Norberto Rodriguez-Espinosa and Adoración Moro-Miguel
Background: Pantothenate kinase associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutations in PKAN2 gene. Pantothenate Kinase 2 is a key regulatory enzyme in the biosynthesis of coenzyme A and reduced levels of triglycerides, free cholesterol and cholesterol precursors were reported in PKAN patients.
Clinical case: We report an atypical late onset PKAN patient homozygous for (G1070C) PKAN2 gene mutation. The clinical onset was in the five decade of life with a slowly progressive parkinsonian syndrome. Unlike other PKAN patients the plasma lipid profile showed hypercholesterolemia due to increased endogenous precursor synthesis.
Conclusion: The (G1070C) PKAN2 gene mutation was reported previously in PKAN patients with clinical onset in the second decade of life, psychiatric and motor symptoms and faster course. Since fatty acid excess enhances Pantotenate Kinase 2 activity, the reported case suggests that peripheral lipids synthesis may modulate PKAN clinical course.
