neurodegeneration with brain iron accumulation 6
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.
MONDO:0018307
neurodegeneration with brain iron accumulation
is_a
COASY neurodegeneration with brain iron accumulation
exact
CoPAN
exact
NBIA6
exact
neurodegeneration with brain iron accumulation 6
exact
neurodegeneration with brain iron accumulation caused by mutation in COASY
exact
neurodegeneration with brain iron accumulation due to COASY mutation
exact
neurodegeneration with brain iron accumulation type 6
exact
SPAC1F12.08