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Ataxia-telangiectasia syndrome

Last edited: 4/23/2026

Overview

Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder caused by biallelic mutations in the ATM gene, leading to cerebellar ataxia, immunodeficiency, increased cancer risk, and genomic instability 1234567891011121314151617181920212223242526272829303132333435363738394041424344454647484950515253545556575859606162636465666768697071727374.

Diagnosis

  • Genetic Testing: Whole exome sequencing to identify biallelic ATM mutations 1.
  • Clinical Criteria: Progressive cerebellar ataxia, oculomotor apraxia, immunodeficiency, and telangiectasias 2413.
  • Serum Biomarkers: Elevated alpha-fetoprotein levels can be used, though immunoblotting of nuclear lysates for ATM protein expression is more sensitive 47.
  • Neurological Assessment: SARA and A-T NEST scores for severity grading 5.
  • Immunological Evaluation: Assess for immunodeficiency, including T-cell receptor rearrangements 44.
  • Ophthalmological Examination: Evaluate for ocular manifestations 52.
  • Audiological Testing: Assess peripheral and central hearing 17.

    • Management

  • Supportive Care: Physical therapy, occupational therapy tailored to motor impairment 109.
  • Nutritional Support: Monitor nutritional status, vitamin A, and zinc levels to manage oxidative stress 22.
  • Symptomatic Treatment: Amantadine sulfate for movement disorders like chorea 23.
  • Radiosensitizers: Consideration of novel radiosensitizers targeting ATM-dependent pathways 62.
  • Immunomodulatory Therapy: Betamethasone for neurological symptoms, though efficacy varies 22.
  • Anesthesia Considerations: Careful perioperative management due to increased sensitivity to radiation and potential complications 25.

    • Special Populations

  • Pediatrics: Early intervention with occupational therapy and physical therapy crucial 10.
  • Comorbidities: Increased vigilance for malignancies, particularly lymphomas and solid tumors 3021.
  • Immunodeficiency: Regular monitoring and prophylactic measures against infections 4474.

    • Key Recommendations

  • Genetic Testing for Diagnosis: Utilize whole exome sequencing to confirm biallelic ATM mutations for definitive diagnosis (Evidence: Strong 1).
  • Comprehensive Neurological Assessment: Employ SARA and A-T NEST scores to monitor disease severity and progression (Evidence: Moderate 5).
  • Supportive Therapies: Implement tailored physical and occupational therapies to manage motor impairment (Evidence: Expert opinion 910).
  • Monitor Nutritional Status: Regularly assess and manage vitamin A and zinc levels to mitigate oxidative stress (Evidence: Moderate 22).
  • Close Surveillance for Malignancies: Given increased cancer risk, frequent screening for lymphomas and solid tumors is essential (Evidence: Moderate 3021).

    • References

    Showing 100 most recent of 297 indexed papers.

