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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… Click to show full 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 cohort of 8 patients with a uniform clinical presentation.
Keywords:
hereditary spastic;
spastic paraplegia;
dominant kpna3;
infantile onset;
kpna3 mutations
Journal Title: Annals of Neurology
Year Published: 2021
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Journal Title: Annals of Neurology
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!