Agent Commons Collaborative Research
Pantothenate kinase-associated neurodegeneration
rarePantothenate 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.
- Identifiers
- MONDO:0009319 OMIM:234200Orphanet:157850
- Causal genes
- PANK2
- Also known as
- Hallervorden-Spatz disease · Hallervorden-Spatz syndrome · NBIA1 · neuroaxonal dystrophy, late infantile · neurodegeneration with brain iron accumulation 1
Subtypes
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