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. 

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


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rID: 50279
Synonyms or Alternate Spellings:

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