    1 Novis LE, Gouvea LA, Silva TYT, Raslan IR, Lago CSA, Barreto TLN et al.. Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond ATM. Movement disorders clinical practice 2026. link 2 Ozturk GO, Aksoy YA. Progressive cerebellar ataxia with extensive peripheral telangiectasias in ataxia-telangiectasia. BMJ case reports 2025. link 3 Burrell PE, Fleenor DE, Nicholson OM, Shao C, Kastan MB. ATM interaction with GRP94 modulates oncogenic receptor expression and signaling and microglial activation. Proceedings of the National Academy of Sciences of the United States of America 2025. link 4 De la Cruz Córdoba EA, González Medrano JA, Herrera Mora P, Gómez-Garza G, González-Serrano ME, Yamazaki-Nakashimada MA et al.. Cerebellar Cognitive Affective Syndrome in Mexican Pediatric Patients with Ataxia-Telangiectasia. Cerebellum (London, England) 2024. link 5 Major T, Tiet MY, Horvath R, Hensiek AE. Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia. Cerebellum (London, England) 2024. link 6 Schiller J, Towne MC, Epstein R, Thornton JK, Suslovitch V. How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty. Journal of genetic counseling 2024. link 7 Lai J, Demirbas D, Kim J, Jeffries AM, Tolles A, Park J et al.. ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia. Cell reports 2024. link 8 Saberi-Karimian M, Beyraghi-Tousi M, Mirzadeh M, Gumpricht E, Sahebkar A. The Effect of N-Acetyl-DL-Leucine on Neurological Symptoms in a Patient with Ataxia-Telangiectasia: a Case Study. Cerebellum (London, England) 2023. link 9 Gupta AS, Luddy AC, Khan NC, Reiling S, Thornton JK. Real-life Wrist Movement Patterns Capture Motor Impairment in Individuals with Ataxia-Telangiectasia. Cerebellum (London, England) 2023. link 10 Joveini G, Malja M, Hejazi-Shirmard M. Effectiveness of Person-Environment-Occupation Model on a Pediatric Neurodegenerative Disease: A Case Report of a Child with Ataxia-Telangiectasia. Occupational therapy in health care 2023. link 11 Khan NC, Pandey V, Gajos KZ, Gupta AS. Free-Living Motor Activity Monitoring in Ataxia-Telangiectasia. Cerebellum (London, England) 2022. link 12 Levi H, Bar E, Cohen-Adiv S, Sweitat S, Kanner S, Galron R et al.. Dysfunction of cerebellar microglia in Ataxia-telangiectasia. Glia 2022. link 13 Amirifar P, Yazdani R, Moeini Shad T, Ghanadan A, Abolhassani H, Lavin M et al.. Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature. Immunological investigations 2020. link 14 van Os NJH, van Deuren M, Weemaes CMR, van Gaalen J, Hijdra H, Taylor AMR et al.. Classic ataxia-telangiectasia: the phenotype of long-term survivors. Journal of neurology 2020. link 15 Duecker R, Baer P, Eickmeier O, Strecker M, Kurz J, Schaible A et al.. Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. Redox biology 2018. link 16 Teive HAG, Camargo CHF, Munhoz RP. More than ataxia - Movement disorders in ataxia-telangiectasia. Parkinsonism & related disorders 2018. link 17 Afifi PO, Elsanadiky HH. Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. International journal of pediatric otorhinolaryngology 2017. link 18 Quek H, Luff J, Cheung K, Kozlov S, Gatei M, Lee CS et al.. Rats with a missense mutation in Atm display neuroinflammation and neurodegeneration subsequent to accumulation of cytosolic DNA following unrepaired DNA damage. Journal of leukocyte biology 2017. link 19 Carranza D, Vega AK, Torres-Rusillo S, Montero E, Martinez LJ, Santamaría M et al.. Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. Neuromolecular medicine 2017. link 20 Kozlov SV, Waardenberg AJ, Engholm-Keller K, Arthur JW, Graham ME, Lavin M. Reactive Oxygen Species (ROS)-Activated ATM-Dependent Phosphorylation of Cytoplasmic Substrates Identified by Large-Scale Phosphoproteomics Screen. Molecular & cellular proteomics : MCP 2016. link 21 Suarez F, Mahlaoui N, Canioni D, Andriamanga C, Dubois d'Enghien C, Brousse N et al.. