CoA synthase protein associated neurodegeneration
CoA synthase protein associated neurodegeneration (CoPAN) is a type of neurodegeneration with brain iron accumulation (NBIA).
Patients typically present with a variety of symptoms including spastic-dystonic paraparesis, Parkinsonism, cognitive impairment, obsessive-compulsive disorder.
Coenzyme A synthesis (CoASY) is a cofactor involved in enzymatic reactions. CoASY mutation leads to brain iron accumulation.
MRI and CT
- 1. SALOMAO, Rubens Paulo Araújo et al. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. Arq. Neuro-Psiquiatr. 2016, vol.74, n.7, pp.587-596. ISSN 0004-282X. http://dx.doi.org/10.1590/0004-282X20160080.