Pantothenate kinase-associated neurodegeneration
| Pantothenate kinase-associated neurodegeneration | |
|---|---|
| Other names | Neurodegeneration with brain iron accumulation 1 |
| Pantetheine | |
| Specialty | Neurology |
| Symptoms | Dystonia, parkinsonism, dementia |
| Usual onset | Under 10 years (classical), Over 10 years (atypical) |
| Types | Classical, atypical |
| Causes | PANK2 mutation |
| Frequency | 1–3 per 1 million people |
Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden–Spatz syndrome, is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain.
PKAN is caused by loss of function of the enzyme PANK2, due to bi-allelic genetic mutations. It follows autosomal recessive inheritance. This enzyme is the first step in the pathway converting vitamin B5 into coenzyme A. There are currently no treatments that modify disease progress, though there are a number of medications and therapies that can help improve symptoms and there is active research into treatments.