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.