COASY Protein-Associated Neurodegeneration
Alternate names[edit | edit source]
CoPAN; NBIA6; Neurodegeneration with brain iron accumulation due to COASY mutation; Neurodegeneration with brain iron accumulation 6
Definition[edit | edit source]
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.
NIH genetic and rare disease info[edit source]
COASY Protein-Associated Neurodegeneration is a rare disease.
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