Stephanie Barsoum

Abstract Loss-of-function mutations in GNAL have been linked to an adult-onset, isolated dystonia that is largely indistinguishable from idiopathic dystonia. GNAL encodes Gαolf, a heterotrimeric G-protein α subunit with a defined molecular function to increase the production of the second messenger cAMP. Gαolf is abundant in the striatum, and is the only stimulatory G-protein in many cell types of the striatum.

Abstract Despite the presence of significant Alzheimer's disease (AD) pathology, characterized by amyloid β (Aβ) plaques and phosphorylated tau (pTau) tangles, some cognitively normal elderly individuals do not inevitably develop dementia. These findings give rise to the notion of cognitive 'resilience', suggesting maintained cognitive function despite the presence of AD neuropathology, highlighting the influence of factors beyond classical pathology.

AD axial diffusivity ant anterior dMRI diffusion MRI DTI diffusion tensor imaging DWI diffusion-weighted images FA fractional anisotropy FDR false discovery rate G gyrus GM Gray matter HCP-A Human Connectome Project-Aging ICV intracranial volume inf inferior MAP mean apparent propagator MoCA Montreal Cognitive Assessment NG non-Gaussianity PA propagator anisotropy post posterior PSM picture sequence memory RAVLT Rey auditory verbal learning test RD radial diffusivity ROI region of interest...