Pantothenate Kinase-Associated Neurodegeneration
It is possible that the main title of the report Pantothenate Kinase-Associated Neurodegeneration is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Hallervorden-Spatz Syndrome
- Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus
- neurodegeneration with brain iron accumulation type 1
Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of the 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 the characteristic finding on magnetic resonance imaging (MRI) called the "eye-of-the-tiger" sign, which indicates accumulation of iron in the brain in a characteristic pattern.
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.
PKAN 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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
1825 K Street NW, Suite 1200
Washington, DC 20006
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
NBIA Disorders Association
2082 Monaco Court
El Cajon, CA 92019-4235
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Advocacy for Neuroacanthocytosis Patients
32 Launceston Place
London, W8 5RN