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COASY protein-associated neurodegeneration
Disease definition
COASY 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.
ORPHA:397725
Classification level: DisorderDetailed information
Article for general public
Professionals
- Clinical genetics review
- English (2019)
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