Patients with neuroferritinopathy, also called neurodegeneration with brain iron accumulation, type 2, (NBIA2) or dominant adult-onset basal ganglia disease [OMIM # 606159] are typically characterized with extrapyramidal features similar to Huntington disease or parkinsonism. Patients with neuroferritinopathy characteristically have low serum ferritin levels, and brain MRI findings consistent with excess iron storage and cystic changes involving the globus pallidus and the putamen. The imaging and histology findings are similar to those of neurodegeneration with brain iron accumulation 1 (NBIA1, formerly called Hallervorden-Spatz syndrome).
Mutations of the ferritin light chain gene (FTL) [OMIM #134790] have been identified in patients with neuroferritinopathy. To date pathogenic mutations have been identified in exon 4 of the FTL gene. 460insA was the originally identified founder mutation in Cumbria, North West England, and has been found in the largest number of cases. Other mutations in the FTL gene have been observed in other patient populations.
We offer mutation analysis of all 4 coding exons and intron/exon boundaries of FTL by direct sequencing of amplification products in both the forward and reverse directions.