GLA Variant Findings in Human Participants with Suspected Demyelinating Disease

Among 584 participants screened for Fabry disease, 15 (2.57%) had reportable GLA sequence findings. Twelve carried a benign allele, while two women had pathogenic variants; however, neither fulfilled the McDonald criteria for MS diagnosis, and final assessments did not support MS in these cases. Four participants with confirmed MS had non-diagnostic variants.

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Source: Read original source (PMID 42815167)

This plain-English summary was written by AI from a published abstract and may contain errors. It is not medical advice. Read the original study and talk to your MS team before making decisions about treatment.

Why it matters

This study highlights the low frequency of pathogenic variants among individuals suspected of having demyelinating diseases, suggesting limited diagnostic utility of GLA testing in such scenarios.

What this does not prove

The low frequency of pathogenic variants indicates insufficient support for GLA testing based solely on suspected demyelination, and the exploratory comparisons were unadjusted for multiple comparisons.

Next milestone

No next milestone was established from the available source.

Study facts

Study design: Observational
Participants / samples: 584 · participants
Randomised: No
Controlled: Not reported
Primary endpoint met: No
Relevant MS type: Not reported
Publication date: 2026-09-25
Evidence reviewed: Abstract only
Regulatory approval: Not reported
Research areas: Other

Original sources

Primary evidenceGLA variant screening in patients with suspected demyelinating disease: Diagnostic yield and implications for the differential diagnosis of multiple sclerosis. ↗DOI: 10.1016/j.msard.2026.107942

Supporting passages (11)

study phaseThe diagnostic yield of GLA testing for atypical demyelinating presentations remains uncertain and depends on variant classification.

study designThis retrospective, single-center cohort included patients screened for Fabry disease at a demyelinating diseases clinic from January 2016 to January 2026.

subjectsAmong 584 participants, 15 had reportable GLA sequence findings (2.57%; 95% CI, 1.56-4.19).

sample sizeAmong 584 participants, 15 had reportable GLA sequence findings (2.57%; 95% CI, 1.56-4.19).

sample size basisAmong 584 participants, 15 had reportable GLA sequence findings (2.57%; 95% CI, 1.56-4.19).

randomizedMETHODS: This retrospective, single-center cohort included patients screened for Fabry disease at a demyelinating diseases clinic from January 2016 to January 2026.

primary endpoint metNeither fulfilled McDonald criteria, and final neurological assessment did not support MS.

research categoriesThe observed low frequency of pathogenic variants provides little support for testing based solely on suspected demyelinating disease.

findingsTwelve carried p.Asp313Tyr (D313Y), a benign or likely benign pseudodeficiency allele.

limitationsPeriventricular and corpus callosum lesions were nominally associated with reportable GLA findings (crude odds ratios, 3.61 and 3.09; P = 0.038 and 0.040, respectively), but estimates were imprecise and unadjusted for multiple comparisons.

publication datePublication date: 2026-09-25

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