Levy A, Lang AE. Ataxia-telangiectasia: a review of movement disorders, clinical features, and genotype correlations. Mov Disord. 2018;33(8):1238–47.

Article  PubMed  Google Scholar 

Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Ataxia telangiectasia: a review. Orphanet J Rare Dis. 2016;11(1):1–21.

Article  Google Scholar 

Sedgwick RP, Boder E. In: Vinken PJ, Bruyn GW, Klawans H, editors. Handbook of clinical neurology. New York, NY: Elsevier; 1991. p. 347–93.

Google Scholar 

Chun HH, Gatti RA. AtaxiATelangiectasia, an evolving phenotype. DNA Repair (Amst). 2004;3:1187–96.

Article  CAS  PubMed  Google Scholar 

Krauthammer A, Lahad A, Goldberg L, Sarouk I, Weiss B, Somech R, et al. Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia. BMC Pediatr. 2018;18(1):185.

Article  PubMed  PubMed Central  Google Scholar 

Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: a genotype–phenotype study. Hum Mutat. 2012;33(3):561–71.

Article  CAS  PubMed  Google Scholar 

Lockman JL, Iskander AJ, Bembea M, Crawford TO, Lederman HM, McGrath-Morrow S, Easley RB. The critically ill patient with ataxia–telangiectasia: a case series. Pediatr Crit Care Med. 2012;13(2):e84-90.

Article  PubMed  Google Scholar 

Van Os NJH, Jansen AFM, Van Deuren M, Haraldsson A, Van Driel NTM, Etzioni A, et al. Ataxia-telangiectasia: immunodeficiency and survival. Clin Immunol. 2017;178:45–55. https://doi.org/10.1016/j.clim.2017.01.009.

Habek M, Brinar VV, Rados M, Zadro I, Zarkovic K. Brain MRI abnormalities in ataxia-telangiectasia. Neurologist. 2008;14(3):192–5. https://doi.org/10.1097/NRL.0b013e31815fa5a7.

Guralnik JM, Eisenstaedt RS, Ferrucci L, Klein HG, Woodman RC. Prevalence of anemia in persons 65 years and older in the United States: evidence for a high rate of unexplained anemia. Blood. 2004;104(8):2263–8.

Article  CAS  PubMed  Google Scholar 

Weiss B, Krauthammer A, Soudack M, Lahad A, Sarouk I, Somech R, Heimer G, Ben-Zeev B, Nissenkorn A. Liver disease in pediatric patients with ataxia telangiectasia: a novel report. J Pediatr Gastroenterol Nutr. 2016;62(4):550–5.

Article  CAS  PubMed  Google Scholar 

Moslemi M, Vafaei M, Khani P, Soheili M, Nedaeinia R, Manian M, Moradi Y, Sohrabi E. The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis. Cancer Cell Int. 2021;21:1–9.

Article  Google Scholar 

Fields T, Patterson M, Bremova-Ertl T, Belcher G, Billington I, Churchill GC, et al. A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: niemann-pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. Trials. 2021;22(1):84.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, et al. Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series. J Neurol. 2013;260(10):2556–61.

Article  PubMed  PubMed Central  Google Scholar 

Brueggemann A, Bicvic A, Goeldlin M, Kalla R, Kerkeni H, Mantokoudis G, Abegg M, Kolníková M, Mohaupt M, Bremova-Ertl T. Effects of acetyl-DL-leucine on ataxia and downbeat-nystagmus in six patients with ataxia telangiectasia. J Child Neurol. 2022;37(1):20–7.

Article  PubMed  Google Scholar 

Tighilet B, Leonard J, Bernard-Demanze L, Lacour M. Comparative analysis of pharmacological treatments with N-acetyl-DL-leucine (Tanganil) and its two isomers (N-acetyl-L-leucine and N-acetyl-D-leucine) on vestibular compensation: behavioral investigation in the cat. Eur J Pharmacol. 2015;769:342–9.

Article  CAS  PubMed  Google Scholar 

Sarkar C, Hegdekar N, Lipinski MM. N-acetyl-L-leucine treatment attenuates neuronal cell death and suppresses neuroinflammation after traumatic brain injury in mice. BioRxiv. 2019;759894.

