An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies.

Background: LAMA2-related dystrophies (LAMA2-RDs) represent one of the most common forms of congenital muscular dystrophy and have historically been classified into two subtypes: complete or partial deficiency of laminin-211 (merosin). Patients with LAMA2-RD with the typical congenital phenotype manifest severe muscle weakness, delayed motor milestones, joint contractures, failure to thrive, and progressive respiratory insufficiency.

Objective: While a comprehensive prospective natural history study has been performed in LAMA2-RD patients over 5 years of age, the early natural history of patients with LAMA2-RD 5 years and younger has not been comprehensively characterized.

H-MRS neurometabolites and associations with neurite microstructures and cognitive functions in amnestic mild cognitive impairment.

Alzheimer's disease (AD) pathogenesis is associated with alterations in neurometabolites and cortical microstructure. However, our understanding of alterations in neurochemicals in the prefrontal cortex and their relationship with changes in cortical microstructure in AD remains unclear. Here, we studied the levels of neurometabolites in the left dorsolateral prefrontal cortex (DLPFC) in healthy older adults and patients with amnestic Mild Cognitive Impairments (aMCI) using single-voxel proton-magnetic resonance spectroscopy (H-MRS).