MeSH tree: C16.320.400.375
There is no cure for the rare disease Hereditary Spastic Paraplegia (HSP), but researchers from Drexel University's College of Medicine and the UMass Chan Medical School have achieved proof-of-principle success with "silence ...
Dec 15, 2025
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A new, inexpensive urine test that measures two sugar alcohols, sorbitol and xylitol, is making it easier, faster, and far less expensive to identify a common inherited nerve disorder called SORD-related neuropathy. The test, ...
Nov 17, 2025
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Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP), share physical similarities but have been largely viewed as genetically distinct. However, an analysis led by investigators ...
Oct 29, 2025
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While glucose, or sugar, is a well-known fuel for the brain, Weill Cornell Medicine researchers have demonstrated that electrical activity in synapses—the junctions between neurons where communication occurs—can lead ...
Jul 1, 2025
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While many people with neuromuscular diseases currently face a future without a cure, a new study finds that a personalized exercise and coaching program could improve their fitness and overall health. The study is published ...
Jun 4, 2025
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A new study involving UCL researchers has found 69 previously unidentified genetic determinants of rare disease, including uncommon forms of epilepsy and schizophrenia.
Feb 26, 2025
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Researchers from Cologne, Bochum, Padova and Angers have discovered a novel connection between mitochondrial function, protein quality control and cellular health, whose failure could be the leading cause of the currently ...
Feb 14, 2025
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University of Wisconsin–Madison researchers targeting a group of hereditary neurodegenerative diseases have found success using a gene therapy treatment in an animal model. The approach, which uses CRISPR-Cas9 genome editing ...
Nov 12, 2024
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The elimination of damaged cell components is essential for the maintenance of the body's tissues and organs. An international research team led by the University of Bonn has made significant findings on mechanisms for the ...
Aug 23, 2024
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Charcot-Marie-Tooth (CMT) disease, a group of heritable disorders that affect the peripheral nerves, is marked by specific genetic changes. Research by the team of Prof. Ludo Van Den Bosch (VIB-KU Leuven) now reveals the ...
Jun 3, 2024
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