COASY protein-associated neurodegeneration

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Name:
COASY protein-associated neurodegeneration
Description:
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.
ORPHAcode:
397725
Synonyms:
CoPAN
NBIA6
Neurodegeneration with brain iron accumulation due to COASY mutation
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14