| Abstrakt: |
A new study conducted at University Regional Hospital Nancy in France has investigated the clinical spectrum of a recently identified phenotype associated with LAMB1 end-truncating pathogenic variations. The study found that all patients with these variations exhibited a hippocampal type episodic memory dysfunction and a diffuse leukoencephalopathy, which worsened over time in some cases. Additional neurological symptoms such as numbness, language troubles, and faintness were also reported. The researchers concluded that this association should prompt LAMB1 screening to avoid unnecessary invasive investigations. [Extracted from the article] |
