Antonio Petrucci, Ludovico Lispi, Matteo Garibaldi, Erika Frezza, Francesca Moro, Roberto Massa, Filippo Maria Santorelli
Mutations in the neurofilament polypetide light chain (NEFL) gene account for <1 % of all forms of Charcot-Marie-Tooth (CMT) diseases, and present with different phenotypes, including demyelinating, axonal and intermediate neuropathies and with diverse pattern of transmission, with dominant and recessive inheritance being described. Here we present clinical and molecular data in two new unrelated Italian families, affected with CMT. We studied fifteen subjects (11 women, 4 men), age range 23-62 year. Onset of symptoms was mainly in childhood, with running/walking difficulties; some patients were pauci-asymptomatic; almost all shared variably distributed features of absent/reduced deep tendon reflexes, impaired gait, reduced sensation and distal weakness in the legs...
February 21, 2023: European Neurology