Dataset Information

Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

ABSTRACT:

Objective

Late-onset GM2 gangliosidosis (LOGG) subtypes late-onset Tay-Sachs (LOTS) and Sandhoff disease (LOSD) are ultra-rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this. We performed a scoping review to ascertain whether imaging and clinical features may differentiate these diseases.

Methods

We examined MEDLINE/non-MEDLINE databases up to May 2022. Articles reporting brain imaging findings in genetically/enzymatically confirmed LOGG, symptom onset at age ≥ 10 years (or evaluated at least once ≥18 years) were included, yielding 170 LOGG patients (LOTS = 127, LOSD = 43) across 68 papers. We compared LOTS versus LOSD and performed regression analyses. Results were corrected for multiple comparisons.

Results

Age of onset was lower in LOTS versus LOSD (17.9 ± 8.2 vs. 23.9 ± 14.4 years, p = 0.017), although disease duration was similar (p = 0.34). LOTS more commonly had psychosis/bipolar symptoms (35.0% vs. 9.30%, p = 0.011) but less frequent swallowing problems (4.10% vs. 18.60%, p = 0.041). Cerebellar atrophy was more common in LOTS (89.0%) versus LOSD (60.5%), p < 0.0001, with more severe atrophy in LOTS (p = 0.0005). Brainstem atrophy was documented only in LOTS (14.2%). Independent predictors of LOTS versus LOSD (odds ratio [95% confidence interval]) included the presence of psychosis/bipolar symptoms (4.95 [1.59-19.52], p = 0.011), no swallowing symptoms (0.16 [0.036-0.64], p = 0.011), and cerebellar atrophy (5.81 [2.10-17.08], p = 0.0009). Lower age of onset (0.96 [0.93-1.00], p = 0.075) and tremor (2.50 [0.94-7.43], p = 0.078) were marginally statistically significant but felt relevant to include in the model.

Interpretation

These data suggest significant differences in symptomatology, disease course, and imaging findings between LOTS and LOSD.

SUBMITTER: Godbole NP

PROVIDER: S-EPMC10791033 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

Godbole Neha P NP Haxton Elizabeth E Rowe Olivia E OE Locascio Joseph J JJ Schmahmann Jeremy D JD Eichler Florian S FS Ratai Eva-Maria EM Stephen Christopher D CD

Annals of clinical and translational neurology 20231127 1

<h4>Objective</h4>Late-onset GM2 gangliosidosis (LOGG) subtypes late-onset Tay-Sachs (LOTS) and Sandhoff disease (LOSD) are ultra-rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this. We performed a scoping review to ascertain whether imaging and clinical features may differentiate these diseases.<h4>Methods</h4>We examined MED ...[more]

PMID: 38009419

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Dataset Information

Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

Objective

Methods

Results

Interpretation

Publications

Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

Similar Datasets

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