The development of the human central nervous system is a complex process involving highly coordinated periods of neuronal proliferation, migration and differentiation. Disruptions in these neurodevelopmental processes can result in microcephaly, a neuropathological disorder characterized by a reduction in skull circumference and total brain volume, whereas a failure to maintain neuronal health ...

The development of the human central nervous system is a complex process involving highly coordinated periods of neuronal proliferation, migration and differentiation. Disruptions in these neurodevelopmental processes can result in microcephaly, a neuropathological disorder characterized by a reduction in skull circumference and total brain volume, whereas a failure to maintain neuronal health ...

In this chapter, the authors use the computation, anatomy, and physiology (CAP) principles to consider the impact of common clinical problems on action. They focus on 3 major syndromes: paresis, apraxia, and ataxia. They also review mechanisms that could account for spontaneous recovery, using what is known about the best-studied clinical dysfunction--paresis--and also ataxia. Together, this an...

The nuclear RNA and DNA helicase Sen1 is essential in the yeast Saccharomyces cerevisiae and is required for efficient termination of RNA polymerase II transcription of many short noncoding RNA genes. However, the mechanism of Sen1 function is not understood. We created a plasmid-based genetic system to study yeast Sen1 in vivo. Using this system, we show that (1) the minimal essential region o...

Received: 23.10.2015; Accepted: 30.03.2017 Fig. 1: MRI Brain (T2 Axial) showing typical molar tooth sign Fig. 2: MRI Brain (T2 Axial) showing bat wing appearance of fourth ventricle dysplasia of pontine and medullary structures such as the basis pontis, reticular formation, inferior olivary, dorsa l co lumn and so l i tary t rac t nuclei. Moreover, typical findings are represented by the lack o...

Objectives. The validity of administrative osteoarthritis (OA) diagnosis in British Columbia, Canada, was examined against X-rays, magnetic resonance imaging (MRI), self-report, and the American College of Rheumatology criteria. Methods. During 2002-2005, 171 randomly selected subjects with knee pain aged 40-79 years underwent clinical assessment for OA in the knee, hip, and hands. Their admini...

The scaffold protein X-ray repair cross-complementing 1 (XRCC1) interacts with multiple enzymes involved in DNA base excision repair and single-strand break repair (SSBR) and is important for genetic integrity and normal neurological function. One of the most important interactions of XRCC1 is that with polynucleotide kinase/phosphatase (PNKP), a dual-function DNA kinase/phosphatase that proces...

HIT (histidine triad) proteins, named for a motif related to the sequence HphiHphiHphiphi (phi, a hydrophobic amino acid), are a superfamily of nucleotide hydrolases and transferases, which act on the alpha-phosphate of ribonucleotides, and contain a approximately 30 kDa domain that is typically either a homodimer of approximately 15 kDa polypeptides with two active-sites or an internally, impe...

BACKGROUND Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great ...