Francesca Maltecca | Group Leader
San Raffaele Scientific Institute

Dr. Maltecca's main research interest is in inherited cerebellar ataxias of primary or secondary mitochondrial origin. She has a background in human genetics with specialized training and expertise in inherited cerebellar ataxias, as well as a solid background in cerebellar physiology and pathology. Her past and current research activities include deciphering the molecular mechanisms of inherited cerebellar ataxias and developing preclinical treatments. In particular, she has published seminal papers uncovering the function of the mammalian mitochondrial protease AFG3L2 and deciphering the pathogenesis of SCA28 and SPAX5 caused by AFG3L2 mutations. She has also published several papers on ARSACS covering different aspects of this disease: preclinical treatment in mouse models, deciphering the pathogenetic mechanism, imaging biomarkers and developing new diagnostic tools. Based on her experience with ataxia mouse models, she has coordinated the working group dealing with the preclinical trials in the frame of the Ataxia Global Initiative. She is also part of an international research consortium studying drug development in recessive ataxias (Treat-ARCA), funded by the European Joint Program for Rare Disease. She is constantly working with the National Ataxia Foundation (NAF) and many patient charities.