Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2006 Jul 25;67(2):346-9.
doi: 10.1212/01.wnl.0000224878.22821.23.

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

J A P Hiel  1 , B G M van Engelen, C M R Weemaes, A Broeks, A Verrips, H ter Laak, H M Vingerhoets, L P W van den Heuvel, M Lammens, F J M Gabreëls, J I Last, A M R Taylor
Affiliations
Case Reports

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

J A P Hiel et al. Neurology. .

Abstract

The authors report four adult-onset ataxia telangiectasia (AT) patients belonging to two families lacking pronounced cerebellar ataxia but displaying distal spinal muscular atrophy. AT was proven by genetic studies showing ATM mutations and a reduced level of ATM. ATM activity, as measured by phosphorylation of p53, was close to normal, indicating that the p53 response is not the only factor in preventing neural damage in anterior horn cells in AT.

PubMed Disclaimer

Similar articles

  • The ATM gene and ataxia telangiectasia.
    Mavrou A, Tsangaris GT, Roma E, Kolialexi A. Mavrou A, et al. Anticancer Res. 2008 Jan-Feb;28(1B):401-5. Anticancer Res. 2008. PMID: 18383876 Review.
  • [Cellular repair potential in families of ataxia-telangiectasia patients].
    Polubotko EA, Shatrova AN, Pleskach NM, Mikhel'son VM, Spivak IM. Polubotko EA, et al. Tsitologiia. 2009;51(12):978-85. Tsitologiia. 2009. PMID: 20141033 Russian.
  • Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
    Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Micol R, et al. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12. J Allergy Clin Immunol. 2011. PMID: 21665257
  • Use of the comet test to assess DNA damage in children with ataxia-telangiectasia and their relatives.
    Moreno Galarraga L, Santos Pérez JL, Ramirez-Tortosa MC, Quiles Morales JL, Granados Principal S, Martínez de Victoria Muñoz E, Ortega Martos L. Moreno Galarraga L, et al. J Investig Allergol Clin Immunol. 2008;18(2):137-8. J Investig Allergol Clin Immunol. 2008. PMID: 18447146 No abstract available.
  • [Ataxia-telangiectasia: a review].
    Bott L, Thumerelle C, Cuvellier JC, Deschildre A, Vallée L, Sardet A. Bott L, et al. Arch Pediatr. 2006 Mar;13(3):293-8. doi: 10.1016/j.arcped.2005.11.022. Epub 2006 Jan 19. Arch Pediatr. 2006. PMID: 16423518 Review. French.
See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

Substances