Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is caused by pathogenic sequence variants in C19orf12 . Autosomal recessive inheritance has been demonstrated. We present evidence of autosomal dominant MPAN and propose a mechanism to explain these cases. Methods Two large families with apparently dominant MPAN were investigated; additional singleton cases of MPAN were identified. Gene sequencing and multiplex ligation‐dependent probe amplification were used to characterize the causative sequence variants in C19orf12 . Post‐mortem brain from affected subjects was examined. Results In two multi‐generation non‐consanguineous families, we identified different nonsense sequence variations in C19orf12 that segregate with the MPAN phenotype. Brain pathology was similar to that of autosomal recessive MPAN. We additionally identified a preponderance of cases with single heterozygous pathogenic sequence variants, including two with de novo changes. Conclusions We present three lines of clinical evidence to demonstrate that MPAN can manifest as a result of only one pathogenic C19orf12 sequence variant. We propose that truncated C19orf12 proteins, resulting from nonsense variants in the final exon in our autosomal dominant cohort, impair function of the normal protein produced from the non‐mutated allele via a dominant negative mechanism and cause loss of function. These findings impact the clinical diagnostic evaluation and counseling.

Alternative formulations of levodopa appear to be promising especially to help with the motor fluctuations either by providing sustained benefits with controlled released formulations or ameliorate sudden OFF by formulations such as inhaled levodopa. Several different medications affecting non-dopaminergic pathways are being evaluated which may aide levodopa. As the understanding of the disease grows further, numerous novel neuroprotective or disease modifying therapies have been suggested. This along with development of medications to treat various non-motor symptoms will help improve quality of life of patients with PD.

Background Corona Virus Disease 2019 (COVID-19) cases continue to increase around the World. Typical symptoms include fever and respiratory illness but a constellation of multisystem involvement including central nervous system (CNS) and peripheral nervous system (PNS) have been reported with COVID-19. Acute ischemic strokes (AIS) have also been reported as a complication. Methodology We analyzed patient characteristics, clinical outcomes, laboratory results and imaging results of four patients with COVID-19 who had AIS. Results All four patients were =< 60 years , had hypoxemic respiratory failure secondary to pneumonia, elevated D-dimer and inflammatory markers. Conclusion Ischemic strokes are known complications in patients with severe COVID-19.

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Movement amplitude setting is affected early in Parkinson’s disease (PD), clinically manifesting as bradykinesia. Our objective was to determine if amplitude setting of upper limb bimanual movements and bipedal gait are similarly modulated in PD. 27 PD and 24 control participants were enrolled. Participants performed a bimanual anti-phase finger tapping task wearing gloves with joint angular sensors, and an instrumented gait assessment. Participants performed normal and fast paced assessments to vary motor load. PD participants were evaluated OFF (PD-OFF) and ON (PD-ON) levodopa. PD-OFF participants had smaller tap amplitude, and greater tap amplitude variability than controls in the more affected hands (all p < 0.05). Tap amplitude and stride length (p = 0.030) were correlated in PD-OFF. Tap amplitude was also correlated with motor UPDRS (p < 0.005) and bradykinesia motor (p < 0.05) and ADL (p < 0.005) UPDRS subscores. The relative amount of improvement in tap amplitude and stride length with levodopa was correlated. In PD, upper limb and gait amplitude setting are similarly scaled with motor demand and dopamine supplementation. This suggests these automated motor functions are subserved by common functional networks.

The therapeutic applications of botulinum toxin (BoNT) have grown manifold since its initial approval in 1989 by the U.S. Food and Drug Administration for the treatment of strabismus, blepharospasm, and other facial spasms. Although it is the most potent biologic toxin known to man, long-term studies have established its safety in the treatment of a variety of neurologic and nonneurologic disorders. Despite a paucity of randomized controlled trials, BoNT has been found to be beneficial in treating a variety of tremors and tics when used by clinicians skilled in the administration of the drug for these hyperkinetic movement disorders. Botulinum toxin injections can provide meaningful improvement in patients with localized tremors and tics; in some cases, they may be an alternative to other treatments with more undesirable adverse effects.

To explore effectiveness of alternative methods of neurology resident electroencephalogram (EEG) learning during COVID-19 pandemic due to social distancing requirements which caused disruption of traditional inperson teaching. Methods Virtual EEG learning was instituted using Zoom platform. Residents participated in live, interactive virtual sessions for eight weeks. A pre-test and post-test were administered and a survey was performed at the end of the project. Results Based on pre-test and post-test results, there was a significant improvement on average resident test scores. On the survey, 100% agreed (81.8% strongly agreed, 18.2% agreed) that virtual EEG sessions provided a conducive learning environment with easy access while preserving effective communication with the instructor. When compared to traditional EEG reading, 100% agreed (81.8% strongly agreed and 18.2% agreed) that virtual sessions were more accessible, 72.7% agreed (54.5% strongly agreed, 18.2% agreed) that they were more interactive; 81.9% (45.5% strongly agreed, 36.4% agreed) felt more engaged and 90.9% agreed (81.8% strongly agreed, 9.1% agreed) that they were able to attend more sessions. Hundred percent residents (72.7% strongly agreed, 27.3% agreed) felt more confident in their EEG reading and all (81.8% strongly agreed and 18.2% agreed) would sign up for more virtual learning courses. Conclusions Virtual EEG education is an efficient method of resident education with improved ease of access while maintaining interactive discussion leading to increased confidence in learners. It should be considered even after resolution of the need for social distancing and its applications in other fields of learning should be further explored.

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