Costeff optic atrophy syndrome
Evidence-based neurology checklist on costeff optic atrophy syndrome: Genetics This is caused by mutations in the OPA3 gene The transmission is autosomal recessive It is prevalent in people of Iraqi Jewish descent Clinical features Occasional features Urinary features Differential diagnosis Synonyms
Genetics
- This is caused by mutations in the OPA3 gene
- The transmission is autosomal recessive
- It is prevalent in people of Iraqi Jewish descent
Clinical features
Occasional features
Urinary features
Differential diagnosis
Synonyms
References
- Ho G, Walter JH, Christodoulou J. Costeff optic atrophy syndrome: new clinical case and novel molecular findings. J Inherit Metab Dis 2008; 31 (Suppl 2):S419-S423.
- Yahalom G, Anikster Y, Huna-Baron R, et al. Costeff syndrome: clinical features and natural history. J Neurol 2014; 261:2275-2282.
- Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. 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. Am J Hum Genet 2001; 69:1218-1224.
- Carmi N, Lev D, Leshinsky-Silver E, et al. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. Eur J Paediatr Neurol 2015; 19:733-736.
- Straussberg R, Brand N, Gadoth N. 3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy. Neuropediatrics 1998; 29:54-56.
