LAUSR

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

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0 Published in 2021 at "Annals of Neurology"

DOI: 10.1002/ana.26228

Abstract: Hereditary spastic paraplegia (HSP) is a highly heterogeneous neurologic disorder characterized by lower‐extremity spasticity. Here, we set out to determine the genetic basis of an autosomal dominant, pure, and infantile‐onset form of HSP in a… read more here.

Keywords: hereditary spastic; spastic paraplegia; dominant kpna3; infantile onset ... See more keywords