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Article

Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.

Annals of neurology - 1 Nov 2021

Schob Claudia, Hempel Maja, Safka Brozkova Dana, Jiang Huafang, Kim Soo Yeon, Batzir Nurit Assia, Orenstein Naama, Bierhals Tatjana, Johannsen Jessika, Uhrova Meszarosova Anna, Chae Jong-Hee, Seeman Pavel, Woidy Mathias, Fang Fang, Kubisch Christian, Kindler Stefan, Denecke Jonas

Abstract excerpt

OBJECTIVE: 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. METHODS: Trio whole-exome sequencing was used in 5 index patients with infantile-onset pure HSP to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34564892
DOI: 10.1002/ana.26228

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