Article
Neuropathology in classical and variant ataxia-telangiectasia.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Jun 2012
Verhagen Mijke M M, Martin Jean-Jacques, van Deuren Marcel, Ceuterick-de Groote Chantal, Weemaes Corry M R, Kremer Berry H P H, Taylor Malcolm A R, Willemsen Michèl A A P, Lammens Martin
Abstract excerpt
Ataxia-telangiectasia (A-T) is classically characterized by progressive neurodegeneration, oculocutaneous telangiectasia, immunodeficiency and elevated α-fetoprotein levels. Some patients, classified as variant A-T, exhibit a milder clinical course. In the latter patients extrapyramidal symptoms, instead of cerebellar ataxia, tend to be the dominating feature and other classical disease hallmarks, like...
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