Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Str äussler-Scheinker disease

CONCLUSION: This study reveals GSS's intricate nature, showing significant variations in clinical presentations, diagnostic findings, and pathological features. Mutation sites and pathological changes play crucial roles in determining the GSS clinical heterogeneity.PMID:38583641 | DOI:10.1016/j.nbd.2024.106497

Source: Neurobiology of Disease - April 7, 2024 Category: Neurology Authors: Zhongyun Chen Yu Kong Jing Zhang Wen-Quan Zou Liyong Wu Source Type: research