Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

ABSTRACT: The diagnostic gap for rare neurodegenerative diseases is still considerable, despite continuous advances in gene identification. Many novel Mendelian genes have only been identified in a few families worldwide. Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1 (ubiquitin-associated protein 1). HSP is a neurodegenerative disease characterized by progressive lower-limb spasticity and weakness, as well as frequent bladder dysfunction. At least 40% of affected persons are currently undiagnosed after exome sequencing. We identified pathological truncating variants in UBAP1 in affected persons

SUBMITTER: Farazi Fard MA 

PROVIDER: S-EPMC6451742 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature