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Article

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.

Clinical genetics - 1 Mar 2020

Stregapede Fabrizia, Travaglini Lorena, Rebelo Adriana P, Cintra Vivian Pedigone, Bellacchio Emanuele, Bosco Luca, Alfieri Paolo, Pro Stefano, Zuchner Stephan, Bertini Enrico, Nicita Francesco

Abstract excerpt

Dominant mutations in ATP1A1, encoding the alpha-1 isoform of the Na+ /K+ -ATPase, have been recently reported to cause an axonal to intermediate type of Charcot-Marie-Tooth disease (ie, CMT2DD) and a syndrome with hypomagnesemia, intractable seizures and severe intellectual disability. Here, we describe the first case of hereditary spastic paraplegia (HSP) caused by a novel de novo (p.L337P) variant in ATP1A1....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31705535
DOI: 10.1111/cge.13668

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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