Ataxia telangiectasia (AT)
General description
Ataxia telangiectasia (AT) is an autosomal recessive disorder caused by mutations in the ATM gene, which plays a major role in DNA repair.
Clinical manifestations of AT include immunodeficiency, cerebellar ataxia, telangiectasia, progeria, athetosis, and an increased risk of malignancies such as lymphoma or leukemia.
Typically, cerebellar ataxia appears when the patient starts walking, and patients become wheelchair-bound by the age of 10.
References
- Cocozza, Sirio, et al. "Conventional MRI findings in hereditary degenerative ataxias: a pictorial review." Neuroradiology 63.7 (2021): 983-999.
Cerebellar atrophy
-
CerebellumVermis
MRI shows progressive cerebellar atrophy with significant vermal involvement.
Cerebral microbleedings
-
CerebrumCerebral white matter
Supratentorial white matter abnormalities are observed, including hyperintense signal on T2*WI, reflecting the presence of hemosiderin deposits and telangiectasias, as well as hypointense signal on SWI. T2WI hyperintensities in the white matter may represent microinfarctions.