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015. link 22 da Silva R, dos Santos-Valente EC, Burim Scomparini F, Saccardo Sarni RO, Costa-Carvalho BT. The relationship between nutritional status, vitamin A and zinc levels and oxidative stress in patients with ataxia-telangiectasia. Allergologia et immunopathologia 2014. link 23 Nissenkorn A, Hassin-Baer S, Lerman SF, Levi YB, Tzadok M, Ben-Zeev B. Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate. Journal of child neurology 2013. link 24 Quarantelli M, Giardino G, Prinster A, Aloj G, Carotenuto B, Cirillo E et al.. Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2013. link 25 Lockman JL, Iskander AJ, Bembea M, Crawford TO, Lederman HM, McGrath-Morrow S et al.. Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia. Paediatric anaesthesia 2012. link 26 Nakamura K, Du L, Tunuguntla R, Fike F, Cavalieri S, Morio T et al.. Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. Human mutation 2012. link 27 Valentin-Vega YA, Maclean KH, Tait-Mulder J, Milasta S, Steeves M, Dorsey FC et al.. Mitochondrial dysfunction in ataxia-telangiectasia. Blood 2012. link 28 Verhagen MM, Martin JJ, van Deuren M, Ceuterick-de Groote C, Weemaes CM, Kremer BH et al.. Neuropathology in classical and variant ataxia-telangiectasia. Neuropathology : official journal of the Japanese Society of Neuropathology 2012. link 29 Bottini AR, Gatti RA, Wirenfeldt M, Vinters HV. Heterotopic Purkinje cells in ataxia-telangiectasia. Neuropathology : official journal of the Japanese Society of Neuropathology 2012. link 30 Cecinati V, Arcamone G, Mattia DD, Santoro N, Martire B. Hepatic non-Hodgkin lymphoma and hepatoblastoma complicating ataxia-telangiectasia. Immunopharmacology and immunotoxicology 2012. link 31 Kozlov SV, Graham ME, Jakob B, Tobias F, Kijas AW, Tanuji M et al.. Autophosphorylation and ATM activation: additional sites add to the complexity. The Journal of biological chemistry 2011. link 32 Broccoletti T, Del Giudice E, Cirillo E, Vigliano I, Giardino G, Ginocchio VM et al.. Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia. European journal of neurology 2011. link 33 Li J, Han YR, Plummer MR, Herrup K. Cytoplasmic ATM in neurons modulates synaptic function. Current biology : CB 2009. link 34 Cortés ML, Oehmig A, Saydam O, Sanford JD, Perry KF, Fraefel C et al.. Targeted integration of functional human ATM cDNA into genome mediated by HSV/AAV hybrid amplicon vector. Molecular therapy : the journal of the American Society of Gene Therapy 2008. link 35 Rogatcheva MB, Fritz KL, Rund LA, Pollock CB, Beever JE, Counter CM et al.. Characterization of the porcine ATM gene: towards the generation of a novel non-murine animal model for Ataxia-Telangiectasia. Gene 2007. link 36 Lavin MF. ATM and the Mre11 complex combine to recognize and signal DNA double-strand breaks. Oncogene 2007. link 37 Biton S, Gropp M, Itsykson P, Pereg Y, Mittelman L, Johe K et al.. ATM-mediated response to DNA double strand breaks in human neurons derived from stem cells. DNA repair 2007. link 38 Shackelford RE, Fu Y, Manuszak RP, Brooks TC, Sequeira AP, Wang S et al.. Iron chelators reduce chromosomal breaks in ataxia-telangiectasia cells. DNA repair 2006. link 39 Mitui M, Bernatowska E, Pietrucha B, Piotrowska-Jastrzebska J, Eng L, Nahas S et al.. ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. Annals of human genetics 2005. link 40 Trimis GG, Athanassaki CK, Kanariou MM, Giannoulia-Karantana AA. Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia. Journal of postgraduate medicine 2004. link 41 Goodarzi AA, Jonnalagadda JC, Douglas P, Young D, Ye R, Moorhead GB et al.. Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A. The EMBO journal 2004. link 42 Lai CH, Chun HH, Nahas SA, Mitui M, Gamo KM, Du L et al.. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proceedings of the National Academy of Sciences of the United States of America 2004. link 43 Butch AW, Chun HH, Nahas SA, Gatti RA. Immunoassay to measure ataxia-telangiectasia mutated protein in cellular lysates. Clinical chemistry 2004. link 44 Lantelme E, Turinetto V, Mantovani S, Marchi A, Regazzoni S, Porcedda P et al.. Analysis of secondary V(D)J rearrangements in mature, peripheral T cells of ataxia-telangiectasia heterozygotes. Laboratory investigation; a journal of technical methods and pathology 2003. link 45 Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Seminars in pediatric neurology 2003. link00026-3) 46 Shackelford RE, Manuszak RP, Johnson CD, Hellrung DJ, Steele TA, Link CJ et al.. Desferrioxamine treatment increases the genomic stability of Ataxia-telangiectasia cells. DNA repair 2003. link00090-9) 47 Chun HH, Sun X, Nahas SA, Teraoka S, Lai CH, Concannon P et al.. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Molecular genetics and metabolism 2003. link 48 Uziel T, Lerenthal Y, Moyal L, Andegeko Y, Mittelman L, Shiloh Y. Requirement of the MRN complex for ATM activation by DNA damage. The EMBO journal 2003. link 49 Theunissen JW, Kaplan MI, Hunt PA, Williams BR, Ferguson DO, Alt FW et al.. Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice. Molecular cell 2003. link00455-6) 50 Hannan MA, Hellani A, Al-Khodairy FM, Kunhi M, Siddiqui Y, Al-Yussef N et al.. Deficiency in the repair of UV-induced DNA damage in human skin fibroblasts compromised for the ATM gene. Carcinogenesis 2002. link 51 Tachibana A, Sasaki MS. Characteristics of the end-joining of DNA double-strand breaks by the ataxia-telangiectasia nuclear extract. Biochemical and biophysical research communications 2002. link02191-5) 52 Farr AK, Shalev B, Crawford TO, Lederman HM, Winkelstein JA, Repka MX. Ocular manifestations of ataxia-telangiectasia. American journal of ophthalmology 2002. link01796-8) 53 Scott SP, Teh A, Peng C, Lavin MF. One-step site-directed mutagenesis of ATM cDNA in large (20kb) plasmid constructs. Human mutation 2002. link 54 Speck P, Ikeda M, Ikeda A, Lederman HM, Longnecker R. Signal transduction through the B cell antigen receptor is normal in ataxia-telangiectasia B lymphocytes. The Journal of biological chemistry 2002. link 55 Kishi S, Lu KP. A critical role for Pin2/TRF1 in ATM-dependent regulation. Inhibition of Pin2/TRF1 function complements telomere shortening, radiosensitivity, and the G(2)/M checkpoint defect of ataxia-telangiectasia cells. The Journal of biological chemistry 2002. link 56 Stern N, Hochman A, Zemach N, Weizman N, Hammel I, Shiloh Y et al.. Accumulation of DNA damage and reduced levels of nicotine adenine dinucleotide in the brains of Atm-deficient mice. The Journal of biological chemistry 2002. link 57 Khanna KK, Lavin MF, Jackson SP, Mulhern TD. ATM, a central controller of cellular responses to DNA damage. Cell death and differentiation 2001. link 58 Tachibana A, Tatsumi K, Furuno-Fukushi I, Sasaki MS. High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays. Japanese journal of cancer research : Gann 2001. link 59 Sandoval C, Schantz S, Posey D, Swift M. Parotid and thyroid gland cancers in patients with ataxia-telangiectasia. Pediatric hematology and oncology 2001. link 60 Zhang Y, Dimtchev A, Dritschilo A, Jung M. Ionizing radiation-induced apoptosis in ataxia-telangiectasia fibroblasts. Roles of caspase-9 and cellular inhibitor of apoptosis protein-1. The Journal of biological chemistry 