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Article

Is SGSH heterozygosity a risk factor for early-onset neurodegenerative disease?

Journal of inherited metabolic disease - 1 May 2021

Douglass Meghan L, Beard Helen, Shoubridge Andrew, Nazri Nazzmer, King Barbara, Trim Paul J, Duplock Stephen K, Snel Marten F, Hopwood John J, Hemsley Kim M

Abstract excerpt

Lysosomal dysfunction may be an important factor in the pathogenesis of neurodegenerative disorders such as Parkinson's disease (PD). Heterozygous mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1) have been found in PD patients, and some but not all mutations in other lysosomal enzyme genes, for example, NPC1 and MCOLN1 have been associated with PD. We have examined the behaviour and...

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Identifiers

PMID: 33423317
DOI: 10.1002/jimd.12359

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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