The Piedmont Charitable Foundation is proud to support the NBIA Disorders Association. NBIA's mission aligns with the program objectives of PCF in its support for medical research that affects the quality of life for members of our community. For more information on NBIA, please continue to read about its important mission below.
NBIA is a rare, inherited, neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder). To date, four different genes have been found that cause NBIA; there are most likely other causative genes that have not yet been identified.
The common feature among all individuals with NBIA is abnormal iron accumulation in the brain with a progressive movement disorder. Individuals can plateau for long periods of time and then experience intervals of rapid deterioration. Symptoms may vary greatly from case to case, partly because the genetic cause may differ between families. Also, different changes (mutations) within a gene could lead to a more or less severe presentation. The factors that influence disease severity and the rate of progression are still unknown. The diagram below shows the different forms of NBIA and, when known, the genes that cause them. Although NBIA is generally divided into early onset and late onset forms, there are always exceptions to this rule and some cases will fall between these two categories.
The category of NBIA includes patients previously diagnosed with Hallervorden-Spatz syndrome. "Neurodegeneration with brain iron accumulation" reflects the ongoing discoveries about the underlying causes of NBIA. The term NBIA is general enough to cover all conditions previously categorized as Hallervorden-Spatz syndrome plus other conditions found to fit in this group. In addition, concerns about the unethical activities of Dr. Hallervorden (and perhaps also Dr. Spatz) involving euthanasia of mentally ill and physically disabled patients during World War II provided motivation to change the name.
Individuals with NBIA have high iron levels in part of the brain called the basal ganglia. The basal ganglia is a collection of structures deep within the base of the brain that assist in regulating movements. The exact relationship between iron accumulation and the symptoms of NBIA is not fully understood. Although we all normally have iron in this area, people with NBIA have extra iron here that can be seen on MRI (magnetic resonance imaging). Certain MRI views (T2-weighted images) show the iron as dark regions in the brain. High brain iron is most often seen in the part of the basal ganglia called the globus pallidus. It is also often seen in another part called the substantia nigra.
Individuals with NBIA also all share a finding in the nerve cells that can only be detected by performing electron microscopy on nerve tissue obtained from a biopsy. Nerve cells have long extensions, called axons, that transmit messages from one nerve cell to the next. In NBIA, some axons are found to be swollen with collections of cellular debris or "junk" that should not be there. These swellings are called spheroids, spheroid bodies, or axonal spheroids. In most forms of NBIA, spheroids are only located in nerves of the brain and spinal cord. Therefore, they are usually not detected until an autopsy is performed on someone who has passed away. In infantile neuroaxonal dystrophy (INAD), however, spheroids are also found in nerves throughout the body and a biopsy can be done on skin, muscle, or other tissue to look for them.
For more information on the Piedmont resident who inspires us on a daily basis with her strength, courage and love, please visit the site which chronicles Brittany Leap's life in dealing with NBIA.