Management of Pediatric Movement Disorders: Present and Future

Jeffrey B. Russ, Akila M. Nallappan, Amy Robichaux-Viehoever, Seminars in Pediatric Neurology, 2018, ISSN 1071-9091, doi:10.1016/j.spen.2018.02.004.

Management of movement disorders in children is an evolving field. This article outlines the major categories of treatment options for pediatric movement disorders and general guidelines for their use. We review the evidence for existing therapies, which continue to lack large-scale controlled trials to guide treatment decisions. The field continues to rely on extrapolations from adult studies and lower quality evidence such as case reports and case series to guide treatment guidelines and consensus statements. Developments in new pharmaceuticals for rare diseases have begun to provide hope for those cases in which a genetic diagnosis can be made. Advances in surgical therapies such as deep brain stimulation as well as new modes of treatment such as gene therapy, epigenetic modulation, and stem cell therapy hold promise for improving outcomes in both primary and secondary causes of movement disorders. There is a critical need for larger, multicenter, controlled clinical trials to fully evaluate treatments for pediatric movement disorders.

Structure and mechanism of mitochondrial electron transport chain

Runyu Guo, Jinke Gu, Shuai Zong, Meng Wu, Maojun Yang, Biomedical Journal, Available online 26 March 2018, ISSN 2319-4170, doi:10.1016/j.bj.2017.12.001.

For the first time, this work provided solid evidence for the existence of megacomplex, observed the possible compartment of Q pool, and connected the organization of respiratory chain more tightly with the shape of cristae. Since this is the first structure of human respirasome, previously reported mitochondrial disease related mutations can all be mapped into our structure. Doubtlessly, this is a great step forward into conquering many severe neurodegenerative diseases, including Alzheimer's syndrome, Parkinson's disease, multiple sclerosis, friedreich's ataxia, Amyotrophic lateral sclerosis, etc.

Dysfunction in the mitochondrial Fe-S assembly machinery leads to formation of the chemoresistant truncated VDAC1 isoform without HIF-1α activation

Ferecatu I, Canal F, Fabbri L, Mazure NM, Bouton C, Golinelli-Cohen M-P (2018). PLoS ONE 13(3): e0194782. doi:10.1371/journal.pone.0194782

We show that hypoxia promotes the downregulation of several proteins (ISCU, NFS1, FXN) involved in the early steps of mitochondrial Fe-S cluster biogenesis.

Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia

Fabrice Giraudet, Perrine Charles, Thierry Mom, Odile Boespflug-Tanguy, Alexandra Dürr, Paul Deltenre, Paul Avan, Clinical Neurophysiology, Available online 27 March 2018, ISSN 1388-2457, doi:10.1016/j.clinph.2018.03.005.

In FRDA, the assumption of stationarity used for extracting standard auditory brainstem-evoked responsesis invalid. The preservation of early split-ABRs indicates no short-term dyssynchrony of action potentials. A large decrease in conduction velocity along auditory neurons occurs within seconds, attributed to fast energetic failure.