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Article

TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Acta neuropathologica - 1 Aug 2012

Martinez-Lage Maria, Molina-Porcel Laura, Falcone Dana, McCluskey Leo, Lee Virginia M-Y, Van Deerlin Vivianna M, Trojanowski John Q

Abstract excerpt

Mutations in NIPA1 (non-imprinted in Prader-Willi/Angelman syndrome) have been described as a cause of autosomal dominant hereditary spastic paraplegia (HSP) known as SPG6 (spastic paraplegia-6). We present the first neuropathological description of a patient with a NIPA1 mutation, and clinical phenotype of complicated HSP with motor neuron disease-like syndrome and cognitive decline. Postmortem examination...

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Identifiers

PMID: 22302102
DOI: 10.1007/s00401-012-0947-y
PMCID: PMC3361549

Genes

NIPA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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