Catharine E. Krebs

TL;DR: It is concluded that the SYNJ1 mutation identified here is responsible for the EOP phenotype seen in patients probably due to deficiencies in its phosphatase activity and consequent impairment of its synaptic functions, and suggests phosphoinositide metabolism as a novel therapeutic target for Parkinsonism.

TL;DR: For the first time, the genetic variability of SCN4A is associated with the development of essential tremor, which adds ET to the growing list of neurological channelopathies.

TL;DR: In this article, a disease-segregating mutation (p.Gly171Ala), absent in normal population, was identified in the SORT1 gene, which was shown not only to impair the expression of its encoding protein sortilin but also the mRNA levels of its binding partner p75 neurotrophin receptor that is known to be implicated in brain injury, neuronal apoptosis, and neurotransmission.

TL;DR: The latest genetic discoveries made by the use of NGS technologies are summarized and purpose future directions and challenges to truly understand the pathophysiology of MDs are summarized.

TL;DR: It is concluded that the COL 6A2 p.Asp215Asn mutation is likely to be responsible for PME in this family; however, additional studies are warranted to further establish the pathogenic role of both COL6A2 and the extracellular proteolysis system in the pathogenesis of PME.