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The interplay between the immune system, sleep dysfunction and cognitive impairment participates in the progression of disability in multiple sclerosis (MS). Our aim was to identify molecular pathways and B cell associated with separate components of MS disability. Benign MS, non-benign MS patients and healthy controls were recruited. Patients underwent polysomnography and cognitive studies. Microarray and bioinformatics analysis performed using peripheral blood mononuclear cell samples identified B cell-associated genes with the most significantly altered expression. Expression levels of these genes were validated by real-time PCR and peripheral blood cell subsets were examined by flow cytometry. Putative correlations among clinical and laboratory parameters were investigated by correlation network analysis. Sleep and cognitive functions were equally impaired in BMS and NBMS. BMS patients showed significantly reduced memory B cell and increased regulatory B cell percentages than NBMS patients. Among genes that were selected by bioinformatics, levels of BLK, BLNK, BANK1, FCRL2, TGFB1 and KCNS3 genes were significantly different among study subgroups. Correlation network analysis showed associations among physical-cognitive disability and sleep dysfunction measures of MS versus expression levels of selected genes. BMS and NBMS differ by physical disability but not cognitive and sleep dysfunction. Different components of disability in MS are associated with peripheral blood B cell ratios and B cell related gene expression levels. Thus, it is likely that altered B cell functions participate in the progression of disability in MS.

Autosomal dominant lateral temporal lobe epilepsy (ADLTE) is an autosomal dominant epileptic syndrome characterized by focal seizures with auditory or aphasic symptoms. The same phenotype is also observed in a sporadic form of lateral temporal lobe epilepsy (LTLE), namely idiopathic partial epilepsy with auditory features (IPEAF). Heterozygous mutations in LGI1 account for up to 50% of ADLTE families and only rarely observed in IPEAF cases. In this study, we analysed a cohort of 26 individuals with LTLE diagnosed according to the following criteria: focal epilepsy with auditory aura and absence of cerebral lesions on brain MRI. All patients underwent clinical, neuroradiological and electroencephalography examinations and afterwards they were screened for mutations in LGI1 gene. The single LGI1 mutation identified in this study is a novel missense variant (NM_005097.2: c.1013T>C; p.Phe338Ser) observed de novo in a sporadic patient. This is the first study involving clinical analysis of a LTLE cohort from Turkey and genetic contribution of LGI1 to ADLTE phenotype. Identification of rare LGI1 gene mutations in sporadic cases supports diagnosis as ADTLE and draws attention to potential familial clustering of ADTLE in suggestive generations, which is especially important for genetic counselling. (C) 2015 Elsevier B.V. All rights reserved.

Objective We previously found by performing sensory-motor integration (SMI) studies on sedentary subjects that there were less short latency afferent inhibition and higher facilitation after basketball shooting exercises which partially subsided after exercising for five days. We herein present the effect of brain-derived neurotrophic factor (BDNF) val66met polymorphisms on this motor learning process. Method Two groups of healthy sedentary subjects [16 Val66Val (group I); 10 Val66Met and 1 Met66Met (group 2)] performed standardized 5-day basketball shooting exercises under supervision. SMI studies were done before and after the exercise on day 1 (T0, T1) and after the exercise on day 5 (T2). SMI was studied by electrical median nerve stimulation at the wrist followed by transcranial magnetic stimulation (TMS) of the contralateral motor cortex. Recordings were made from thenar and flexor carpi radialis (FCR) muscles. Inter-stimulus intervals between the electrical stimulus and TMS were 20, 35, 50, 65, 80, 100 and 200 ms. Results Group 2 had significantly more reduced short afferent inhibition and increased facilitation at T2. Conclusion In group 2, persistently increased excitability in the sensory-motor cortex on day five might be the reflection of a defect in changing the learning process into a different mechanism.