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Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia

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References

  1. 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

    Article  PubMed  CAS  Google Scholar 

  2. 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

    Google Scholar 

  3. 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

    Article  PubMed  CAS  Google Scholar 

  4. Henikoff S, Henikoff JG (1992) Amino acid substitution matrices from protein blocks. Proc Natl Acad Sci USA 89:10915–10919

    Article  PubMed  CAS  Google Scholar 

  5. Verhagen MM, Abdo WF, Willemsen MA et al (2009) Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 73:430–437

    Article  PubMed  CAS  Google Scholar 

  6. 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

    Article  PubMed  CAS  Google Scholar 

  7. 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

    Article  CAS  Google Scholar 

  8. 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

    PubMed  CAS  Google Scholar 

  9. Shridharan R, Radhakrishnan K, Ashok PP, Mousa ME (1985) Prevalence and pattern of spinocerebellar degenerations in northeastern Libya. Brain 108:831–843

    Article  Google Scholar 

  10. Belaoui M, Barbouche MR, Sassi A et al (1997) Primary immunodeficiency in Tunisia: study of 152 cases. Arch Pediatr 4:827–831

    Article  Google Scholar 

  11. 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

    CAS  Google Scholar 

  12. Wagstaff LA, Joffe R (1969) Ataxia-telangiectasia in a South African Bantu child. S Afr Med J 43:662–664

    PubMed  CAS  Google Scholar 

  13. Aiyesimoju AB, Osuntokun BO, Bademosi O, Adeuja AO (1984) Hereditary neurodegenerative disorders in Nigerian Africans. Neurology 34:361–362

    Article  PubMed  CAS  Google Scholar 

Download references

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.

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Authors and Affiliations

  1. Service de Neurologie, Centre Hospitalier Universitaire du Point “G”, B.P: 333, Bamako, Mali

    Guida Landouré, Thomas Coulibaly, Cheick O. Guinto & Moussa Traoré

  2. Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA

    Guida Landouré, Katherine Meilleur, Modibo Sangaré & Kenneth H. Fischbeck

  3. INSERM UMR S975, Brain and Spine Institute, Hôpital La Salpêtrière, Paris, France

    Fanny Mochel

  4. AP-HP, Department of Genetics, Hôpital La Salpêtrière, Paris, France

    Fanny Mochel

  5. University Pierre and Marie Curie, Paris, France

    Fanny Mochel

  6. Service d’Hémato-oncologie, Centre Hospitalier Universitaire du Point “G”, Bamako, Mali

    Madani Ly

  7. Faculté de Médecine, de Pharmacie et d’Odonto-stomatologie, Université de Bamako, Bamako, Mali

    Nouhoum Bocoum & Koumba Bagayoko

  8. Laboratoire d’analyses médicales BIOTECH, Torokorobougou, Bamako, Mali

    Amadou M. Sarr

  9. Service de Cardiologie, Centre Hospitalier Universitaire de Gabriel Touré, Bamako, Mali

    Hamidou O. Bâ

  10. Service de Psychiatrie, Centre Hospitalier Universitaire du Point “G”, Bamako, Mali

    Souleymane Coulibaly

  11. Service de Radiologie, Centre Hospitalier “Mère-Enfant” le Luxembourg, Bamako, Mali

    Mahamadou Touré

Authors
  1. Guida Landouré
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  2. Fanny Mochel
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  3. Katherine Meilleur
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  4. Madani Ly
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  5. Modibo Sangaré
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  6. Nouhoum Bocoum
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  7. Koumba Bagayoko
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  8. Thomas Coulibaly
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  9. Amadou M. Sarr
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  10. Hamidou O. Bâ
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  11. Souleymane Coulibaly
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  12. Cheick O. Guinto
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  13. Mahamadou Touré
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  14. Moussa Traoré
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  15. Kenneth H. Fischbeck
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Corresponding author

Correspondence to Guida Landouré.

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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

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  • DOI: https://doi.org/10.1007/s00415-012-6738-5

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