Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.

Area of Science:

• Neuroscience
• Genetics
• Neurology

Background:

• Late-onset Tay-Sachs disease (LOTS) is a rare genetic neurodegenerative disorder.
• Cognitive decline is a significant aspect of LOTS, impacting quality of life.
• Identifying reliable outcome measures is crucial for therapeutic development in LOTS.

Purpose of the Study:

• To evaluate neurocognitive function in LOTS patients using a computerized assessment system.
• To determine the clinical relevance of cognitive function as an outcome measure for potential LOTS therapies.

Main Methods:

• Ten adult LOTS patients underwent cognitive function evaluation using the Mindstreams Neurotrax system.
• Six cognitive sub-scores and a Global Cognitive Score (GCS) were recorded.
• A disease-specific severity score was developed to assess various functional domains.

Main Results:

• Most LOTS patients (excluding the two oldest) exhibited deficits in at least three cognitive sub-scores, falling below the normal mean.
• Verbal and executive functions were the most frequently affected cognitive domains.
• The devised severity score correlated with other functional impairments.

Conclusions:

• Cognitive function appears to be a clinically relevant and appropriate outcome measure for LOTS.
• Preliminary findings suggest potential benefits of miglustat on cognitive function in LOTS patients.
• Further research with larger cohorts is warranted to confirm these findings and explore therapeutic interventions.