Article
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
Journal of neurology - 1 Mar 2020
van Os Nienke J H, van Deuren Marcel, Weemaes Corry M R, van Gaalen Judith, Hijdra Helma, Taylor Alexander M R, van de Warrenburg Bart P C, Willemsen Michèl A A P
Abstract excerpt
OBJECTIVE: Patients with classic ataxia-telangiectasia (A-T) generally die in the second or third decade of life. Clinical descriptions of A-T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A-T develop a complex multisystem disorder with a largely unknown extent and severity, we aimed to...
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