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Article

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.

European journal of human genetics : EJHG - 1 Dec 2020

Bourinaris Thomas, Smedley Damian, Cipriani Valentina, Sheikh Isabella, Athanasiou-Fragkouli Alkyoni, Chinnery Patrick, Morris Huw, Real Raquel, Harrison Victoria, Reid Evan, Wood Nicholas, Vandrovcova Jana, Houlden Henry, Tucci Arianna

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes Project (100KGP) is a large UK-wide initiative to provide genetic diagnosis to previously undiagnosed patients and families with rare conditions. Over 400 HSP families were recruited to the...

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PMID: 32934340
DOI: 10.1038/s41431-020-00720-w
PMCID: PMC7784862

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