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Mashup Score: 8New gene involved in the pathogenesis of Parkinson's disease - 1 month(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.
Source: www.thelancet.comCategories: General Medicine News, NeurologyTweet
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Mashup Score: 52RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses - 1 month(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.
Source: www.thelancet.comCategories: General Medicine News, NeurologyTweet
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Mashup Score: 0New therapeutic avenues for Duchenne muscular dystrophy - 1 month(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.
Source: www.thelancet.comCategories: General Medicine News, NeurologyTweet
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Mashup Score: 1Hans Krebs and neurology - 2 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.
Source: www.thelancet.comCategories: General Medicine News, NeurologyTweet
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Mashup Score: 10Unravelling the circuits of movement - 2 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.
Source: www.thelancet.comCategories: General Medicine News, NeurologyTweet
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Mashup Score: 6Genetics of migraine: complexity, implications, and potential clinical applications - 2 month(s) ago
Migraine is a common neurological disorder with large burden in terms of disability for individuals and costs for society. Accurate diagnosis and effective treatments remain priorities. Understanding the genetic factors that contribute to migraine risk and symptom manifestation could improve individual management. Migraine has a strong genetic basis that includes both monogenic and polygenic forms. Some distinct, rare, familial migraine subtypes are caused by pathogenic variants in genes involved in ion transport and neurotransmitter release, suggesting an underlying vulnerability of the excitatory–inhibitory balance in the brain, which might be exacerbated by disruption of homoeostasis and lead to migraine.
Source: www.thelancet.comCategories: General Medicine News, NeurologyTweet
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Mashup Score: 2ELEVATEd hope for patients after migraine treatment failure - 2 month(s) ago
The emergence of calcitonin gene-related peptide (CGRP)-related medications has heralded a new era in migraine treatment. Numerous randomised controlled trials and real-world studies attest to the efficacy of anti-CGRP monoclonal antibodies and small-molecule CGRP receptor antagonists (gepants) in migraine preventive treatment, while gepants are also efficacious in acute treatment.
Source: www.thelancet.comCategories: General Medicine News, NeurologyTweet
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Mashup Score: 1Cristina Tassorelli: making a difference in headache research - 2 month(s) ago
Some observers might call Cristina Tassorelli a workaholic. Afterall, when we speak, she had sent her last e-mail late in the previous evening and, at 7am, had her first meeting of the day. Describing herself as highly motivated, curious, and energetic, she explains: “I’m never tired and I am in love with and believe in the work that I do”. Tassorelli is a Professor of Neurology and Dean of the Medical School at the University of Pavia, Italy. She also directs the Headache Science and Neurorehabilitation Centre and the Complex Unit of Neurorehabilitation at the IRCCS Neurological Institute C Mondino in Pavia.
Source: www.thelancet.comCategories: General Medicine News, NeurologyTweet
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Mashup Score: 12
Atogepant 60 mg once a day was safe, well tolerated, and showed significant and clinically relevant reductions in mean monthly migraine days compared with placebo across 12 weeks in patients with episodic migraine who had previously been failed by two to four classes of conventional oral preventive treatments. Atogepant might be an effective preventive treatment option for patients in this difficult-to-treat population.
Source: www.thelancet.comCategories: General Medicine News, NeurologyTweet
In a linked Comment, @MathiasToft5 discusses the biological mechanisms that could be involved, and says the mutation in RAB32 emphasises the role of the endolysosomal pathway in Parkinson's disease https://t.co/v4ClwTvVcg #WorldParkinsonsDay