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Neurodegeneration with Brain Iron Accumulation Type 1
Condition Overview: Neurodegeneration with Brain Iron Accumulation Type 1 (Hallervorden-Spatz syndrome) is a rare, inherited, neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder). Recently, one of the genetic causes was identified; however, there are probably other causative genes that exist that have not yet been found. Approximately 50% of individuals with a clinical diagnosis of NBIA1 have gene mutations in PANK2, which helps to metabolize vitamin B5.The common feature among all individuals with NBIA1 is iron accumulation in the brain, along with a progressive movement disorder. Individuals can plateau for long periods of time and then undergo intervals of rapid deterioration. Symptoms may vary greatly from case to case, partly because the genetic cause may differ between families. There are likely different genes that cause NBIA1 and furthermore different mutations within a gene that could lead to a more or less severe presentation. The factors that influence disease severity and the rate of progression are still unknown. Common features include dystonia, (an abnormality in muscle tone), muscular rigidity, and sudden involuntary muscle spasms (spasticity). These features can result in clumsiness, gait (walking) problems, difficulty controlling movement, and speech problems. Another common feature is degeneration of the retina, resulting in progressive night blindness and loss of peripheral (side) vision. In general, symptoms are progressive and become worse over time. This disorder was formerly known as Hallervorden-Spatz Syndrome, but because of concerns about the unethical activities of Dr. Hallervorden (and perhaps also Dr. Spatz) involving euthanasia of mentally ill patients during World War II, the name has been changed. Neurodegeneration with Brain Iron Accumulation Type 1 reflects the continuing discoveries about the underlying cause of the disorder. This name is increasingly used in the scientific literature. The term NBIA1 is general enough to cover all conditions previously categorized as Hallervorden-Spatz syndrome. The largest subgroup of NBIA observed so far is PKAN (pantothenate kinase associated neurodegeneration). It is a defect of the gene PANK2, which causes a deficiency of the enzyme pantothenate kinase. As the terminology changes, one may notice the terms NBIA and PKAN being used interchangeably with HSS. . |
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