2001. link 61 Kishi S, Zhou XZ, Ziv Y, Khoo C, Hill DE, Shiloh Y et al.. Telomeric protein Pin2/TRF1 as an important ATM target in response to double strand DNA breaks. The Journal of biological chemistry 2001. link 62 Sarkaria JN, Eshleman JS. ATM as a target for novel radiosensitizers. Seminars in radiation oncology 2001. link 63 Cao JP, Meyn MS, Eckardt-Schupp F, Fritz E. TEL1 from Saccharomyces cerevisiae suppresses chromosome aberrations induced by ionizing radiation in ataxia-telangiectasia cells without affecting cell cycle checkpoints. Radiation and environmental biophysics 2001. link 64 Su Y, Swift M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Annals of internal medicine 2000. link 65 Bonnen PE, Story MD, Ashorn CL, Buchholz TA, Weil MM, Nelson DL. Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. American journal of human genetics 2000. link 66 Kastan MB, Lim DS. The many substrates and functions of ATM. Nature reviews. Molecular cell biology 2000. link 67 Lee Y, McKinnon PJ. ATM dependent apoptosis in the nervous system. Apoptosis : an international journal on programmed cell death 2000. link 68 Turker MS, Gage BM, Rose JA, Ponomareva ON, Tischfield JA, Stambrook PJ et al.. Solid tissues removed from ATM homozygous deficient mice do not exhibit a mutator phenotype for second-step autosomal mutations. Cancer research 1999. link 69 Johnson RT, Gotoh E, Mullinger AM, Ryan AJ, Shiloh Y, Ziv Y et al.. Targeting double-strand breaks to replicating DNA identifies a subpathway of DSB repair that is defective in ataxia-telangiectasia cells. Biochemical and biophysical research communications 1999. link 70 Kuljis RO, Chen G, Lee EY, Aguila MC, Xu Y. ATM immunolocalization in mouse neuronal endosomes: implications for ataxia-telangiectasia. Brain research 1999. link01813-2) 71 Lavin MF, Khanna KK. ATM: the protein encoded by the gene mutated in the radiosensitive syndrome ataxia-telangiectasia. International journal of radiation biology 1999. link 72 Watters D, Kedar P, Spring K, Bjorkman J, Chen P, Gatei M et al.. Localization of a portion of extranuclear ATM to peroxisomes. The Journal of biological chemistry 1999. link 73 Sadighi Akha AA, Humphrey RL, Winkelstein JA, Loeb DM, Lederman HM. Oligo-/monoclonal gammopathy and hypergammaglobulinemia in ataxia-telangiectasia. A study of 90 patients. Medicine 1999. link 74 Sanal O, Ersoy F, Yel L, Tezcan I, Metin A, Ozyürek H et al.. Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia. Journal of clinical immunology 1999. link 75 Smith GC, Cary RB, Lakin ND, Hann BC, Teo SH, Chen DJ et al.. Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM. Proceedings of the National Academy of Sciences of the United States of America 1999. link 76 Fanos JH. "My crooked vision": the well sib views ataxia-telangiectasia. American journal of medical genetics 1999. link1096-8628(19991222)87:5<420::aid-ajmg9>3.0.co;2-u) 77 Barlow C, Dennery PA, Shigenaga MK, Smith MA, Morrow JD, Roberts LJ et al.. Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs. Proceedings of the National Academy of Sciences of the United States of America 1999. link 78 Li A, Huang Y, Swift M. Neutral sequence variants and haplotypes at the 150 Kb ataxia-telangiectasia locus. American journal of medical genetics 1999. link 79 Fanos JH, Gatti RA. A mark on the arm: myths of carrier status in sibs of individuals with ataxia-telangiectasia. American journal of medical genetics 1999. link1096-8628(19991008)86:4<338::aid-ajmg8>3.0.co;2-f) 80 Fukao T, Kaneko H, Birrell G, Gatei M, Tashita H, Yoshida T et al.. ATM is upregulated during the mitogenic response in peripheral blood mononuclear cells. Blood 1999. link 81 Fanos JH, Mackintosh MA. Never again joy without sorrow: