Article
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Human mutation - 1 Mar 2020
Gu Shen, Chen Chun-An, Rosenfeld Jill A, Cope Heidi, Launay Nathalie, Flanigan Kevin M, Waldrop Megan A, Schrader Rachel, Juusola Jane, Goker-Alpan Ozlem, Milunsky Aubrey, Schlüter Agatha, Troncoso Mónica, Pujol Aurora, Tan Queenie K-G, Schaaf Christian P, Meng Linyan
Abstract excerpt
Hereditary spastic paraplegia (HSP) is a group of disorders with predominant symptoms of lower-extremity weakness and spasticity. Despite the delineation of numerous genetic causes of HSP, a significant portion of individuals with HSP remain molecularly undiagnosed. Through exome sequencing, we identified five unrelated families with childhood-onset nonsyndromic HSP, all presenting with progressive spastic gait,...
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