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 for AARS2 variants (p.Phe131del and p.Ile328Met). Yeast complementation assays indicate that p.Phe131del AARS2 dramatically impairs gene function and that p.Ile328Met AARS2 is a hypomorphic allele. This work expands the phenotypic spectrum of AARS2-associated disease to include ataxia without leukoencephalopathy. PMID: 31705293 [PubMed - as supplied by publisher]
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research

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Source: Frontiers in Physiology - Category: Physiology Source Type: research
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Source: Archives of Iranian Medicine - Category: Middle East Health Authors: Tags: Arch Iran Med Source Type: research
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Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research
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Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
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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.
Source: The Cerebellum - Category: Neurology Source Type: research
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