Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.
case_series · Level IV
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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.
Medical subject headings
- Ataxia Telangiectasia
- Cell Cycle Proteins
- DNA-Binding Proteins
- Muscular Atrophy, Spinal
- Protein Serine-Threonine Kinases
- Tumor Suppressor Proteins