Ataksi Telenjiektazi ve İlişkili Bozukluklar
Özet
Ataksi telenjiektazi, ATM genindeki mutasyon sonucu gelişen, otozomal resesif geçişli ve DNA tamir mekanizması bozukluğu ile karakterize nörodejeneratif bir hastalıktır. Klinik tablo; ilerleyici serebellar ataksi, okülokutanöz telenjiektaziler, tekrarlayan sinopulmoner enfeksiyonlar ve immün yetmezlik bulgularını içerir. Multisistem tutulumu nedeniyle prognozu kötüdür ve henüz küratif bir tedavisi bulunmamaktadır; yönetim, komorbiditelerin destekleyici tedavisine odaklanır.
Ataxia-telangiectasia is a neurodegenerative disorder characterized by an autosomal recessive mutation in the ATM gene, resulting in defective DNA repair mechanisms. Clinical presentation includes progressive cerebellar ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infections, and immunodeficiency. The disease carries a poor prognosis due to multisystem involvement, with no current curative treatment available, necessitating a management approach focused on supportive care for comorbidities.
Referanslar
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, Cromartie E, et al. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 1986; 39:573.
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.
Hoche F, Frankenberg E, Rambow J, et al. Cognitive phenotype in ataxia-telangiectasia. Pediatr Neurol 2014; 51:297.
Vinck A, Verhagen MM, Gerven Mv, et al. Cognitive and speech-language performance in children with ataxia telangiectasia. Dev Neurorehabil 2011; 14:315.
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.
Greenberger S, Berkun Y, Ben-Zeev B, et al. Dermatologic manifestations of ataxia-telangiectasia syndrome. J Am Acad Dermatol 2013; 68:932.
Cabana MD, Crawford TO, Winkelstein JA, et al. Consequences of the delayed diagnosis of ataxia-telangiectasia. Pediatrics 1998; 102:98.
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.
Crawford TO, Mandir AS, Lefton-Greif MA, et al. Quantitative neurologic assessment of ataxia-telangiectasia. Neurology 2000; 54:1505.
Morgan JL, Holcomb TM, Morrissey RW. Radiation reaction in ataxia telangiectasia. Am J Dis Child 1968; 116:557.
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.
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.
Wu JT, Book L, Sudar K. Serum alpha fetoprotein (AFP) levels in normal infants. Pediatr Res 1981; 15:50.
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.
Nissenkorn A, Hassin-Baer S, Lerman SF, et al. Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate. J Child Neurol 2013; 28:155.
Verhagen MM, Abdo WF, Willemsen MA, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 2009; 73:430.
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.
Nissenkorn A, Levy-Shraga Y, Banet-Levi Y, et al. Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. Pediatr Res 2016; 79:889.
Moin M, Aghamohammadi A, Kouhi A, et al. Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients. Pediatr Neurol 2007; 37:21.
Stewart E, Prayle AP, Tooke A, et al. Growth and nutrition in children with ataxia telangiectasia. Arch Dis Child 2016; 101:1137.
Gatti R, Perlman S. Ataxia-Telangiectasia. In: GeneReviews, Adam MP, Ardinger HH, Pagon RA, et al. (Eds), University of Washington, Seattle 2016. https://www.ncbi.nlm.nih.gov/books/NBK26468/ (Accessed on August 06, 2019).
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.
Méneret A, Ahmar-Beaugendre Y, Rieunier G, et al. The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. Neurology 2014; 83:1087.
