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1 ημέρα πριν · Amyotrophic lateral sclerosis (ALS) is a disease that can be inherited which affects nerve cells in the brain and spinal cord. Changes within a gene called SOD1 that result in a mutation named p ...
2 ημέρες πριν · The ARPP21 mutation was not found in a group of more than 2,000 people from Spain who didn’t have ALS. Among the 10 individuals, five were men, the mean age at ALS onset was 59.5 years, and the mean disease duration was 16 months. All 10 patients showed a classic disease presentation, and three were still living at the time of the study.
4 ημέρες πριν · Now, researchers from Sant Pau Research Institute (IR Sant Pau) and Sant Pau Hospital (both Barcelona, Spain), led by Ricard Rojas-García, have identified a new mutation in the ARPP21 gene as a cause of ALS. The discovery opens the door to improved diagnostics and potential therapies. ALS is a rare disease, with an average incidence of 1.4–2 ...
1 ημέρα πριν · There is no cure for ALS, and, eventually, the disease is fatal. Genetics contributes significantly to the development of ALS. Mutations in any of an ever-increasing list of genes have been identified to cause ALS with TDP-43, FUS and SOD1 featuring at the top considering that together they are responsible for a large percentage of ALS cases ...
5 ημέρες πριν · The recent identification of a new gene implicated in ALS pathogenesis offers profound insights into the biological underpinnings of this debilitating disease. Researchers have found that mutations in this gene disrupt key cellular processes, leading to motor neuron degeneration. This discovery not only sheds light ...
4 ημέρες πριν · Becoming educated and informed about ALS is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
3 ημέρες πριν · Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive loss of motor neurons in the primary motor cortex, brainstem, and spinal cord. Clinical symptoms include rapidly progressive atrophy and paralysis of all skeletal muscles, including the diaphragm, ultimately resulting in death by respiratory failure within a few years of symptom onset; non-motor ...
