Expanded Clinical Phenotype Spectrum Correlates with Variant Function in SCN2A-Related Disorders

Medicine, Basic Medical Sciences, Medical Laboratory Science, Neurology, Life Sciences, Cell Biology, Genetics,
SCN2A   epilepsy   autism   developmental epileptic encephalopathy   ion channel   genetic variant  

Dysfunctional spectrum associated with clinical phenotype expansion in SCN2A-related disorders This paper was written by scholars including Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J. E. Kaiser, Katherine Paltell, Amanda N. Nili, Jean-Marc L. Dekeyser, Tatiana V. Abramova, Gerry Nesbitt, Shawn ...

Parkinson’s Disease Variant Detection and Disclosure: PD Generation, A North American Study

Medicine, Medical Laboratory Science, Neurology, Life Sciences, Genetics,
Parkinson's disease   genetic testing   genetic counselling   LRRK2   GBA1   clinical trials  

Parkinson’s Disease Variant Detection and Disclosure: Comprehensive Report Background Parkinson’s Disease (PD) is a progressive neurodegenerative disorder primarily characterized by motor dysfunction and non-motor symptoms. Research has shown that at least seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7, VPS35) are directly related to the occurr...

Towards Cascading Genetic Risk in Alzheimer’s Disease

Medicine, Geriatrics, Neurology, Neurosurgery, Life Sciences, Biochemistry, Genetics,
Alzheimer’s disease   APOE   polygenic risk   longitudinal progression   biomarker  

Cascading Pattern in Genetic Risk Research for Alzheimer’s Disease Background and Research Motivation Alzheimer’s disease (AD) is a slowly progressing neurodegenerative disorder characterized by the accumulation of two pathological features: amyloid plaques and phosphorylated tau neurofibrillary tangles. These pathological features typically exist ...

Biallelic Variants in SNUPN Cause a Limb Girdle Muscular Dystrophy with Myofibrillar-like Features

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Genetics,
SNUPN gene   small nuclear ribonucleoproteins   splicing   myopathy   limb girdle muscular dystrophy  

Biallelic Variants in SNUPN Cause a Limb-Girdle Muscular Dystrophy with Myofibrillar Features Academic Background Muscular dystrophies are a complex and heterogeneous group of neuromuscular disorders characterized by progressive muscle weakness and atrophy due to loss of muscle fibers. Limb-Girdle Muscular Dystrophies (LGMD) are a subtype primarily...

Neuronal A2A Receptor Exacerbates Synapse Loss and Memory Deficits in APP/PS1 Mice

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Immunology,
adenosine A2A receptor   Alzheimer's disease   synapse loss   memory deficits   neuroinflammation  

A2A Adenosine Receptor Exacerbates Synaptic Loss and Memory Deficits in APP/PS1 Mice Alzheimer’s disease (AD) is a neurodegenerative disorder associated with progressive cognitive decline, characterized by the deposition of extracellular β-amyloid (Aβ) plaques and the accumulation of hyperphosphorylated tau protein in neurons. Some epidemiological ...

Microglia-specific IL-10 Gene Delivery Inhibits Neuroinflammation and Neurodegeneration in a Mouse Model of Parkinson's Disease

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology,
Microglia   IL-10   Neuroinflammation   Neurodegeneration   Parkinson's Disease  

Parkinson’s Disease Mouse Model: IL-10 Gene Delivery Inhibits Neuroinflammation and Neurodegeneration As research into the pathogenesis of Parkinson’s Disease (PD) deepens, the role of neuroinflammation in PD is gradually being revealed. This study by Simone Bido and his team, published in “Science Translational Medicine”, explores the effects of t...