• Ann Clin Transl Neurol · Feb 2018

    GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

    • David S Lynch, Viorica Chelban, Jana Vandrovcova, Alan Pittman, Nicholas W Wood, and Henry Houlden.
    • Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom.
    • Ann Clin Transl Neurol. 2018 Feb 1; 5 (2): 216-221.

    AbstractWe 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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