AbstractHerein we present two siblings with hereditary spastic paraplegia caused by novel compound heterozygous variant and deletion in FARS2 and expansion of the disease spectrum to include dysphonia.Keywordshereditary spastic paraplegiaFARS2CNVGet full access to this articleView all access options for this article.Get accessReferences1. Walker MA Mohler KP Hopkins KW et al. Novel compound heterozygous mutations expand the recognized phenotypes of FARS2-linked disease. J Child Neurol. 2016;3 1(9):1127–1137.
