COASY protein-associated neurodegeneration
ORPHA:397725· ICD-10 G23.0
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood