Neurological effects of glucocerebrosidase gene mutations
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2019-03Author
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<jats:p>The association between Gaucher disease (<jats:styled-content style="fixed-case">GD</jats:styled-content>) and Parkinson disease (<jats:styled-content style="fixed-case">PD</jats:styled-content>) has been described for almost two decades. In the biallelic state (homozygous or compound heterozygous) mutations in the glucocerebrosidase gene (<jats:styled-content style="fixed-case">GBA</jats:styled-content>) may cause <jats:styled-content style="fixed-case">GD</jats:styled-content>, in which glucosylceramide, the sphingolipid substrate of the glucocerebrosidase enzyme (<jats:styled-content style="fixed-case">GC</jats:styled-content>ase), accumulates in visceral organs leading to a number of clinical phenotypes. In the biallelic or heterozygous state, <jats:styled-content style="fixed-case">GBA</jats:styled-content> mutations increase the risk for <jats:styled-content style="fixed-case">PD</jats:styled-content>. Mutations of the <jats:styled-content style="fixed-case">GBA</jats:styled-content> allele are the most significant genetic risk factor for idiopathic <jats:styled-content style="fixed-case">PD</jats:styled-content>, found in 5%–20% of idiopathic <jats:styled-content style="fixed-case">PD</jats:styled-content> cases depending on ethnicity. The neurological consequences of <jats:styled-content style="fixed-case">GBA</jats:styled-content> mutations are reviewed and the proposition that <jats:styled-content style="fixed-case">GBA</jats:styled-content> mutations result in a disparate but connected range of clinically and pathologically related neurological features is discussed. The literature relating to the clinical, biochemical and genetic basis of <jats:styled-content style="fixed-case">GBA PD</jats:styled-content>, type 1 GD and neuronopathic GD is considered highlighting commonalities and distinctions between them. The evidence for a unifying disease mechanism is considered.</jats:p>
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