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Article

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

Neurogenetics - 1 May 2005

Reed Johanna A, Wilkinson Phillip A, Patel Heema, Simpson Michael A, Chatonnet Arnaud, Robay Dimitri, Patton Michael A, Crosby Andrew H, Warner Thomas T

Abstract excerpt

The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterised by lower limb spasticity and weakness. Mutations in NIPA1 (Nonimprinted in Prader-Willi/Angelman syndrome 1) have recently been identified as a cause of autosomal dominant pure HSP, with one mutation described in two unrelated families. NIPA1 has no known function but is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15711826
DOI: 10.1007/s10048-004-0209-9

Genes

NIPA1

Variants

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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