COASY Protein-Associated Neurodegeneration (Q101870): Difference between revisions

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Latest revision as of 18:43, 16 August 2026

COASY (Coenzyme A Synthase) protein-associated neurodegeneration (CoPAN) is a rare but devastating genetic autosomal recessive disorder of inborn error of CoA (coenzyme A) metabolism, which shares with pantothenate kinase-associated neurodegeneration (PKAN) similar features, such as dystonia, parkinsonian traits, cognitive impairment, axonal neuropathy, and brain iron accumulation. These two disorders are part of the big group of neurodegenerations with brain iron accumulation (NBIA).

Language	Label	Description	Also known as
default for all languages	ID_849690656
English	COASY Protein-Associated Neurodegeneration	COASY (Coenzyme A Synthase) protein-associated neurodegeneration (CoPAN) is a rare but devastating genetic autosomal recessive disorder of inborn error of CoA (coenzyme A) metabolism, which shares with pantothenate kinase-associated neurodegeneration (PKAN) similar features, such as dystonia, parkinsonian traits, cognitive impairment, axonal neuropathy, and brain iron accumulation. These two disorders are part of the big group of neurodegenerations with brain iron accumulation (NBIA).