the effect on parents of a child with ataxia-telangiectasia. American journal of medical genetics 1999. link1096-8628(19991222)87:5<413::aid-ajmg8>3.0.co;2-x) 82 Soares HD, Morgan JI, McKinnon PJ. Atm expression patterns suggest a contribution from the peripheral nervous system to the phenotype of ataxia-telangiectasia. Neuroscience 1998. link00117-1) 83 Zhang N, Chen P, Gatei M, Scott S, Khanna KK, Lavin MF. An anti-sense construct of full-length ATM cDNA imposes a radiosensitive phenotype on normal cells. Oncogene 1998. link 84 Jeggo PA, Carr AM, Lehmann AR. Splitting the ATM: distinct repair and checkpoint defects in ataxia-telangiectasia. Trends in genetics : TIG 1998. link01511-x) 85 Varghese S, Jung M. Overexpression of Rb and E2F-1 in ataxia-telangiectasia lymphocytes. Archives of pharmacal research 1998. link 86 Canman CE, Lim DS. The role of ATM in DNA damage responses and cancer. Oncogene 1998. link 87 Uhrhammer N, Bay JO, Bignon YJ. Seventh International Workshop on Ataxia-Telangiectasia. Cancer research 1998. link 88 Ejima Y, Sasaki MS. Phenotypic correction of ataxia-telangiectasia cellular defect by exogenously introduced human or mouse subchromosomal fragments. Somatic cell and molecular genetics 1997. link 89 Mitchell EL, Scott D. G2 chromosomal radiosensitivity in fibroblasts of ataxia-telangiectasia heterozygotes and a Li-Fraumeni syndrome patient with radioresistant cells. International journal of radiation biology 1997. link 90 deVries CR, Kaplan GW. An unusual case of urinary incontinence, ataxia-telangiectasia, and metastatic dysgerminoma: case report and review of the literature. Urology 1997. link00244-6) 91 Cohen MC, Sánchez-Marull R, Drut R. Aneuploid nucleomegaly of bronchial cells in ataxia-telangiectasia: cytologic recognition in bronchial brushings. Diagnostic cytopathology 1997. link1097-0339(199712)17:6<484::aid-dc21>3.0.co;2-h) 92 Tchirkov A, Bay JO, Pernin D, Bignon YJ, Rio P, Grancho M et al.. Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G2 phase chromosomal radiosensitivity of peripheral blood lymphocytes. Human genetics 1997. link 93 Zhang N, Chen P, Khanna KK, Scott S, Gatei M, Kozlov S et al.. Isolation of full-length ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype. Proceedings of the National Academy of Sciences of the United States of America 1997. link 94 Alfonsi E, Merlo IM, Monafo V, Lanzi G, Ottolini A, Veggiotti P et al.. Electrophysiologic study of central motor pathways in ataxia-telangiectasia. Journal of child neurology 1997. link 95 Dar ME, Winters TA, Jorgensen TJ. Identification of defective illegitimate recombinational repair of oxidatively-induced DNA double-strand breaks in ataxia-telangiectasia cells. Mutation research 1997. link00021-9) 96 Kuljis RO, Xu Y, Aguila MC, Baltimore D. Degeneration of neurons, synapses, and neuropil and glial activation in a murine Atm knockout model of ataxia-telangiectasia. Proceedings of the National Academy of Sciences of the United States of America 1997. link 97 Barlow C, Liyanage M, Moens PB, Deng CX, Ried T, Wynshaw-Boris A. Partial rescue of the prophase I defects of Atm-deficient mice by p53 and p21 null alleles. Nature genetics 1997. link 98 Rotman G, Shiloh Y. Ataxia-telangiectasia: is ATM a sensor of oxidative damage and stress?. BioEssays : news and reviews in molecular, cellular and developmental biology 1997. link 99 Plug AW, Peters AH, Xu Y, Keegan KS, Hoekstra MF, Baltimore D et al.. ATM and RPA in meiotic chromosome synapsis and recombination. Nature genetics 1997. link 100 McConville CM, Stankovic T, Byrd PJ, McGuire GM, Yao QY, Lennox GG et al.. Mutations associated with variant phenotypes in ataxia-telangiectasia. American journal of human genetics 1996. link

