PCYT2

This website provides information on patients with mutations in the PCYT2gene, including clinical data, molecular data, management and research options.

Variants in the PCYT2gene has been associated with pure and complex hereditary spastic paraplegia. In the second case, combined with global developmental delay, intellectual disability, and epilepsy. The first manifestations can appear from birth to the second decade of life and the clinical severity is variable. Visual impairment with cataracts, nystagmus and optic atrophy or skeletal abnormalities have also been reported in these patients.

MRI studies showed progressive cerebral and/or cerebellar atrophy and white matter hyperintensities.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PCYT2gene.

Aurora Pujol, MD, PhD, Neurometabolic Diseases Laboratory, IDIBELL. Hospital Duran i Reynals, L’Hospitalet de Llobregat, Barcelona, Spain, apujol@idibell.cat
Agusti Rodriguez-Palmero, MD, PhD, Child Neurologist, Department of Paediatrics. Germans Trias i Pujol University Hospital, Barcelona, Spain, arodriguezpalmero.germanstrias@gencat.cat