X-Nico

3 unusual facts about Ataxia Telangiectasia


Ataxia telangiectasia

Ataxia-telangiectasia like disorder (ATLD) is an extremely rare condition, caused by mutation in the hMre11 gene, that could be considered in the differential diagnosis of A-T.

Interestingly, the proteins expressed by the hMre11 (defective in ATLD) and Nbs1 (defective in NBS) genes exist in the cell as a complex, along with a third protein expressed by the hRad50 gene.

Betamethasone

In a randomized controlled trial Betamethasone was shown to reduce some of the ataxia symptoms associated with Ataxia Telangiectasia (A-T) by 28-31%.



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