CoA synthase protein associated neurodegeneration

Radiopaedia • CC-by-nc-sa 3.0 • de

CoA synthase protein associated neurodegeneration (CoPAN) is a type of neurodegeneration with brain iron accumulation (NBIA).

Clinical presentation

Patients typically present with a variety of symptoms including spastic-dystonic paraparesis, Parkinsonism, cognitive impairment, obsessive-compulsive disorder.

Pathology

Coenzyme A (CoA) synthase (gene: CoASY) is a cofactor involved in enzymatic reactions. Mutations in the CoASY gene leads to brain iron accumulation.

Radiographic features

MRI and CT

"Eye of the tiger sign" on T2 MRI (like PKAN) associated with bilateral basal ganglia calcifications.