References
Savitsky K, Bar-Shira A, Gilad S et al (1995) A single ataxia telangiectasia gene with a product similar to P1-3 kinase. Science 268:1749–1753
Sedgwick RP, Boder E (1991) Ataxia telangiectasia. In: Vinken PJ, Bruyn GW, Klawans HL (eds) Handbook of clinical neurology, vol 16. Elsevier, Amsterdam, pp 347–423
Demuth I, Dutrannoy V, Marques W Jr et al (2011) New mutations in the ATM gene and clinical data of 25 AT patients. Neurogenetics 12:273–282
Henikoff S, Henikoff JG (1992) Amino acid substitution matrices from protein blocks. Proc Natl Acad Sci USA 89:10915–10919
Verhagen MM, Abdo WF, Willemsen MA et al (2009) Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 73:430–437
Waldmann TA, Broder S, Goldman CK, Frost K, Korsmeyer SJ, Medici MA (1983) Disorders of B cells and helper T cells in the pathogenesis of the immunoglobulin deficiency of patients with ataxia telangiectasia. J Clin Invest 71:282–295
Swift M, Morrell D, Massey RB, Chase CL (1991) Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Eng J Med 325:1831–1836
Swift M, Morrell D, Cromartie E et al (1986) The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 39:573–583
Shridharan R, Radhakrishnan K, Ashok PP, Mousa ME (1985) Prevalence and pattern of spinocerebellar degenerations in northeastern Libya. Brain 108:831–843
Belaoui M, Barbouche MR, Sassi A et al (1997) Primary immunodeficiency in Tunisia: study of 152 cases. Arch Pediatr 4:827–831
Triki C, Feki I, Meziou M, Turki H, Zahaf A, Mhiri C (2000) Clinical, biological and genetic study of 24 patients with ataxia-telangiectasia from southern Tunisia. Rev Neurol (Paris) 156:634–637
Wagstaff LA, Joffe R (1969) Ataxia-telangiectasia in a South African Bantu child. S Afr Med J 43:662–664
Aiyesimoju AB, Osuntokun BO, Bademosi O, Adeuja AO (1984) Hereditary neurodegenerative disorders in Nigerian Africans. Neurology 34:361–362
Acknowledgments
We are grateful to the subjects and their families for participating in this study. We thank Alison La Pean for help with patient characterization, Dr. Aldiouma Guindo at the University of Bamako, Mali for the use of his laboratory, Dr. Barrington Burnett at the Neurogenetics Branch, NINDS for help with editing, and James Nagle and Deborah Kauffmann at the NINDS DNA sequencing facility for help with sequencing. This work was supported by intramural funds from the NINDS at NIH.
Conflicts of interest
On behalf of all authors, the corresponding author states that there is no conflict of interest.
Ethical standard
This study has been approved by the appropriate ethics committee and has therefore been performed in accordance with the ethical standards laid down in 1964 Declaration of Helsinki.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Landouré, G., Mochel, F., Meilleur, K. et al. Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. J Neurol 260, 324–326 (2013). https://doi.org/10.1007/s00415-012-6738-5
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00415-012-6738-5