/pantothenate kinase-associated neurodegeneration

pantothenate kinase-associated neurodegeneration

Rare Disease

MONDO:0009319

Also Known As

brain iron accumulation type I syndromeHallervorden-Spatz diseaseHallervorden-Spatz syndromeNBIA1PKANneurodegeneration with brain iron accumulation 1neurodegeneration with brain iron accumulation type 1pantothenate kinase-associated neurodegenerationpigmentary pallidal degenerationPkan neuroaxonal dystrophy, juvenile-onsetneuroaxonal dystrophy, late infantile

Definition

Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.