A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene

This study reports a large series of patients with a clinical picture dominated by spastic paraplegia in whom variants in the NEFL gene, a known cause for Charcot-Marie-Tooth disease, were identified.

Source: Parkinsonism and Related Disorders - September 10, 2020 Category: Neurology Authors: Karlien Mul, Meyke I. Schouten, Erica van der Looij, Dennis Dooijes, Eric F.A.M. Hennekam, Nicolette C. Notermans, Peter Praamstra, Judith van Gaalen, Erik-Jan Kamsteeg, Nienke E. Verbeek, Bart P.C. van de Warrenburg Tags: Short communication Source Type: research