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

JA Hiel; BG van Engelenl; CM Weemaes; A Broeks; A Verrips; H ter Laak; HM Vingerhoets; LP van den Heuvel; M Lammens; FJ Gabreels; James Last; Alexander Taylor

doi:10.1212/01.wnl.0000224878.22821.23

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

JA Hiel, BG van Engelenl, CM Weemaes, A Broeks, A Verrips, H ter Laak, HM Vingerhoets, LP van den Heuvel, M Lammens, FJ Gabreels, James Last, Alexander Taylor

Cancer and Genomic Sciences

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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.

Original language	English
Pages (from-to)	346-349
Number of pages	4
Journal	Neurology
Volume	67
DOIs	https://doi.org/10.1212/01.wnl.0000224878.22821.23
Publication status	Published - 25 Jul 2006

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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.",

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AU - Hiel, JA

AU - van Engelenl, BG

AU - Weemaes, CM

AU - Broeks, A

AU - Verrips, A

AU - ter Laak, H

AU - Vingerhoets, HM

AU - van den Heuvel, LP

AU - Lammens, M

AU - Gabreels, FJ

AU - Last, James

AU - Taylor, Alexander

PY - 2006/7/25

Y1 - 2006/7/25

N2 - 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.

AB - 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.

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EP - 349

JO - Neurology

JF - Neurology

ER -

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

Abstract

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