Ubiquitin-Associated Protein 1 (UBAP1) Gene Mutation in a 36-Year-Old Filipino Male With Spastic Paraplegia: A Case Report.

Abstract

Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease caused by retrograde degeneration of the corticospinal tract and posterior columns, which presents with progressive bilateral leg weakness and spasticity. HSP is inherited in an autosomal dominant pattern involving over 80 causative genes. The recently identified causative gene is the ubiquitin-associated protein 1 (UBAP1)gene, which is associated with juvenile-onset pure spastic paraplegia-80 (SPG80). Here, we present a 36-year-old Filipino male with pure-form HSP caused by a nonsense mutation (NM 001171201.1:c.704 >G) in the UBAP1 gene. To our knowledge, this mutation represents a new variant associated with the UBAP1-related HSP. This case report highlights the importance of awareness among individuals and their families affected by HSP and discusses the risks for future generations and available treatment options.