Rare causes of dystonia-parkinsonism with cognitive impairment, behavioral abnormalities, and voiceless whispering stereotypies: Describing the long-term evolution of the neurological phenotype in a patient with the PSEN2 Ile149Thr variant

Genetic variants in Presenilin 1 (PSEN1) and Presenilin 2 (PSEN2) are associated with autosomal dominant forms of Alzheimer's disease (AD) [1], as potentially implicated in dysfunctional gamma-secretase activity in amyloid-beta processing [2].>200 variants in PSEN1 and 68 in PSEN2 have been described [3] [http://www.molgen.ua.ac.be/admutations].

Source: Journal of the Neurological Sciences - October 20, 2023 Category: Neurology Authors: Luigi Michele Romito, Sara Prioni, Arianna Braccia, Marcella Catania, Antonio Emanuele Elia, Francesco Dondi, Silvia Lucchini, Francesco Bertagna, Sylvie H.M.J. Piacentini, Roberto Eleopra, Giuseppe Di Fede Source Type: research