Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases (RNDs). Innovative therapies such as gene therapy can improve patients' quality of life but come with academic, regulatory, and financial challenges. Registries can play a pivotal role in generating evidence to tackle these, but...
Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) and Alzheimer's disease neuropathologic change (ADNC) are each associated with substantial cognitive impairment in aging populations. However, the prevalence of LATE-NC across the full range of ADNC remains uncertain. To address this knowledge gap, neuropathologic...
Friedreich's ataxia (FRDA) is the most prevalent inherited ataxia, affecting one in every 50,000 individuals in the United States. This hereditary condition is caused by an abnormal GAA trinucleotide repeat expansion within the first intron of the frataxin gene resulting in decreased levels of the frataxin protein (FXN). Insufficient cellular frata...
Stroke is a leading cause of long-term disability, affecting thousands of individuals annually and significantly impairing their mobility, independence, and quality of life. Traditional methods for assessing motor impairments are often costly and invasive, creating substantial barriers to effective rehabilitation. This thesis explores the use of De...
The Hand Tremor Stabilizer project represents a significant advancement in assistive device technology, aimed at improving the lives of individuals affected by hand tremors due to conditions such as essential tremor or Parkinson's disease. Throughout the design process, our team engaged in a comprehensive approach that included rapid prototyping, i...
Background and objectivesThe aim of this study was to compare 2 large clinicopathologic cohorts of participants aged 90+ and to determine whether the association between neuropathologic burden and dementia in these older groups differs substantially from those seen in younger-old adults.MethodsAutopsied participants from The 90+ Study and Adult Cha...
BACKGROUND: In 2020, a novel neurologic disease was observed in juvenile Quarter Horses (QHs) in North America. It was unknown if this was an aberrant manifestation of another previously described neurological disorder in foals, such as equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM). HYPOTHESIS/OBJECTIVES: To descri...
Neurological disorders are often debilitating conditions with no cure. The majority of current therapies are palliative rather than disease-modifying; therefore, new strategies for treating neurological disorders are greatly needed. mRNA-based therapeutics have great potential for treating such neurological disorders; however, challenges with deliv...
Acknowledgements: This Delphi study stems from a funded PhD position at the University of Groningen. The authors would like to thank Parkinson’s UK and Parkinson Vereniging for their collaboration in finding potential interested participants. / Funder: Rijksuniversiteit Groningen; doi: http://dx.doi.org/10.13039/501100001721 / BACKGROUND: Most neur...
Peer reviewed: True / Background Functional neurological disorder (FND) is characterised by neurological symptoms, such as seizures and abnormal movements. Despite its significance to patients, the clinical features of chronic pain in people with FND, and of FND in people with chronic pain, have not been comprehensively studied. Methods We systemat...
