Use of Machine Learning Classifiers based on Visual Metrics in Children with Acquired Demyelinating Syndromes

Multiple Sclerosis (MS), an inflammatory degenerative disease and the visual pathway is a key target in the search for a reliable and easily obtainable diagnostic biomarker that can aid the diagnosis. The objective of this study was to investigate the utility of machine learning (ML) based on optical coherence tomography (OCT) features to identify children with MS and other ADS. In this cross-sectional study a total of 512 eyes from 69 (neyes = 138) healthy controls and 187 (neyes = 374) children with ADS were included. Random forest classifier with recursive feature elimination identified MS with 80% accuracy. A set of eight retinal features were identified as the most important in this classification. In conclusion, this study demonstrated that ML classifiers can be used to diagnose MS in children based on structural OCT measures alone with high accuracy, sensitivity and specificity.M.Sc

Investigation of the effects of continuous theta burst transcranial magnetic stimulation in patients with migraine

Objective: Repetitive transcranial magnetic stimulation (rTMS) allows the non-invasive investigation of synaptic plasticity. Theta-burst stimulation (TBS) is a modified form of rTMS that induces synaptic plasticity. Our objective was to evaluate cortical excitability using paired-pulse transcranial magnetic stimulation (ppTMS) before and after continuous TBS (cTBS) in healthy controls and patients with migraine

PLA2G6 MUTATIONS ASSOCIATED WITH A CONTINUOUS CLINICAL SPECTRUM FROM NEUROAXONAL DYSTROPHY TO HEREDITARY SPASTIC PARAPLEGIA

PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are two groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in three families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial MRI. The Moroccan patient was homozygous for a novel missense c.1786C>T, p.Leu596Phe variant and the Romanian patient had two novel mutations; c.1898C>T, p.Ala633Val and c.1765_1768del, p.Ser589ThrfsTer76. Both of these patients conformed better to childhood onset PLAN with the age of onset at four and seven years, respectively. Interestingly, all identified mutations were affecting the highly conserved patatin-like phospholipase domain of the PLA2G6 protein