Exploring cognitive functions and brain structure in Hereditary Transthyretin amyloidosis using brain MRI and neuropsychological assessment.

Background: Central nervous system symptoms, such as cognitive dysfunction, have been reported in Hereditary Transthyretin Amyloidosis (ATTRv). However, there is a lack of neuroimaging studies investigating structural alterations in the brain related to cognition in ATTRv amyloidosis. This study aimed to investigate cognition and cortical morphology in a cohort of ATTRv patients.

Methods: 29 ATTRv patients and 26 healthy controls completed neuropsychological assessment. 21 of these patients underwent 3T brain MRI, and 23 healthy subjects constituted the control group for MRI. Cortical measures of volume, thickness, fractional anisotropy (FA), and mean diffusivity (MD) were obtained for both groups. Correlation analyses between brain and cognitive measurements were performed.

Results: Patients displayed worse performance than controls in executive functions, verbal and visual memory, visuospatial domains, and language tests. Our study indicated cortical thinning in ATTRv patients in the temporal, occipital, frontal, and parietal areas. The inferior temporal gyrus correlated with verbal memory. Insula and, pars opercularis correlated with both verbal memory and executive function.

Conclusions: Cortical thickness in the inferior temporal gyrus, pars opercularis, and insula were linked to memory and executive function. We observed no correlations between cortical volume measures and cognition. Further investigations are imperative to confirm these findings across different populations.