Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.
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SourceNeurology, 67, 2, (2006), pp. 346-349
Article / Letter to editor
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SubjectDCN 1: Perception and Action; DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 8: Mitochondrial medicine; IGMD 9: Renal disorder; N4i 1: Pathogenesis and modulation of inflammation; NCEBP 10: Human Movement & Fatigue; NCMLS 3: Growth and differentiation; NCMLS 4: Energy and redox metabolism; ONCOL 3: Translational research; UMCN 3.1: Neuromuscular Development and genetic Disorders; UMCN 5.1: Genetic defects of metabolism; NCEBP 10: Human Movement & Fatigue; NCMLS 3: Growth and differentiation
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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