Ataxia telangiectasia;
Louis-Bar syndrome;
Boder-Sedgwick syndrome

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.

Immune system disease; Nervous system disease

nt06506 Double-strand break repair

(AT) ATM [HSA:472] [KO:K04728]

Affected region: cerebellum
Microscopic lesion: neuronal degeneration, particularly the loss of cerebellar granule and Purkinje cells

PMID:17889645

PMID:15175861