Publications by authors named "T Maisonobe"
Article Synopsis
- ALS is a disease that affects nerve cells and usually leads to severe muscle problems and a short life expectancy of 3-5 years.
- The study explored how cholesterol and its levels in muscle might relate to the problems caused by ALS, showing that ALS patients had more cholesterol in their muscles.
- Researchers noticed that certain genes related to cholesterol movement were overactive in ALS patients, suggesting that cholesterol buildup might be linked to the severity of their muscle issues.
Background And Aims: Pathogenic variants in the NARS1 gene, which encodes for the asparaginyl-tRNA synthetase1 (NARS1) enzyme, were associated with complex central and peripheral nervous system phenotypes. Recently, Charcot-Marie-Tooth (CMT) disease has been linked to heterozygous pathogenic variants in NARS1 in nine patients. Here, we report two brothers and their mother from a French family with distal hereditary motor neuropathy (dHMN) carrying a previously unreported NARS1 variant.
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- The study analyzed 166 patients with acute neurological symptoms linked to anti-GQ1b antibodies, revealing frequent symptoms like areflexia, sensory issues, and muscle weakness.
- The majority of patients were treated with intravenous immunoglobulins, leading to complete neurological recovery for 69% at the one-year mark, although 15% experienced relapses.
- Key predictors for incomplete recovery included age over 70, initial ICU admission, and absence of anti-GQ1b antibodies; no predictors for relapse were identified.