neurodegeneration with brain iron accumulation 6

Rare Disease

MONDO:0014290

Also Known As

COASY neurodegeneration with brain iron accumulationCoPANNBIA6neurodegeneration with brain iron accumulation 6neurodegeneration with brain iron accumulation caused by mutation in COASYneurodegeneration with brain iron accumulation due to COASY mutationneurodegeneration with brain iron accumulation type 6COASY protein-associated neurodegeneration

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.