Global InformationCosteff syndrome information
| Costeff syndrome | |
|---|---|
| Other names | 3-Methylglutaconic Aciduria Type III, Costeff Optic Atrophy Syndrome, Optic Atrophy Plus Syndrome |
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| This condition is inherited in an autosomal recessive manner. | |
Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene.[1] It is typically associated with the onset of visual deterioration (optic atrophy) in early childhood followed by the development of movement problems and motor disability in later childhood, occasionally along with mild cases of cognitive deficiency.[2] The disorder is named after Hanan Costeff, the doctor who first described the syndrome in 1989. [3]
- ^ Reference, Genetics Home. "Costeff syndrome". Genetics Home Reference. Retrieved 2017-05-28.
- ^ Anikster, Yair; Kleta, Robert; Shaag, Avraham; Gahl, William A.; Elpeleg, Orly (2001–2012). "Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews". American Journal of Human Genetics. 69 (6): 1218–1224. doi:10.1086/324651. ISSN 0002-9297. PMC 1235533. PMID 11668429.
- ^ Costeff, H.; Gadoth, N.; Apter, N.; Prialnic, M.; Savir, H. (1989–2004). "A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia". Neurology. 39 (4): 595–597. doi:10.1212/wnl.39.4.595. ISSN 0028-3878. PMID 2494568. S2CID 36166124.