasia: multiple roles of ATM kinase in cellular homeostasis. Dev Dyn. 2018;247(1):33–46.
  • Rothblum-Oviatt C, Wright J, Lefton-Greif MA, et al. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11(1):159.
  • Van Os NJH, Jansen AFM, Van Deuren M, et al. Ataxia-telangiectasia: immunodeficiency and survival. Clin Immunol. 2017;178:45–55.
  • Choi M, Kipps T, Kurzrock R. ATM mutations in cancer: therapeutic implications. Mol Cancer Ther. 2016;15(8):1781–1791.
  • Amirifar P, Ranjouri MR, Yazdani R, et al. Ataxia-telangiectasia: a review of clinical features and molecular pathology. Pediatr Allergy Immunol. 2019;30(3):277–288.
  • Hoche F, Seidel K, Theis M, et al. Neurodegeneration in ataxia telangiectasia: what is new? What is evident? Neuropediatrics. 2012;43(3):119–129.
  • Teive HAG, Camargo CHF, Munhoz RP. More than ataxia - Movement disorders in ataxia-telangiectasia. Parkinsonism Relat Disord. 2018;46:3–8.
  • Sedgwick RP, Boder E. Progressive ataxia in childhood with particular reference to ataxia-telangiectasia. Neurology. 1960;10(7):705–715.
  • Pearson TS. More than ataxia: hyperkinetic movement disorders in childhood autosomal recessive ataxia syndromes. Tremor Other Hyperkinet Mov (N Y). 2016;6:368
  • Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, et al. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr. 2004;144(4):505–511.
  • Suarez F, Mahlaoui N, Canioni D, et al. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. JCO. 2015;33(2):202–208.
  • Micol R, Ben Slama L, Suarez F, et al. Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol. 2011;128(2):382–389.e1.
  • Nissenkorn A, Levy-Shraga Y, Banet-Levi Y, et al. Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. Pediatr Res. 2016;79(6):889–894.
  • Gatti R, Perlman S, et al. Ataxia-telangiectasia. In: Pagon RA, Pagon RA, editors. GeneReviews(R). Seattle: University of Washington; 1993. p. 2019.
  • Stray-Pedersen A, Borresen-Dale AL, Paus E, et al. Alpha fetoprotein is increasing with age in ataxia-telangiectasia. Eur J Paediatr Neurol. 2007;11(6):375–380.
  • Sahama I, Sinclair K, Pannek K, et al. Radiological imaging in ataxia telangiectasia: a review. Cerebellum. 2014;13(4):521–530.
  • Chaudhary MW, Al-Baradie RS. Ataxia-telangiectasia: future prospects. Appl Clin Genet. 2014;7:159–167.
  • Van Os NJH, Haaxma CA, Van der Flier M, et al. Ataxia-telangiectasia: recommendations for multidisciplinary treatment. Dev Med Child Neurol. 2017;59(7):680–689.

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