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Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes

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Daykin, Emily C., Ryan, Emory, Sidransky, Ellen·2021·Molecular Genetics and Metabolism
DOI 10.1016/j.ymgme.2021.01.002PMC PMC7884077
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Abstract

Gaucher disease (GD), resulting from biallelic mutations in the gene GBA1, is a monogenic recessively inherited Mendelian disorder with a wide range of phenotypic presentations. The more severe forms of the disease, acute neuronopathic GD (GD2) and chronic neuronopathic GD (GD3), also have a continuum of disease severity with an overlap in manifestations and limited genotype-phenotype correlation. In very young patients, assigning a definitive diagnosis can sometimes be challenging. Several recent studies highlight specific features of neuronopathic GD that may provide diagnostic clues. Distinguishing between the different GD types has important therapeutic implications. Currently there are limited treatment options specifically for neuronopathic GD due to the difficulty in delivering therapies across the blood-brain barrier. In this work, we present both classic and newly appreciated aspects of the Gaucher phenotype that can aid in discriminating between acute and chronic neuronopathic GD, and highlight the continuing therapeutic challenges.

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  • In animal stroke models, neuronal and microglial lysosomal functions are impaired by hypoxia, and induction of autophagy by rapamycin improves stroke outcomes by preventing neuronal death and improving microglial phagocytosis of damaged cell debris.

    “For example, in animal stroke models, neuronal and microglial lysosomal functions are impaired by hypoxia, and induction of autophagy by rapamycin, an mTOR inhibitor, improves stroke outcomes by both preventing neuronal death and improving microglial phagocytosis of damaged cell debris.45,46”

    From The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases (2025) · cites this paper as [45]

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Cited by

Sorted by citations

Authors
Daykin, E. C., Ryan, E., & Sidransky, E.
Affiliations
National Institutes of Health (US)
Corresponding author
Sidransky, Ellen
ORCID
Venue
Molecular Genetics and Metabolism
Publisher
Elsevier BV
Published
2021-02
Volume
132
Issue
2
Pages
49-58
ISSN
1096-7192 (ISSN-L)
DOI
10.1016/j.ymgme.2021.01.002
PMC
PMC7884077
OpenAlex
W3119730359
Cited by
77
References
2
Citations by year
2026: 8 · 2025: 28 · 2024: 16 · 2023: 15 · 2022: 6 · 2021: 3
FWCI
1.33
Type
journal article
Language
en
Open access
Licence
Locations
  • Molecular Genetics and Metabolism (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Human Genome Research Institute
Topics
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
Gaucher disease, neuronopathic Gaucher disease, GBA mutations, genotype-phenotype correlation, diagnostic criteria, blood-brain barrier, enzyme replacement therapy
MeSH terms
Blood-Brain Barrier, Gaucher Disease, Glucosylceramidase, Humans, Phenotype, Severity of Illness Index, Genetic Association Studies

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