A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia

ConclusionsBiallelic variants in ERLIN2 are known to cause recessive HSP type SPG18. Here, we describe the first two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant. These findings expand the mutational and inheritance spectrum of SPG18. ERLIN2 variants should also be considered in the diagnostic evaluation of patients with autosomal dominant HSP.This article is protected by copyright. All rights reserved.

Source: European Journal of Neurology - March 12, 2018 Category: Neurology Authors: Siri Lynne Rydning, Ales Dudesek, Florian Rimmele, Claudia Funke, Stefanie Kr üger, Saskia Biskup, Magnus D. Vigeland, Hanne S. Hjorthaug, Yngve Sejersted, Chantal Tallaksen, Kaja K. Selmer, Christoph Kamm Tags: Original Article Source Type: research