I was looking around the internet at the various types of neurodegenerative diseases that exist and Google did that auto fill-in thing to me and brought up "neurodegeneration with brain iron accumulation." That's a condition that I have never heard of before so I looked further into it and found this scientific paper on it.
Neurodegeneration with brain iron accumulation (NBIA) is a genetic disorder that, as its name implies, causes the degeneration of the brain due to a build up of iron. The disease was originally only discernible post-mortem, and was identified by the rust brown pigmentation that could be observed in parts of the brain. Fortunately it is now easier to diagnose using an MRI. The symptoms of the condition include dytonia (which is a neurological movement disorder which results in sustained contraction of muscles, twisting repeditive movements, and abnormal posture), rigidity, and choreoathetosis (which involve irregular writhing and twisting.)
The disease is passed down in an autosomal recessive fashion, and though the exact mechanism of the condition is not always the same, around half of those affected by it have a mutation in the PANK2 gene, which results in pantothenate kinase-associated neurodegeneration, which is another name for NBIA. Individuals are typically symptomatic in the first decade of life, though in some it manifests in the 2nd and 3rd decades.
Unfortunately however is that there is still no effective treatment for the condition itself, aside from typical anti-dystonia treatments to alleviate suffering. Some of the attempted treatments end up resulting in a systemic iron deficiency before any real change in the brain's iron content is seen, and thus those methods have not proven effective.
Research on this rare condition is ongoing, especially in looking at the other 50% of cases that do not involve the PANK2 gene, to determine what other genes are involved and to look at potential treatments associated with them.
- Jon Patterson
I found your blog very interesting. I too have never heard of NBIA. From reading this blog it made me wonder whether iron accumulation is common in other neurodegenerative diseases. I found my answer in this article: http://nro.sagepub.com/content/6/6/435.abstract.
ReplyDeleteThe most common neurodegenerative diseases are said to have iron accumulation. This includes Alzheimer’s disease which is said to have an altered iron homeostasis in the brain by increased iron content. This iron is said to promote the deposition of the B-amyloid peptide (which is partially responsible for plaque buildup in AD brains). Another disease associated with iron uptake is Parkinson’s disease which is said to have abnormal levels of iron in the nigra. Striatum, and nueromelanin-containing cells. This was shown to have a positive correlation with individuals with severe PD. Another disease includes Huntington’s Disease which has found striatal iron accumulation has in presymptomatic Huntington’s patients and the involvement of free radical generation which, may contribute to neurodegeneration.
From this, it seems to suggest that iron is involved in the mechanisms that underlie many neurodegenerative diseases. Although iron is important for carrying oxygen in red blood cells around the body, I still do not understand why and how iron accumulation causes so much harm in the brain as well as the reasoning for iron imbalances in the first place. Not all of them are inheritable so there must be another environmental cause that is associated with this.