Disease Information for Hallervorden-Spatz disease (PKAN/NBIA)

A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence; Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years; Pathologic examination reveals neuronal atrophy in the globus pallidus and iron deposition in blood vessels and perivascular spaces; (From Adams et al, Principles of Neurology, 6th ed)--------------------------------------------Brain Iron Accumulation Type 1; HSS; Hallervorden-Spatz Syndrome; NBIA1; NBIA1; Pantothenate Kinase Associated Neurodegeneration (PKAN); Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus; 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 (Pantothenic acid); 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;

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 ----------[NORD 2005]---------

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