Meraida Polak

TL;DR: It is concluded that in this widely studied animal model of human ALS, and in this single human case, motor neuron pathology begins at the distal axon and proceeds in a "dying back" pattern.

TL;DR: A genome screen of nine BSCL families from two geographical clusters revealed mutations in a gene homologous to the murine guanine nucleotide-binding protein, γ3-linked gene (Gng3lg) in all BSCL2-linked families, of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance.

TL;DR: A pedigree with maternally transmitted DM and deafness for mitochondrial DNA mutations was tested and a 10.4 kilobase mtDNA deletion was discovered, demonstrating that DM can be caused by mtDNA mutations and suggests that some of the heterogeneity of this disease results from the novel features of mtDNA genetics.

TL;DR: Evidence of ALS being a complex genetic trait with a polygenic architecture is established and the SNP-based heritability is estimated at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%).

TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.