PKAN is caused by a mutation in the
PANK2 gene, which encodes a critical protein that phosphorylates vitamin B5 (pantothenate), generating phosphopantothenate.
Mutation in the PANK2 gene (band 20p13) accounts for most inherited PKAN cases.
The locus of the causative gene is 20p12.3-13 and it codes for pantothenate kinase-2 (PANK2).
Brain magnetic resonance imaging (MRI) results were normal and there was no mutation in either DYT1 or
PANK2 genes.
Diseases related to iron overload in the brain Disease Disease gene Clinical features Pantothenate kinase-associated
PANK2 Childhood-onset dystonia neurodegeneration (PKAN) and spasticity Fatty acid FA2H Trouble speaking, gait hydroxylase-associated abnormalities, dystonia and neurodegeneration (FAHN) parkinsonism Neuroferritinopathy FTL Abnormal gait late in disease Too much iron These three genetic diseases belong to a small group of disorders marked by excess iron in the brain.
In recent years, several genetic causes have been identified, such as PANK2, PLA2G6, FA2H, ATP13A2, CP, and FTL [1].
In 2001, the causative gene of PKAN, PANK2, was first identified to be located on chromosome 20p13 [4].
It is an autosomal recessive disorder resulting from biallelic mutations in the
PANK2 gene on chromosome 20p13 [1,2] for which there is only symptomatic treatment.
All patients with
PANK2 mutations had the specific pattern of T2-WI globus pallidus central hyperintensity (Destruction and gliosis) with surrounding hypointensity (Iron deposition) known as the eye-of-the-tiger sign.
We could not do the mutational study of the gene
PANK2, as it is not available in our country.