COASY Protein-Associated Neurodegeneration (Q101870): Difference between revisions
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Neurodegeneração associada a proteína COASY (Coenzima A sintase) (CoPAN) é um transtorno genético autossômico recessivo raro, mas devastador, de erro inato do metabolismo da CoA (coenzima A), que compartilha características semelhantes às da neurodegeneração associada à pantotenato quinase (PKAN), tais como distonia, traços parkinsonianos, comprometimento cognitivo, neuropatia axonal e acúmulo de ferro no cérebro. Estes dois transtornos fazem parte do grande grupo de neurodegenerações com acúmulo de ferro no cérebro (NBIA). | |||
| description / en | description / en | ||
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). | |||
Revision as of 18:42, 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 |
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| default for all languages | ID_849690656 |
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| 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). |
