Ataxia telangiectasia

Definition:

Ataxia-telangiectasia (AT) is an autosomal recessive disorder with a birth frequency of about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous telangiectasia, immunodeficiency, and premature aging. The product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and cell cycle control.

References:

[1]. Michael Ristow, et al. Neurodegenerative disorders associated with diabetes mellitus. J Mol Med (Berl). 2004 Aug;82(8):510-29. [Content Brief]

[2]. Ulrich Rass, et al. Defective DNA repair and neurodegenerative disease. Cell. 2007 Sep 21;130(6):991-1004. [Content Brief]

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