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NEUROLOGY 2006;67:346-349
© 2006 American Academy of Neurology
Brief Communications

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

J.A.P. Hiel, MD, PhD, B. G.M. van Engelen, MD, PhD, C. M.R. Weemaes, MD, PhD, A. Broeks, PhD, A. Verrips, MD, PhD, H. ter Laak, PhD, H. M. Vingerhoets, MD, L. P.W. van den Heuvel, PhD, M. Lammens, MD, PhD, F. J.M. Gabreëls, MD, PhD, J. I. Last, MD, PhD and A. M.R. Taylor, MD, PhD

From the Department of Neurology (J.A.P.H.), Máxima Medical Centre, Veldhoven, The Netherlands; Departments of Neurology (J.A.P.H., B.G.M.v.E., A.V., H.t.L., H.M.V., M.L., F.J.M.G.) and Pediatrics (C.M.R.W.) and Laboratory of Pediatrics and Neurology (L.P.W.v.d.H.), University Medical Centre Nijmegen, Nijmegen, The Netherlands; Department of Experimental Therapy (A.B.), Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands; and University of Birmingham, CRC Institute for Cancer Studies (J.I.L., A.M.R.T.), Edgbaston, Birmingham, United Kingdom.

Address correspondence and reprint requests to DrP. Hiel, Department of Neurology, Máxima Medical Centre, Veldhoven, PO Box 7777, 5500 MB Veldhoven, The Netherlands; e-mail: j.hiel{at}mmc.nl

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.

Disclosure: The authors report no conflicts of interest.

Received June 15, 2005. Accepted in final form March 17, 2006.






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