[Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor].
Costeff syndrome or 3-methylglutaconic aciduria type 3, was described by a group of Israeli doctors in 1989. Since then more than 40 patients were described. Most of the patients are of Iraqi-Jewish origin. The clinical abnormalities are bilateral optic atrophy, extrapyramidal signs, spasticity ataxia, dysarthria and mild cognitive deficit. Recently, the gene responsible for this disorder, OPA3 gene was identified. This gene was also discovered by an Israeli doctor. This is a case history of a patient with Costeff syndrome presenting the characteristics of this syndrome and the gene that causes this disease.
Fink
Noam
N
Department of Medicine E, Sheba Medical Center, Tel Hashomer, and Sackler Faculty of Medicine, Tel Aviv University.
Mouallem
Meir
M
D000328:Adult; D005260:Female; D006801:Humans; D007557:Israel; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics; D013706:Temporomandibular Joint Dysfunction Syndrome / Q000175:diagnosis* / Q000235:genetics*
C443108:OPA3 protein, human; D011506:Proteins