FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum

Eva B Forman; Kathleen M Gorman; Sean Ennis; Mary D King

doi:10.1177/0883073819846805

FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum

J Child Neurol. 2019 Sep;34(10):621. doi: 10.1177/0883073819846805. Epub 2019 May 19.

Authors

Eva B Forman^{1

2}, Kathleen M Gorman^{1

2}, Sean Ennis², Mary D King^{1

2}

Affiliations

¹ Department of Neurology and Neurophysiology, Children's University Hospital, Dublin, Ireland.
² Academic Centre on Rare Disease (ACoRD), University College Dublin, Ireland.

PMID: 31106652
DOI: 10.1177/0883073819846805

Abstract

Herein 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.

Keywords: CNV; FARS2; hereditary spastic paraplegia.

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Child
Disease Progression
Dysphonia / genetics*
Female
Heterozygote
Humans
Male
Mitochondrial Proteins / genetics*
Mutation, Missense*
Phenotype
Phenylalanine-tRNA Ligase / genetics*
Siblings
Spastic Paraplegia, Hereditary / genetics*

Substances

Mitochondrial Proteins
FARS2 protein, human
Phenylalanine-tRNA Ligase