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The symptoms for each type NBIA are different and can occur in different timeframes...  

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What is NBIA and BPAN?


Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders characterized by abnormal accumulation of iron in the base of the basal ganglia. The basal ganglia is an important cluster of nerve cells in the inner brain that are responsible for initiating and integrating movement and for cognitive coordination. It has a significant cognitive role in procedural memory, habit and skill learning, attention, perception and language. NBIA is progressive and, at this time, there is no cure.

There are 10 types of NBIA and each is cause by a different gene defect. NBIA is rare with less than 1/1,000,000. PKAN is the most common and responsible for 35 - 50% of the reported cases.  Beta-propeller protein-assoicated neurodegeneration (BPAN) is ultra-rare, affecting about 45 individuals and accounting for only 2%-3% documented cases. BPAN is caused by a de nova pathogenic variant in WDR45. De nova variants are a gene variant that does not occur in either parent and present for the first time in the affected individual.  

>>What are the symptoms? read more

SOURCES: 

https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Know-Your-Brain                                                                 

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064519/ 

Conditional routing of information to the cortex: A model of the basal ganglia’s role in cognitive coordination.

Stocco, Andrea; Lebiere, Christian; Anderson, John R.

Psychological Review, Vol 117(2), Apr 2010, 541-574. http://dx.doi.org/10.1037/a0019077

 

Overview of NBIA Disorders

http://www.nbiadisorders.org/about-nbia/overview-of-nbia-disorders

https://www.e-jmd.org/upload/jmd-8-1-1.pdf

Unfortunately, current research funding is very limited. Learn more...

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