title: Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.
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.
authors.affiliation: Department of Neurology, Máxima Medical Centre, Veldhoven, The Netherlands. j.hiel@mmc.nl
authors.forename: J A P
authors.initials: JA
authors.lastname: Hiel
authors.forename: B G M
authors.initials: BG
authors.lastname: van Engelen
authors.forename: C M R
authors.initials: CM
authors.lastname: Weemaes
authors.forename: A
authors.initials: A
authors.lastname: Broeks
authors.forename: A
authors.initials: A
authors.lastname: Verrips
authors.forename: H
authors.initials: H
authors.lastname: ter Laak
authors.forename: H M
authors.initials: HM
authors.lastname: Vingerhoets
authors.forename: L P W
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: M
authors.initials: M
authors.lastname: Lammens
authors.forename: F J M
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: J I
authors.initials: JI
authors.lastname: Last
authors.forename: A M R
authors.initials: AM
authors.lastname: Taylor
mesh_terms: D000328:Adult; D001260:Ataxia Telangiectasia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases