Cuban Health Care System Fights against NBIA

From Granma
12th April

An adequate diet mitigates the symptoms of NBIA, a hereditary neurodegenerative disease, which is a rare and recently detected illnesses, said Cuban doctor Ligia M. Marcos.
In Cuba, the first steps to treat this disease are being taken, based on a strict diet and the use of the drug Deferiprone.

The program is overseen by Dr. Marcos, head of the department on nutrition at the Cuban Institute of Neurology and Neurosurgery, in coordination with other research centers.
NBIA, as it is known in the current clinical literature, is the English acronym for Neurodegeneration by Iron Accumulation in the brain; so far there is no curative treatment for it, said Marcos in an interview with Prensa Latina.
People who suffer from this disease have progressive psychomotor degeneration, with an increasing difficulty to learn and move. In addition, they have a tendency to obesity and incorrect body positions.
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 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
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.
There are several descriptive terms for the neuromuscular symptoms associated with all forms of NBIA. Dystonia describes involuntary muscle cramping that may force certain body parts into unusual, and sometimes painful, movements and positions. Choreoathetosis is a condition characterized by involuntary, rapid, jerky movements (chorea) occurring in association with relatively slow, sinuous, writhing motions (athetosis).
In addition, there may be stiffness in the arms and legs because of continuous resistance to muscle relaxing (spasticity) and abnormal tightening of the muscles (muscular rigidity). Spasticiy and muscle rigidity usually begin in the legs and later develop in the arms. As affected individuals age, they may eventually lose control of voluntary movements. Muscle spasms combined with decreased bone mass can result in bone fractures (not caused by trauma or accident).
Dystonia affects the muscles in the mouth and throat, which may cause poor articulation and slurring (dysarthria) and difficulty swallowing (dysphagia). The progression of dystonia in these muscles can result in loss of speech as well as uncontrollable tongue-biting.
Most forms of NBIA involve eye disease. The most common problems are retinal degeneration and optic atrophy. Some forms of NBIA involve delays in development, mainly pertaining to motor skills (movement), although a small subgroup may have intellectual delays.
At the international level, treatment for the disease is still in the research or experimental stage. In Cuba there are several patients diagnosed with the disease but so far only one 11-year-old child has been treated based on a specific diet and the use of Deferiprone, said Marcos.
The disease was detected in this child six years ago, and since receiving treatment the patient has shown both neurological and pyschometric progress.


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