Neurodegeneration with brain iron accumulation 1 - CISMeF
Neurodegeneration with brain iron accumulation 1OMIM Phenotype
Preferred Label : Neurodegeneration with brain iron accumulation 1;
Symbol : NBIA1;
CISMeF acronym : PKAN; NBIA1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Pantothenate kinase-associated neurodegeneration; Pkan neuroaxonal dystrophy, juvenile-onset; Hallervorden-spatz disease; PKAN;
Description : Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder
characterized by progressive iron accumulation in the basal ganglia and other regions
of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.
Age at onset, severity, and cognitive involvement are variable (review by Gregory
et al., 2009).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the pantothenate kinase-2 gene (PANK2, 607157.0001);