Resumen
Ataxia telangiectasia (A-T) is an autosomal recessive disease (OMIM #208900) with severe neurological involvement typically with cerebellar ataxia as the first presenting symptom. It is caused by a mutation in the ataxia telangiectasia mutated (ATM) gene that results in a protein that impairs the repair of damaged DNA. It does not depend on race or ethnicity, affecting males and females equally. However, consanguinity significantly increases its incidence. This is a descriptive observational study of case report type, its objective is to present three siblings with Ataxia Telangiectasia, a brief description of A-T and how these patients exemplify the presentation of A-T along different ages in the same family.
Citas
Rothblum-Oviatt, C., Wright, J., Lefton-Greif, M.A., McGrath-Morrow, S.A., Crawford, T.O., Lederman, H.M. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016, Nov.; 11(1): 159. https://doi.org/10.1186/s13023-016-0543-7
Amirifar, P., Ranjouri, M.R., Yazdani, R., Abolhassani, H., Aghamohammadi, A. Ataxia-telangiectasia: A review of clinical features and molecular pathology. Pediatric allergy and immunology: official publication of the European Society of Pediatric Allergy and Immunology. 2019, May ; 30(3): 277–288. https://doi.org/10.1111/pai.13020
Mitiagin, Y., Barzilai, A. Ataxia-telangiectasia mutated plays an important role in cerebellar integrity and functionality. Neural Regen Res. 2023, Mar.; 18(3): 497-502, DOI: 10.4103/1673-5374.350194
Amirifar, P., Reza ,R.R., Lavin, M., Abolhassani, H., Yazdani, R., Aghamohammadi, A. Ataxia-telangiectasia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management. Expert Rev Clin Immunol. 2020, Sep.; 16(9): 859-871, DOI: 10.1080/1744666X.2020.1810570
Petley, E., Yule, A., Alexander, S., Ojha, S., Whitehouse, W.P. The natural history of ataxia-telangiectasia (A-T): A systematic review. PLoS ONE. 2022, March; 17(3): e0264177. DOI: 10.1371/journal.pone.0264177
Tang, S.Y., Shaikh, A.G. Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia. Cerebellum. 2019, Jun.; 18(3): 556–564. DOI: 10.1007/s12311-018-0990-x
Kuo, S.H. Ataxia. Continuum. 2019, Aug.; 25(4): 1036–1054. DOI: 10.1212/CON.0000000000000753
van Os, N.J.H., Haaxma, C.A., van der Flier, M,. Merkus, P.J.F.M., van Deuren, M., de Groot, I.J.M., et al. Ataxia-telangiectasia: recommendations for multidisciplinary treatment. Dev Med Child Neurol. 2017, July; 59(7): 680-689. https://doi.org/10.1111/dmcn.13424
The Ataxia-Telegiectasia Society. Ataxia-Telangiectasia in Children : Guidance on Diagnosis and Clinical Care. 2014, Oct.; 30 pag. https://atsociety.org.uk/wp-content/uploads/2017/10/A-T_Clinical_Guidance_Document_Final.pdf.
Tiet, M.Y., Horvath, R., Hensiek, A.E. Ataxia telangiectasia: what the neurologist needs to know. Practical Neurology. 2020, Oct.; 20(5): 404-414. DOI: 10.1136/practneurol-2019-002253
Teive, H.A., Moro, A., Moscovich, M., Arruda, W.O., Munhoz, R.P., Raskin, S. et al. Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci. 2015, Aug.; 355(1-2): 3–6. DOI: 10.1016/j.jns.2015.05.022
Neves Barreto, T.L., Rocha Raslan,I., Kakiuchi Trajano, K., Aparecida Maggi, F., Pedroso, J.L., Povoas Barsottini, O. G. Correlation between neurological features, nutritional status, and metabolic changes in patients with Ataxia-telangiectasia. Expert Opinion on Orphan Drugs. 2021, May; 9(4): 133-137. DOI: 10.1080/21678707.2021.1927701
Sartori, S., Ulibarrie, A., De la Peña, A., Andreolli, M. Ataxia-Telangiectasia con inmundeficiencia. Dermatología Pediatrica Latinoamericana. 2018, Abril/Junio; 13(2): 52-65. https://docs.bvsalud.org/biblioref/2022/04/982658/dermatol-ped-latinoam-2018-v13-n2-ataxia.pdf
Copyright
License
Copyright (c) 2023 Anna Yurrita
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Authors who publish in this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution-NonCommercial-ShareAlike License 4.0 (CC BY-NC_SA 4.0) that indicates: a) It is allowed that others share the work, with an acknowledgement of the work's authorship and initial publication in this journal, b) The work may not be used for commercial purposes, c) If it's remixed, transformed, or built upon the material, one must distribute the contributions under the same license as the original
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository, website or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
