Alanyl-tRNA Synthetase 2 ( AARS2 )-Related Ataxia Without Leukoencephalopathy

We present a sibling pair: one with cerebellar ataxia and one with vision loss and cognitive impairment in addition to ataxia. Neither shows evidence of leukoencephalopathy on MRI imaging. Exome sequencing revealed that both siblings are compound heterozygous forAARS2 variants (p.Phe131del and p.Ile328Met). Yeast complementation assays indicate that p.Phe131delAARS2 dramatically impairs gene function and that p.Ile328MetAARS2 is a hypomorphic allele. This work expands the phenotypic spectrum ofAARS2-associated disease to include ataxia without leukoencephalopathy.

http://link.springer.com/10.1007/s12311-019-01080-y

Source: The Cerebellum - November 8, 2019 Category: Neurology Source Type: research