|Gene (OMIM No.)|
|Function of gene/protein|
| Clinical phenotype|
(OMIM phenotype no.)
|Signs for OPA9|
|Signs for ICRD|
|Molecular diagnosis||Next generation sequencing|
|Therapies under research|
One case of optic atrophy with spastic paraplegia has been reported in a patient with compound heterozygous ACO2 mutation.
- Spiegel R, Pines O, Ta-Shma A, et al. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet. 2012;90(3):518-523.
- Metodiev MD, Gerber S, Hubert L, et al. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. J Med Genet. 2014;51(12):834-838.
- Sharkia R, Wierenga KJ, Kessel A, et al. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. J Inherit Metab Dis. 2019;42(2):264-275.
- Marelli C, Hamel C, Quiles M, et al. ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia. Neurol Genet. 2018;4(2):e225.