Mutations in the SACS gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS) or complex clinical phenotypes of Charcot-Marie-Tooth disease (CMT). This study aimed to identify SACS mutations in a Korean CMT cohort with cerebellar ataxia and spasticity by whole exome sequencing (WES). As a result, eight pathogenic SACS mutations in four families were identified as the underlying causes of these complex phenotypes. The prevalence of CMT families with SACS mutations was determined to be 0.3%. All the patients showed sensory, motor, and gait disturbances with increased deep tendon reflexes. Lower limb magnetic resonance imaging (MRI) was performed in four patients and all had fatty replacements. Of note, they all had similar fatty infiltrations between the proximal and distal lower limb muscles, different from the neuromuscular imaging feature in most CMT patients without SACS mutations who had distal dominant fatty involvement. Therefore, these findings were considered a characteristic feature in CMT patients with SACS mutations. Although further studies with more cases are needed, our results highlight lower extremity MRI findings in CMT patients with SACS mutations and broaden the clinical spectrum. We suggest screening for SACS in recessive CMT patients with complex phenotypes of ataxia and spasticity.

Cold-water corals (CWCs) have come under threat from anthropogenic activities such as fishing despite their ecological significance as biodiversity hotspots and as such are being protected in Europe under the EU Habitats Directive with some designated as Special Areas of Conservation (SACs). This study maps the distribution and sources of marine litter in CWC habitats in two SACs on the Irish margin. Data were collected with remotely operated vehicle in the SACs. The density, abundance and composition of litter were assessed, with differences observed between the two sites. The regional morphology influences the distribution of litter in the SACs, with CWC reefs and rock exposures trapping more marine litter. Fishing gear (80.7%) and plastics (55.1%) were commonly found. The observed fisheries-derived litter in the SACs exceed global averages of 10-20% fishing gear, suggesting the SACs appear to offer limited protection to the coral habitats with respect to marine litter.

Electrochemical reduction is a promising technology to treat polluted water contaminated by nitrate and nitrite ions under mild conditions. NO is an important intermediate species and determines selectivity toward different product and rate of whole reaction. However, the most studied NOER electrocatalysts are noble pure metal, which face problems of low utilization and high cost. Herein, by means of density functional theory computations, catalytic performance of 2D TM-Pc sheets (TM = Sc, Ti, V, Cr, Mn, Fe, Co, Ni, Cu, Zn, Nb, Mo, Ru) as NOER catalysts were systematically evaluated. Among all the studied 2D TM-Pc sheets, our results revealed 2D Co-Pc sheet was identified as the best NOER catalyst, for a proper NO absorption energy and its relatively low limiting potential. The final reduction product of NOER is either NH3 at low coverages with energy input of 0.58 eV or N2O at high coverages with no energy barrier. Moreover, 2D Co-Pc sheet can efficiently suppress the competing HER. This study could not only provide a new approach for electrochemical denitrification to resolve environmental pollution but also be useful for valuable ammonia production.