Huntington ’s Disease: New Frontiers in Therapeutics
This article describes and discusses new potential disease-modifying therapies for Huntington ’s disease that are currently in human clinical trials as well as promising new therapies in preclinical development.Recent FindingsMultiple potential disease-modifying therapeutics for HD are in active development, including direct DNA/gene therapies, RNA modulation, and therapies targeted at aberrant downstream pathways.SummaryThe etiology of Huntington ’s disease (HD) is well-known as an abnormally expanded trinucleotide repeat within the huntingtin gene. However, the pathogenesis downstream of the mutant huntingtin gene is...
Source: Current Neurology and Neuroscience Reports - February 14, 2021 Category: Neuroscience Source Type: research

Peripheral Nervous System Manifestations Associated with COVID-19
AbstractPurpose of ReviewThe present review discusses the peripheral nervous system (PNS) manifestations associated with coronavirus disease 2019 (COVID-19).Recent FindingsNerve pain and skeletal muscle injury, Guillain-Barr é syndrome, cranial polyneuritis, neuromuscular junction disorders, neuro-ophthalmological disorders, neurosensory hearing loss, and dysautonomia have been reported as PNS manifestations in patients with COVID-19.SummarySevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes COVID-19. COVID-19 has shown syndromic complexity. Not only does SARS-CoV-2 affect the central nervous system but al...
Source: Current Neurology and Neuroscience Reports - February 14, 2021 Category: Neuroscience Source Type: research

Obstructive Sleep Apnea and the Brain: a Focus on Gray and White Matter Structure
AbstractPurpose of ReviewObstructive sleep apnea is extremely prevalent in the elderly and may precipitate dementia. We review recent advances on gray and white matter structure in obstructive sleep apnea, the impact of treatment, and potential pathological and neurodegenerative processes underlying brain structural changes.Recent FindingsTwo opposite patterns are observed in neuroimaging studies of obstructive sleep apnea. One may indicate cellular damage (gray matter atrophy, higher white matter hyperintensity burden, lower white matter fractional anisotropy, higher water diffusivities), while the other (gray matter hype...
Source: Current Neurology and Neuroscience Reports - February 14, 2021 Category: Neuroscience Source Type: research

Genetic Dystonias: Update on Classification and New Genetic Discoveries
AbstractPurpose of ReviewSince the advent of next-generation sequencing, the number of genes associated with dystonia has been growing exponentially. We provide here a comprehensive review of the latest genetic discoveries in the field of dystonia and discuss how the growing knowledge of biology underlying monogenic dystonias may influence and challenge current classification systems.Recent FindingsPathogenic variants in genes without previously confirmed roles in human disease have been identified in subjects affected by isolated or combined dystonia (KMT2B,VPS16,HPCA,KCTD17,DNAJC12,SLC18A2) and complex dystonia (SQSTM1,I...
Source: Current Neurology and Neuroscience Reports - February 9, 2021 Category: Neuroscience Source Type: research

Primary Progressive Aphasia: Toward a Pathophysiological Synthesis
AbstractPurpose of ReviewThe term primary progressive aphasia (PPA) refers to a diverse group of dementias that present with prominent and early problems with speech and language. They present considerable challenges to clinicians and researchers.Recent FindingsHere, we review critical issues around diagnosis of the three major PPA variants (semantic variant PPA, nonfluent/agrammatic variant PPA, logopenic variant PPA), as well as considering ‘fragmentary’ syndromes. We next consider issues around assessing disease stage, before discussing physiological phenotyping of proteinopathies across the PPA spectrum. We also re...
Source: Current Neurology and Neuroscience Reports - February 4, 2021 Category: Neuroscience Source Type: research