This website provides information on patients with mutations in the UBAP1 gene, including clinical data, molecular data, management and research options.

Pathogenic variants in UBAP1 are associated with autosomal dominant spastic paraplegia type 80 (SPG80), a form of hereditary spastic paraplegia (HSP). The disorder is characterized primarily by progressive lower-limb spasticity and weakness, typically with onset in childhood or adolescence. Some patients may present additional neurological manifestations such as ataxia or mild peripheral neuropathy. Cognitive function is usually preserved.

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 UBAP1 gene.

Aurora Pujol, MD, PhD, FACMG, Clinical Geneticist, Neurometabolic Diseases Laboratory, IDIBELL. Hospital Duran i Reynals, Barcelona, Spain, apujol@idibell.cat

Agusti Rodriguez-Palmero, MD, PhD, Child Neurologist, Department of Pediatrics. Germans Trias i Pujol University Hospital, Barcelona, Spain, arodriguezpalmero.germanstrias@gencat.cat