Hegdekar N, Lipinski MM, Sarkar C. N-acetyl-L-leucine improves functional recovery and attenuates cortical cell death and neuroinflammation after traumatic brain injury in mice. Sci Rep. 2021;11(1):9249.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Churchill GC, Strupp M, Galione A, Platt FM. Unexpected differences in the pharmacokinetics of N-acetyl-DL-leucine enantiomers after oral dosing and their clinical relevance. PLoS ONE. 2020;15(2):e0229585.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vibert N, Vidal PP. In vitro effects of acetyl-dl‐leucine (tanganil®) on central vestibular neurons and vestibulo‐ocular networks of the guinea‐pig. Eur J Neurosci. 2001;13(4):735–48.

Article  CAS  PubMed  Google Scholar 

Vanderkam P, Blanchard C, Naudet F, Pouchain D, Vaillant Roussel H, Perault-Pochat MC, et al. Efficacy of acetylleucine in vertigo and dizziness: a systematic review of randomised controlled trials. Eur J Clin Pharmacol. 2019;75(5):603–7.

Article  CAS  PubMed  Google Scholar 

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 ataxiATelangiectasia: a case study. Cerebellum. 2023;22(1):96–101.

Article  CAS  PubMed  Google Scholar 

Beyraghi-Tousi M, Sahebkar A, Houra M, Sarvghadi P, Jamialahmadi T, Bagheri R, Tavallaie S, Gumpricht E, Saberi-Karimian M. Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: a randomized, double-blind, placebo-controlled, crossover clinical trial. Eur J Pediatr Neurol. 2024;50:57–63.

Article  CAS  Google Scholar 

O’brien SW, Konsler, Gwen K. Alleviating children’s postoperative pain. MCN: Am J Maternal/Child Nurs. 1988;133:183–6.

Google Scholar 

Sampson TR, Debelius JW, Thron T, Janssen S, Shastri GG, Ilhan ZE, Challis C, Schretter CE, Rocha S, Gradinaru V, et al. Gut microbiota regulate motor deficits and neuroinflammation in a model of Parkinson’s disease. Cell. 2016;167(6):1469-e14801412. https://doi.org/10.1016/j.cell.2016.11.018.

Article  CAS  PubMed  PubMed Central  Google Scholar 

XU, Zhifeng, et al. N-acetyl-L-leucine protects MPTP-treated Parkinson’s disease mouse models by suppressing desulfobacterota via the gut-brain axis. Brain Res Bull. 2023;202:110729.

Article  CAS  PubMed  Google Scholar 

Sabino P, de Oliveira B, Putti S, Naro F, Pellegrini M. Bone marrow transplantation as therapy for AtaxiATelangiectasia: a systematic review. Cancers (Basel). 2020;12(11).

Díaz D, Del Pilar C, Carretero J, Alonso JR, Weruaga E. Daily bone marrow cell transplantations for the management of fast neurodegenerative processes. J Tissue Eng Regen Med. 2019;13(9):1702–11.

Article  PubMed  Google Scholar 

Harris VK, Yan QJ, Vyshkina T, et al. Clinical and pathological effects of intrathecal injection of mesenchymal stem cell-derived neural progenitors in an experimental model of multiple sclerosis. J Neurol Sci. 2012;313(1–2):167–77. https://doi.org/10.1016/j.jns.2011.08.036.

Article  PubMed  Google Scholar 

Harris VK, Faroqui R, Vyshkina T, Sadiq SA. Characterization of autologous mesenchymal stem cell-derived neural progenitors as a feasible source of stem cells for central nervous system applications in multiple sclerosis. Stem Cells Transl Med. 2012;1(7):536–47. https://doi.org/10.5966/sctm.2012-0015.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fan Y, Goh EL, Chan JK. Neural cells for neurodegenerative diseases in clinical trials. Stem Cells Transl Med. 2023;12(8):510–26.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Harris VK, Stark J, Vyshkina T, Blackshear L, Joo G, Stefanova V, Sara G, Sadiq SA. Phase I trial of intrathecal mesenchymal stem cell-derived neural progenitors in progressive multiple sclerosis. EBioMedicine. 2018;29:23–30.

Article  PubMed  PubMed Central  Google Scholar 

Ovchinnikov DA, Withey SL, Leeson HC, Lei UW, Sundarrajan A, Junday K, et al. Correction of ATM mutations in iPS cells from two ataxiATelangiectasia patients restores DNA damage and oxidative stress responses. Hum Mol Genet. 2020;29(6):990–1001.

Article  CAS  PubMed  Google Scholar 

Buoni S, Zannolli R, Sorrentino L, Fois A. Betamethasone and improvement of neurological symptoms in ataxiATelangiectasia. Arch Neurol. 2006;63(10):1479–82.

Article  PubMed