Conservative iron chelation for VAC14: Two-year clinical-radiological follow-up.

Abstract

There is a distinct lack of consensus on the most effective treatments for neurodegeneration with brain iron accumulation. This is due to the rarity of the disease, its phenotypic variability, and the multiplicity of pathophysiological mechanisms. Our team has already proposed the use of conservative iron chelation in cases of neuroferritinopathy, with interesting results. However, no mention has yet been made of the treatment of parkinsonism-dystonia related to VAC14 gene mutations. The case reported here illustrates clinical stability after 2 years of conservative iron chelation, with an improvement in radiological images.