COASY Protein-Associated Neurodegeneration: Difference between revisions

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Latest revision as of 06:07, 4 February 2025

Alternate names[edit]

CoPAN; NBIA6; Neurodegeneration with brain iron accumulation due to COASY mutation; Neurodegeneration with brain iron accumulation 6

Definition[edit]

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.

NIH genetic and rare disease info[edit]

COASY Protein-Associated Neurodegeneration is a rare disease.


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