What Is Pantothenate Kinase-Associated Neurodegeneration?
Source: Genetic and Rare Diseases (GARD) Information Center
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Pantothenate Kinase-Associated Neurodegeneration
PKAN; Neurodegeneration with brain iron accumulation; NBIA; Neuroaxonal dystrophy (late infantile); Hallervorden-Spatz disease
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood.
Hallervorden Spatz disease - MRI image shows iron deposits in the basal ganglia, the so-called eye-of-the-tiger sign
Image by Enro2002
Posterior-lateral view of the central nervous system
Image by TheVisualMD
Source: Genetic and Rare Diseases (GARD) Information Center
Dystonia
Image by Internet Archive Book Images
There are two forms of PKAN, classical and atypical.
Classic PKAN: Symptoms of classic PKAN develop during early childhood, usually before age 10, and usually include:
Atypical form: Features of the atypical form usually progress more slowly and appear within the first three decades of life. Signs and symptoms may include:
All individuals with PKAN have an abnormal buildup of iron in certain areas of the brain. A particular change, called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder.
Source: Genetic and Rare Diseases (GARD) Information Center
Dopaminergic system and reward processing
Image by Oscar Arias-Carrión, Xanic Caraza-Santiago, Sergio Salgado-Licona, Mohamed Salama, Sergio Machado, Antonio Egidio Nardi, Manuel Menéndez-González and Eric Murillo-Rodríguez.
Source: Genetic and Rare Diseases (GARD) Information Center
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