by Tel-Aviv University Differential effects of TIMM50 mutation on the expression of TIM23, PAM and TOM subunits and matrix-destined proteins. Credit: eLife (2024). DOI: 10.7554/eLife.99914.2 Researchers at Tel Aviv University have developed an innovative research model that allowed them to decode the mechanism underlying a severe and rare neurological disease. The disease is characterized by symptoms such as...
Tag: <span>neurological disease</span>
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Genetic Cause of Rare Neurological Disease Found After 25-Year Search
HEALTH 15 May 2024ByDAVID NIELD Brain tissue scan, with the bright red ring showing a protein clump that only shows up in patients with SCA4. (Mandi Gandelman) You might not have heard of spinocerebellar ataxia type 4 (SCA4), as it’s an incredibly rare condition – but after a quarter of a century of looking, the...
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A common marker of neurological diseases may play a role in healthy brains
by National Institutes of Health Localization of α-syn Ser129P and effects of phosphorylation on synaptic targeting. Credit: Neuron (2023). DOI: 10.1016/j.neuron.2023.11.020Researchers have discovered that a protein called phosphorylated α-synuclein, which is associated with several neurodegenerative diseases such as Parkinson’s disease and Lewy body dementia, is also involved in the normal processes of how neurons communicate with...
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Scientists discover a rare neurological disease involving cellular recycling
by Anna Rogers, NIH/National Human Genome Research Institute Bi-allelic variants in ATG4D segregate with a neurodevelopmental disorder in three individuals from two unrelated families. a Neuroimaging of Individual 1 showing mild cerebellar atrophy disproportionately involving the superior cerebellar hemispheres and vermis at 5 years 3 months (arrowhead in T2-weighted sagittal view image, left panel). There...
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Researchers identify a potential path against inherited neurological disease
by The Mount Sinai Hospital Researchers at the Icahn School of Medicine at Mount Sinai and NCATS identified compounds that reversed the effects of several neurodegenerative diseases called lysosomal storage disorders (LSDs) in patient cells and mice. LSDs are characterized by genetic defects that prevent the cell’s lysosomes from breaking down and recycling fats, sugars...
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Following nature’s rules, researchers develop new methods for treating degenerative neurological disease
by Paul Tumarkin, University of Arizona Robin Polt (right) coaches undergraduate student Hannah Kuo Feinberg as she works on a glycopeptide project in Polt’s lab. Credit: Paul Tumarkin/Tech Launch Arizona University of Arizona researchers have developed a new class of drugs that is able to cross the blood-brain barrier and could be used to treat...
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‘Eye-catching’ smartphone app could make it easy to screen for neurological disease at home
UNIVERSITY OF CALIFORNIA – SAN DIEGO IMAGE: A SMARTPHONE USER CAN IMAGE THE EYE USING THE RGB SELFIE CAMERA AND THE FRONT-FACING NEAR-INFRARED CAMERA INCLUDED FOR FACIAL RECOGNITION. MEASUREMENTS FROM THIS IMAGING COULD BE USED TO ASSESS THE USER’S COGNITIVE CONDITION. CREDIT: DIGITAL HEALTH LAB Researchers at the University of California San Diego have developed...
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Key mediator of neuronal disruption in neurological disease identified
by Jim Hannah, Wright State University Effect of altering glucose on AIS length in mouse cortical cultures. A, Example images of the AIS after 24 h of exposure to normal culture media containing 25 mm glucose, high-glucose media containing 50 mm glucose, or normal media containing 25 mm glucose with 25 mm mannitol added as an...
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Brain fingerprints help doctors detect neurological disease
by Ecole Polytechnique Federale de Lausanne Enrico Amico, a scientist and SNSF Ambizione Fellow at EPFL’s Center for Neuroprosthetics and EPFL’s Medical Image Processing Lab. Credit: Alain Herzog / EPFL An EPFL scientist has found that brain fingerprints—or maps of the neural connections within our brain—can be used to detect a decline in cognitive ability. That’s...
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Study offers new insight about gene expression and neurological disease heritability
by Ingrid Fadelli, Medical Xpress Credit: Boulting et al. The expression of genes in response to neuronal activity can significantly influence the human brain’s development over time. While many neuroscientists have investigated the epigenetic effects of neuronal activity, most of their studies were conducted on mice, thus the understanding of these processes in humans is...
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