Neurodegeneration with brain iron accumulation 6
Neurodegeneration with brain iron accumulation 6
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.
Also known as COASY neurodegeneration with brain iron accumulation, CoPAN, NBIA6, neurodegeneration with brain iron accumulation 6, neurodegeneration with brain iron accumulation caused by mutation in COASY, neurodegeneration with brain iron accumulation due to COASY mutation, neurodegeneration with brain iron accumulation type 6 — per MONDO