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Mashup Score: 7About The Lancet Neurology - 9 day(s) ago
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Mashup Score: 12
This pilot phase trial exceeded its recruitment target, but a definitive trial will require extensive international engagement.
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Mashup Score: 0Association of Pick's disease with the MAPT H2 haplotype - 14 day(s) ago
One of the main players in the pathogenesis of neurodegenerative diseases is the microtubule-associated protein tau. Tau aggregation is involved in Alzheimer’s disease, in which it co-occurs with amyloid pathology, and in primary tauopathies (including frontotemporal dementia, progressive supranuclear palsy, or corticobasal degeneration), in which aggregation can occur in neurons or glial cells. Yet, despite some overlap, these diseases differ strikingly from each other clinically, with a spectrum of symptoms including behavioural changes, executive dysfunction, language or memory impairment, and extrapyramidal features.
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Mashup Score: 15MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study - 14 day(s) ago
The Pick’s disease International Consortium provides an opportunity to do large studies to enhance our understanding of the pathobiology of Pick’s disease. This study shows that, in contrast to the decreased risk of four-repeat tauopathies, the MAPT H2 haplotype is associated with an increased risk of Pick’s disease in people of European ancestry. This finding could inform development of isoform-related therapeutics for tauopathies.
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Mashup Score: 8New gene involved in the pathogenesis of Parkinson's disease - 22 day(s) ago
Parkinson’s disease is defined by the presence of progressive motor dysfunction, but many patients also experience challenging non-motor symptoms, including cognitive impairment in advanced disease stages. No treatment is available to slow or stop disease progression. Our understanding of Parkinson’s disease aetiology is insufficient, and novel insights into pathogenic mechanisms are needed to pave the way for improved diagnostics and new therapeutic strategies. Genetic research has had a major role in elucidating the pathogenesis of Parkinson’s disease on a molecular level.
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Mashup Score: 52RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses - 22 day(s) ago
RAB32 Ser71Arg is a novel genetic risk factor for Parkinson’s disease, with reduced penetrance. The variant was found in individuals with Parkinson’s disease from multiple ethnic groups, with the same haplotype. In-vitro assays show that RAB32 Arg71 activates LRRK2 kinase, which indicates that genetically distinct causes of familial parkinsonism share the same mechanism. The discovery of RAB32 Ser71Arg also suggests several genetically inherited causes of Parkinson’s disease originated to control intracellular immunity.
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Mashup Score: 0New therapeutic avenues for Duchenne muscular dystrophy - 22 day(s) ago
Duchenne muscular dystrophy is a lethal X-linked genetic disorder marked by progressive muscle weakness and degeneration. Mutations in the dystrophin gene lead to an absence of the dystrophin protein, which is essential for muscle cell integrity, resulting in muscle damage and decreased mobility. In addition to treating symptoms, corticosteroids have been used for the past three decades to slow the progression of disease.1 However, despite the benefits of corticosteroids in delaying loss of ambulation and enhancing quality of life, their long-term use is associated with considerable side effects, including weight gain and bone fragility.
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Mashup Score: 6
Among ambulant boys with Duchenne muscular dystrophy, results of the four-stair climb assessment worsened in both groups over the study period; however, the decline was significantly smaller with givinostat than with placebo. The dose of givinostat was reduced after an interim safety analysis, but no new safety signals were reported. An ongoing extension study is evaluating the long-term safety and efficacy of givinostat in patients with Duchenne muscular dystrophy.
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Mashup Score: 1Hans Krebs and neurology - 1 month(s) ago
The biochemist Hans Krebs (1900–81), who won the Nobel Prize for Physiology or Medicine in 1953, is best known for his discoveries of the processes that underpin energy metabolism in most cells. The citric acid cycle, in particular, with its eponymous designation, is familiar to all doctors who have taken a biochemistry course at medical school.
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Mashup Score: 10Unravelling the circuits of movement - 1 month(s) ago
The mechanisms underlying the execution of motor tasks are diverse and complex. These motor programs range from the simple, such as breathing, to the elaborate and dependent on training and experience, such as playing the piano. The brain is involved in selecting and performing motor programs—but how? What happens between an object of interest appearing in the periphery of the retina and it being secured in one’s hand, or steered away from quickly? These issues are covered in Sten Grillner’s new book The Brain in Motion: From Microcircuits to Global Brain Function.
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