John M Ringman, Naghmeh Dorrani, Sara Gutiérrez Fernández, Rebecca Signer, Julian Martinez-Agosto, Hane Lee, Emilie D Douine, Yuchuan Qiao, Yonggang Shi, Lina D'Orazio, Sanjay Pawar, Leah Robbie, Amir H Kashani, Maxwell Singer, Joshua T Byers, Shino Magaki, Sam Guzman, Abhay Sagare, Berislav Zlokovic, Stephen Cederbaum, Stanley Nelson, Nasim Sheikh-Bahaei, Helena C Chui, Lucía Chávez-Gutiérrez, Harry V Vinters
Spastic paraparesis has been described to occur in 13.7% of PSEN1 mutations and can be the presenting feature in 7.5%. In this paper, we describe a family with a particularly young onset of spastic paraparesis due to a novel mutation in PSEN1 (F388S). Three affected brothers underwent comprehensive imaging protocols, two underwent ophthalmological evaluations and one underwent neuropathological examination after his death at age 29. Age of onset was consistently at age 23 with spastic paraparesis, dysarthria and bradyphrenia...
2023: Brain communications