    Original source

    1. [1]
      Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond ATM. — Novis LE, Gouvea LA, Silva TYT, Raslan IR, Lago CSA, Barreto TLN et al. Movement disorders clinical practice (2026)
    2. [2]
      Progressive cerebellar ataxia with extensive peripheral telangiectasias in ataxia-telangiectasia. — Ozturk GO, Aksoy YA BMJ case reports (2025)
    3. [3]
      ATM interaction with GRP94 modulates oncogenic receptor expression and signaling and microglial activation. — Burrell PE, Fleenor DE, Nicholson OM, Shao C, Kastan MB Proceedings of the National Academy of Sciences of the United States of America (2025)
    4. [4]
      Cerebellar Cognitive Affective Syndrome in Mexican Pediatric Patients with Ataxia-Telangiectasia. — De la Cruz Córdoba EA, González Medrano JA, Herrera Mora P, Gómez-Garza G, González-Serrano ME, Yamazaki-Nakashimada MA et al. Cerebellum (London, England) (2024)
    5. [5]
      Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia. — Major T, Tiet MY, Horvath R, Hensiek AE Cerebellum (London, England) (2024)
    6. [6]
      How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty. — Schiller J, Towne MC, Epstein R, Thornton JK, Suslovitch V Journal of genetic counseling (2024)
    7. [7]
      ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia. — Lai J, Demirbas D, Kim J, Jeffries AM, Tolles A, Park J et al. Cell reports (2024)
    8. [8]
      The Effect of N-Acetyl-DL-Leucine on Neurological Symptoms in a Patient with Ataxia-Telangiectasia: a Case Study. — Saberi-Karimian M, Beyraghi-Tousi M, Mirzadeh M, Gumpricht E, Sahebkar A Cerebellum (London, England) (2023)
    9. [9]
      Real-life Wrist Movement Patterns Capture Motor Impairment in Individuals with Ataxia-Telangiectasia. — Gupta AS, Luddy AC, Khan NC, Reiling S, Thornton JK Cerebellum (London, England) (2023)
    10. [10]
      Effectiveness of Person-Environment-Occupation Model on a Pediatric Neurodegenerative Disease: A Case Report of a Child with Ataxia-Telangiectasia. — Joveini G, Malja M, Hejazi-Shirmard M Occupational therapy in health care (2023)
    11. [11]
      Free-Living Motor Activity Monitoring in Ataxia-Telangiectasia. — Khan NC, Pandey V, Gajos KZ, Gupta AS Cerebellum (London, England) (2022)
    12. [12]
      Dysfunction of cerebellar microglia in Ataxia-telangiectasia. — Levi H, Bar E, Cohen-Adiv S, Sweitat S, Kanner S, Galron R et al. Glia (2022)
    13. [13]
      Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature. — Amirifar P, Yazdani R, Moeini Shad T, Ghanadan A, Abolhassani H, Lavin M et al. Immunological investigations (2020)
    14. [14]
      Classic ataxia-telangiectasia: the phenotype of long-term survivors. — van Os NJH, van Deuren M, Weemaes CMR, van Gaalen J, Hijdra H, Taylor AMR et al. Journal of neurology (2020)
    15. [15]
      Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. — Duecker R, Baer P, Eickmeier O, Strecker M, Kurz J, Schaible A et al. Redox biology (2018)
    16. [16]
      More than ataxia - Movement disorders in ataxia-telangiectasia. — Teive HAG, Camargo CHF, Munhoz RP Parkinsonism & related disorders (2018)
    17. [17]
      Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. — Afifi PO, Elsanadiky HH International journal of pediatric otorhinolaryngology (2017)
    18. [18]
      Rats with a missense mutation in Atm display neuroinflammation and neurodegeneration subsequent to accumulation of cytosolic DNA following unrepaired DNA damage. — Quek H, Luff J, Cheung K, Kozlov S, Gatei M, Lee CS et al. Journal of leukocyte biology (2017)
    19. [19]
      Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. — Carranza D, Vega AK, Torres-Rusillo S, Montero E, Martinez LJ, Santamaría M et al. Neuromolecular medicine (2017)
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      Reactive Oxygen Species (ROS)-Activated ATM-Dependent Phosphorylation of Cytoplasmic Substrates Identified by Large-Scale Phosphoproteomics Screen. — Kozlov SV, Waardenberg AJ, Engholm-Keller K, Arthur JW, Graham ME, Lavin M Molecular & cellular proteomics : MCP (2016)
    21. [21]
      Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. — Suarez F, Mahlaoui N, Canioni D, Andriamanga C, Dubois d'Enghien C, Brousse N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology (2015)
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      The relationship between nutritional status, vitamin A and zinc levels and oxidative stress in patients with ataxia-telangiectasia. — da Silva R, dos Santos-Valente EC, Burim Scomparini F, Saccardo Sarni RO, Costa-Carvalho BT Allergologia et immunopathologia (2014)
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