Article
A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.
Parkinsonism & related disorders - 1 Nov 2020
Mul Karlien, Schouten Meyke I, van der Looij Erica, Dooijes Dennis, Hennekam Frederic A M, Notermans Nicolette C, Praamstra Peter, van Gaalen Judith, Kamsteeg Erik-Jan, Verbeek Nienke E, van de Warrenburg Bart P C
Abstract excerpt
INTRODUCTION: 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. METHODS: Index patients referred for a suspicion of hereditary spastic paraplegia (HSP) were clinically assessed and genetic analysis by next-generation sequencing was undertaken. Additional family...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.