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Article

A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia.

Journal of human genetics - 1 Dec 2021

Fabbro Dora, Mio Catia, Fogolari Federico, Damante Giuseppe

Abstract excerpt

SPG6 accounts for 1% of autosomal dominant Hereditary Spastic Paraplegia (HSP) and is caused by pathogenic variants in NIPA1, which encodes a magnesium transporter located in plasma membrane and early endosomes, implicated in neuronal development and maintenance. Here we report a 39-year-old woman affected by progressive gait disturbance associated to absence seizures episodes within childhood. Clinical exome...

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Source

Identifiers

PMID: 34108639
DOI: 10.1038/s10038-021-00941-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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