Contribution to a book

Excerpt:Clinical characteristics: VPS13A disease, caused by VPS13A loss-of-function pathogenic variants, is characterized by a spectrum of movement disorders (chorea, dystonia, tics, sometimes parkinsonism); predominant orofacial choreic and dystonic movements and tics (with involuntary tongue protrusion on attempted swallowing, habitual tongue and lip biting resulting in self-mutilation, involuntary vocalizations); dysarthria and dysphagia; psychiatric, cognitive, and behavioral changes ("frontal lobe type"); seizures; and progressive neuromuscular involvement. Huntingtonism (triad of progressive movement disorder and cognitive and behavioral alterations) is a typical presentation. [...]

The modeling and control of fluid flows remain a significant challenge with tremendous potential to advance fields including transportation, energy, and medicine. Effective fluid flow control can lead to drag reduction, enhanced mixing, and noise reduction, among other applications. [...]

Problem solving can be understood as a very active learning strategy which is also being employed in education, even though the mechanisms behind it are poorly understood (Loyens, Kirschner, & Paas, 2012). Insight in problem solving is often heralded as a moment of blinding understanding which generates a great deal of motivation (Liljedahl, 2005). [...]

Segmentation of 3D volumes with a large number of labels, small convoluted structures, and lack of contrast between various structural boundaries is a difficult task. While recent methodological advances across many segmentation tasks are dominated by 3D architectures, currently the strongest performing method for whole brain segmentation is FastSurferCNN, a 2.5D approach. [...]

Inflammasome biology has been implicated in several diseases that exhibit underlying inflammatory processes. Neurodegenerative diseases like Alzheimer's disease, Parkinson's disease, and Amyotrophic lateral sclerosis are known for chronic neuroinflammation in the brain. [...]

This chapter provides an overview on the diagnostic utility of positron emission tomography (PET), single-photon emission computed tomography (SPECT), and functional magnetic resonance imaging (fMRI) in neurology. PET is now providing essential imaging biomarkers for Alzheimer disease (AD), especially for its early detection and differentiation from other neurodegenerative diseases such as frontotemporal dementia (FTD) and dementia with Lewy bodies (DLB). [...]

Parkinson's disease (PD) was first described by the English physician James Parkinson in his work An Essay on the Shaking Palsy in 1817. This correlates well with the beginning of the industrial and chemical revolution in Europe during the late 18th and 19th centuries. [...]

Different regions and structures of both the peripheral and central nervous systems far beyond the substantia nigra pars compacta are affected by the underlying cellular pathology that eventually leads to the clinical onset of Parkinson's disease (PD). Based on the observation of a typical temporal and spatial order of progression with an onset long before the first clinical symptoms appear, Braak and coworkers developed a neuropathological staging model. [...]

Integrated care models have been internationally promoted as a priority in dementia because they have the potential to overcome fragmented health care systems. Supported by a political framework, dementia care networks have been created in Germany in recent years. [...]