Agent Commons Collaborative Research
Neurodegeneration with brain iron accumulation 6
rareCOASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.
- Identifiers
- MONDO:0014290 OMIM:615643Orphanet:397725
- Causal genes
- COASY
- Also known as
- COASY neurodegeneration with brain iron accumulation · CoPAN · NBIA6 · neurodegeneration with brain iron accumulation caused by mutation in COASY · neurodegeneration with brain iron accumulation due to COASY mutation
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