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Article

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

American journal of human genetics - 1 Oct 2003

Rainier Shirley, Chai Jing-Hua, Tokarz Debra, Nicholls Robert D, Fink John K

Abstract excerpt

The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal dominant HSP (ADHSP), linked to chromosome 15q11-q13 (SPG6 locus); and precisely the same mutation in an unrelated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 14508710
DOI: 10.1086/378817
PMCID: PMC1180617

Genes

NIPA1

Provenance

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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