Pantothenate kinase associated Neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutations in PKAN2 gene. In the biosynthesis of coenzyme A, Pantothenate Kinase 2 is a main regulatory enzyme and decreased levels of triglycerides, free cholesterol and cholesterol precursors were reported in PKAN Patients.
A late onset PKAN patient was reports with homozygous (G1070C) PKAN2 gene mutation. According to the clinical onset, the five decade of life with a slowly progressive parkinsonian syndrome was reported. Unlike other PKAN patients, the plasma lipid profile presented hypercholesterolemia due to increased endogenous precursor synthesis.
A 48 years old man was referred, without any parental history of consanguinity with a clinical picture of tremor and gait disorder. Family history consists of hypercholesterolemia and coronary heart disease in the father. Patient’s symptoms began to appear when he was 40 with isolated tremor in the second finger of his right hand. A genetic test was performed, sequencing the seven coding exons and exonintron junctions of PKAN2 gene, indicating homozygous missense mutation G1070C (Arg357Pro) in exon 3.
PKAN is a rare metabolic disorder with a heterogeneous phenotypic presentation and other patient homozygous for the mutation C1069T (Arg357Trp) was also reported as showing a classic PKAN phenotype. The reported patient suggests that changes in systemic lipid pull may modulate clinical presentation.