Research Groups



Coordinators of the group

  • Belén Pérez Dueñas

The researchers of the Neuronal Development and Metabolic Disorders Group belong to the Unit for Assistance on Movement Disorders Caused by Rare Diseases. This unit, which is formed by specialists of Hospital Sant Joan de Déu and Hospital Clínic de Barcelona, seeks to be designated a reference unit of the Spanish National Health System. In the last 5 years, the group has devoted itself to a research line on vitamin-sensitive movement disorders. These are defects in genes responsible for the transport, synthesis and processing of vitamins. The disorders of this type affect the developing central nervous system and may produce processes of acute and/or progressive encephalopathy, mitochondrial energetic deficit and brain myelination disorders. Their identification is a priority since the early administration of large doses of vitamins may bring about a spectacular improvement in patients. This research line has been possible thanks to the performance of the following research projects financed by FIS:

  • Study of defects in the transport and metabolism of thiamine associated with recurrent encephalopathies in childhood.
  • Cerebral folate deficiency.
  • Relation to neurotransmitters and follow-up of treatment with folinic acid.

Goals for the next three years

  1. To develop the FIS project on thiamine defects called "Study of defects in the transport and metabolism of thiamine associated with recurrent encephalopathies in childhood" (see the Projects section). Identification of new clinical phenotypes, study of biomarkers in blood and cerebrospinal fluid for early diagnosis, and studies of expression of cellular transporters of thiamine in brain tissue and in cell cultures.
  2. Identification of Spanish patients with deficit of pantothenate kinase (an enzyme involved in the metabolism of vitamin B5, also called pantothenic acid), and design and validation of a checklist to evaluate the clinical severity and progression of the disorder. This project is under development and is currently looking for funding. It is a project in collaboration with the Spanish Association of Patients with Neurodegeneration with Brain Iron Accumulation (NBIA).
  3. Transfer and internationalisation activities: Creation of a national register of patients with these disorders as the two national centres that also study this type of disorders (IBC- Hospital Clínic de Barcelona and CEDEM-Autonomous University of Madrid) will take part as collaborators in this project. The patients who are identified in this project will also be registered in the European database on neurometabolic disorders (iNTD database).