SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand the disease mechanism and improve therapeutic decision-making. We aggregated genetic and clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) SLC6A1 variants and functional data for 184 variants (14.

Fibrocartilaginous embolization to the spinal cord: serial MR imaging monitoring and pathologic study.

We report the serial MR imaging and neuropathologic findings in a patient with fibrocartilaginous embolism to the spinal cord, presumptively originating from vertebral body endplates. Extensive increased T2 signal intensity, minimal contrast enhancing foci, concomitant vertebral body bone marrow infarction, and terminal cord hemorrhagic necrosis were the main MR imaging features. Pathologic examination of the cord demonstrated arteriolar occlusions by chondrocytic thrombi resulting in hemorrhagic necrosis.