Quantification of Neural Activity in FMR1 Premutation Carriers during a Dynamic Sway Task using Source Localization

Area of Science:

• Neurogenetics
• Neurodegenerative Diseases
• Biomedical Engineering

Background:

• Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a genetic neurodegenerative disorder.
• It affects carriers of the FMR1 premutation, but not all carriers develop the condition, and onset age varies.
• Understanding disease progression in FXTAS is crucial.

Purpose of the Study:

• To investigate potential differences in neural activity and motor control between FMR1 premutation carriers and controls.
• To explore the relationship between sway parameters and EEG activity in FXTAS carriers.

Main Methods:

• Eight FXTAS carriers and five age/sex/handedness-matched controls performed a sway task on a force platform.
• Simultaneous electroencephalography (EEG) was recorded.
• Sway parameters were analyzed and matched to EEG activity using distributed source analysis.

Main Results:

• Initial analysis suggested potential differences in neural activity in specific brain regions (anterior lobe, right posterior lobe, right superior parietal lobule, right parietal lobe) between groups.
• These observed differences did not remain statistically significant after correction for multiple comparisons.

Conclusions:

• This study did not find significant differences in neural activity or sway control between FMR1 premutation carriers and controls.
• Further research with larger cohorts may be necessary to elucidate the pathophysiology and progression of FXTAS.