Research on the NARS1 gene is still limited, making it challenging for families to fully understand the connection between a diagnosis and its symptoms. For those navigating a NARS1 diagnosis, finding clear answers and support can be overwhelming.

At the Rory Belle Foundation, we’re dedicated to changing that. Below, you’ll find the publications available so far, as part of our ongoing effort to bridge the gap between science and families.

2020:

• Manole A, Efthymiou S, O'Connor E, et al. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020;107(2):311-324. doi:10.1016/j.ajhg.2020.06.016. Supplemental Data.

• Wang L, Li Z, Sievert D, et al. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly [published correction appears in Nat Commun. 2021 Feb 15;12(1):1192. doi: 10.1038/s41467-021-21448-1]. Nat Commun. 2020;11(1):4038. Published 2020 Aug 12. doi:10.1038/s41467-020-17454-4.

2022:

• Atemin S, Todorov T, Tourtourikov I, et al. Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the NARS1 Gene. Acta Medica Bulgarica. 2022;49(2):48-50. doi.org/10.2478/amb-2022-0020.

2024:

• Ahmed AN, Rawlins LE, Khan N, et al. Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan. BMC Neurol. 2024;24(1):394. Published 2024 Oct 16. doi:10.1186/s12883-024-03882-y.

• Beijer D, Marte S, Li JC, et al. Dominant NARS1mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases. Brain Commun. 2024;6(2):fcae070. Published 2024 Mar 8. doi:10.1093/braincomms/fcae070.

• Cesaroni CA, Contrò G, Spagnoli C, et al. Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature. Neurogenetics. 2024;25(3):287-291. doi:10.1007/s10048-024-00760-0.

• Nonkulovski, D., Sulejmani, H., & Memeti, S. (2024). Neurodevelopmental disorder associated with NARS1 gene mutation in a child with cerebral palsy. International Journal of Research in Medical Sciences, 12(5), 1702–1705. doi:10.18203/2320-6012.ijrms20241258.

• Theuriet J, Marte S, Isapof A, et al. A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. J Peripher Nerv Syst. 2024;29(2):275-278. doi:10.1111/jns.12635.

• Vlachou V, Alrahman A, Majumdar A. 78VP Pathogenic NARS1 mutations identified as the cause of neurodevelopment delay, microcephaly and peripheral neuropathy in two related patients. Neuromuscular Disorders. 2024; 43(1):117. doi:10.1016/j.nmd.2024.07.441.

2025:

• Hasija N, Lees J. NARS1-Related Disorder-An Orphan Disease. Paediatr Anaesth. Published online February 4, 2025. doi:10.1111/pan.15071.