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Publication Detail
GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy
Abstract
© 2018 American Neurological Association. We describe a consanguineous family in which two brothers were affected by childhood onset spastic ataxia with optic atrophy and loss of motor and language skills. Through a combination of homozygosity mapping and whole-genome sequencing, we identified a homozygous copy number variant in GLS as the cause. The duplication leads to complete knockout of GLS expression. GLS encodes the brain- and kidney-specific enzyme glutaminase, which hydrolyzes glutamine for the production of glutamate, the most abundant central nervous system neurotransmitter. This is the first report implicating GLS loss of function in human disease.
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Clinical and Movement Neurosciences
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