Defects in the only human mitochondrial polymerase, the Polymerase Gamma (Polγ) encoded by the POLG gene, cause mitochondriopathies like Alpers Syndrome or MEMSA typically leading to medication resistant fatal seizures. Pathomechanistically, depletion of mitochondrial DNA leads to mitochondrial malfunction. Depending on the mutation and the degree of mitochondrial DNA depletion, age of onset can vary between 30 days and 64 years, but most children affected decease within infancy (overall median age of death 3.5 years). Here we review therapeutic avenues for patients with the two most frequent mutations, Ala467Thr and Trp748Ser. In these patients symptoms appear at a relatively late age (median 14 and 17 years, respectively) and patients also decease at a relatively late age (median 20 and 25 years, respectively) when homozygous for one of these mutations. Proposed treatments may also be beneficial for other mitochondriopathies like Friedreich Ataxia.

This study reports the neurophysiological and behavioral correlates of lexical decision processes in Chinesespeaking dyslexic and non-dyslexic readers in order to understand the neural basis of dyslexia. Eighteen dyslexic children (ages 12~14) and 18 matched control children were tested, and the Event-Related Potentials (ERPs) to real words and pseudo-words were recorded simultaneously with behavioral measures. The results showed that both groups had significantly longer response time for the pseudo-words. Furthermore, overall performance (in terms of lower accuracy and longer response time) was significantly worse among the dyslexic group during the lexical decision task. The differences between the dyslexic and control groups were mainly in the N130, RP, N400, and P600 components. The results suggest that Chinese dyslexic children have semantic processing defects. From a time course point of view, the early stages of processing reflect the Chinese dyslexic children’s morpheme integration and category sorting capacity deficiencies, while the middle stages show their semantic integration difficulties. The later stages of processing show that during semantic processing, decision-making is difficult among these children. Based on Chinese characters and phonetic system similarities, we suggest there are semantic processing defects in Chinese dyslexic children.

We present the case of a patient with a malformation of the inner ear, proposing hypotheses to explain the relative preservation of ocular stability when exist a severe posterior labyrinth malformation.

The paper presents preliminary results of a novel methodology of systematic analysis of ageing markers by healthy middle-age volunteers, and their possible psychological correlates. Ageing markers detected in diploid fibroblasts were divided into three groups representing different types of normal ageing. Psychological processes possibly linked to these groups, especially primitive types of psychological defense strategies, intrinsic religious attitudes, and levels of psychological activation, are discussed. The paper is centered upon four case studies, accompanied by selected experimental data, and preceded by literature review.

Cryptococcal meningoencephalitis in immunocompetent patients is a very rare presentation. The most common clinical manifestations are headache, nausea, vomiting, seizures and meningeal signs. Here we present an 89 year old healthy male presenting with rapid cognitive decline, ataxia, frequent falls and tremor as presenting signs which delayed diagnosis. The purpose of the article is to stimulate direction of rapid cognitive decline work up in the pathway of infectious cause’s especially indolent cryptococcal meningitis.

Huntington’s Disease (HD) is a genetically inherited autosomal dominant neurologic disorder that occurs when an expanded CAG repeat in the Huntingtin Gene (HTT) is passed down to offspring. The disease is characterized by cognitive, behavioral, motor and psychiatric problems. No effective treatment currently exists for HD despite the fact that many clinical trials have been performed on human patients and various studies have been done on animal models. Although the function of HTT and the corresponding Huntingtin protein (Htt) have previously been studied. In this short communication we summarize several original studies published within the last year that describe the use of new technology and techniques to gain a more in depth understanding of the pathogenesis of the disease and to develop potential treatments. These studies include the development and application of new inhibitors of various aspects of Htt pathogenesis, the use of patient-derived induced Pluripotent Cells (iPSCs) and Neuronal Stem Cells (NSCs), the nano particles, and CRISPR-Cas9, a new technology for gene editing.