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COASY protein-associated neurodegeneration

Disease 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.

ORPHA:397725

  • Synonym(s):
    • CoPAN
    • NBIA6
    • Neurodegeneration with brain iron accumulation due to COASY mutation
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G23.0
  • OMIM: 615643
  • UMLS: -
  • MeSH: -
  • GARD: 12571
  • MedDRA: -

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