Discussion
Ceruloplasmin which is mostly synthetized in liver cells has a crucial role within the iron metabolism by oxidation of Fe2+ to Fe3+. [8] This protein’s gene is positioned in chromosome 3q25, and according to human gene mutation databank more than 40 CP gene variant has been described; previous studies failed to show any correlations between the genotypes and, phenotypes.[9, 10] In our patients by direct DNA Sequencing we revealed a unique variant which is (c.2425+1G>C ) in splice region of exon 13 of CP gene.
CP mutation causes iron to accumulate all over the body that provides free radicals and lipoperoxidation supplies that cause oxidative stress and eventually organ damage. [9]
According to prior researches, the initial neurological presentation varies in different races as an example in Japanese patients, the primary neurological manifestations mostly are movement disorders, and cognitive dysfunction will be added in several years. Although, in other races such as Caucasians around 50% of patients at first presented with cognitive disorders or psychiatric complaints such as depression, anxiety and apathy or a mixture of non-motor and motor manifestations.[11].  Based on these researches, dementia has not been published as the sole neurological feature while we reported a case which was presented with pure dementia without any other neurological findings which hitherto no other neurological symptoms have been added. Forasmuch as there are the first Iranian cases of Aceruloplasminemia no previous research has been done.