Fahr’s disease, or primary familial brain calcification (PFBC), is a rare genetic neurologic disease characterized by abnormal of the basal ganglia, subcortical white matter and cerebellum. Common clinical features include parkinsonism, neuropsychiatric symptoms, cognitive decline. Genes implicated in PDGFB , PDGFRB SLC20A2 XPR1 MYORG JAM2 . We present case 51-year-old woman who developed subac...

Cognitive deficits (CD) in schizophrenia are recalcitrant to treatment as usual. Whilst there has been considerable interest in recent years for evaluating the efficacy of cognitive remediation (CR) programs in schizophrenia at research settings, scant attention has been paid to evaluate the effectiveness of CR programs at everyday clinical practice settings. Method: We evaluated retrospectivel...

Idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disease, characterized by abnormal calcium deposits in of the brain. The affected individuals exhibit movement disorders, and progressive deterioration cognitive psychiatric ability. genetic cause disease mutation one several different genes, SLC20A2, PDGFB, PDGFRB, XPR1 or MYORG, which inheritably sporadically occurs. He...

In the yeast Saccharomyces cerevisiae, mutations in either of two unlinked genes, RAM1 or RAM2, abolish the farnesyltransferase activity responsible for prenylation of Ras proteins and the a-factor mating pheromone. Here we report that the function of RAM1 and RAM2 genes is required for the membrane localization of Ras proteins and a-factor. The RAM2 gene was sequenced and can encode a 38-kDa p...

Abstract Background and Aims Chronic kidney disease (CKD) is an independent cardiovascular risk factor. The initial mechanisms of myocardial remodeling (MR) in CKD are poorly understood. major developmental signaling pathways Notch, Hedgehog, Wnt, Bmp seem to be involved many crucial steps MR (cardiomyocytes survival regeneration, fibrotic response, angiogenesis), while their role due was not p...

Recent findings Mutations in VPS35 were identified as a novel cause of autosomal dominant Parkinson disease using exome sequencing. Next generation sequencing (NGS) was also used to identify PRRT2 mutations as a cause of paroxysmal kinesigenic dyskinesia (DYT10). Using a different technique, that is linkage analysis, mutations in EIF4G1 were implicated as a cause of Parkinson disease and mutati...

River buffalo chromosome 1 (BBU1) is a sub-metacentric chromosome homologous to bovine chromosomes 1 and 27. In this study, we constructed a new framework radiation hybrid (RH) map from BBU1 using BBURH5000 panel adding nine new genes (ADRB3, ATP2C1, COPB2, CRYGS, P2RY1, SLC5A3, SLC20A2, SST, and ZDHHC2) and one microsatellite (CSSM043) to the set of markers previously mapped on BBU1. The new f...