Genetic Risk of Axonal Neuropathy Following Infection
J. Robert Harkness, John Henry McDermott, Shea Marsden, Peter Jamieson, Kay Metcalfe, Naz Khan, William L. Macken, Robert D. S. Pitceathly, Christopher J. Record, Reza Maroofian, Kloepa Kloepas, Ataf Hussain Sabir, Lily Islam, Saikat Santra, Enise Avcı Durmuşalioğlu, , William G. Newman
The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.
medRxiv · Oct 4, 2024 · PreprintGenetic & Genomic Medicine