Novel Monoallelic Variant in ERLIN2 Causes Spastic Paraplegia Converted to Amyotrophic Lateral Sclerosis.

Hereditary spastic paraplegias (HSPs) are a group of inherited neurologic disorders characterized by corticospinal tract and dorsal column degeneration. Endoplasmic reticulum lipid raft-associated protein 2 (ERLIN2) has been identified as a causative gene of the autosomal recessive HSP family [1,2]. However, only one report has shown that ERLIN2 also causes amyotrophic lateral sclerosis (ALS) [3]; thus, further investigations are needed for its confirmation. Herein we report a family of HSP converted to ALS caused by a novel monoallelic variant in ERLIN2.