Pantothenate Kinase-Associated Neurodegeneration
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Pantothenate Kinase-Associated Neurodegeneration is not the name you expected.
Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system (neurodegenerative disorder). PKAN is the most common type of neurodegeneration with brain iron accumulation (NBIA), a group of clinical disorders marked by progressive abnormal involuntary movements, alterations in muscle tone, and postural disturbances (extrapyramidal). These disorders show radiographic evidence of iron accumulation in the brain. PKAN is typically diagnosed by molecular genetic testing, most often after a characteristic finding on magnetic resonance imaging (MRI), called the "eye-of-the-tiger" sign, is detected.
PKAN is inherited as an autosomal recessive genetic condition and is described as being classical or atypical. Classic PKAN typically appears in early childhood with symptoms that worsen rapidly. Atypical PKAN, which progresses more slowly, appears later in childhood or early adolescence. Some people have been diagnosed in infancy or adulthood, and some of those affected have characteristics that are between the two categories.
Hallervorden-Spatz syndrome was first described in 1922 by Drs. Julius Hallervorden and Hugo Spatz with their study of a family of 12 in which five sisters exhibited progressively increasing dementia and poor articulation and slurred speech (dysarthria). The name Hallervorden-Spatz syndrome became discouraged and was replaced with neurodegeneration with brain iron accumulation because of concerns regarding Dr. Hallervorden's and Dr. Spatz's affiliation with the Nazi regime and their unethical activities surrounding how they obtained many autopsy specimens.
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NBIA Disorders Association
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Last Updated: 3/21/2016
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