Title: Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia
Authors: Hiel, J A P ×
van Engelen, B G M
Weemaes, C M R
Broeks, A
Verrips, A
ter Laak, H
Vingerhoets, H M
van den Heuvel, Lambertus
Lammens, M
Gabreëls, F J M
Last, J I
Taylor, A M R #
Issue Date: Jul-2006
Publisher: Advanstar Communications
Series Title: Neurology vol:67 issue:2 pages:346-9
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.
ISSN: 0028-3878
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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