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Article

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2017

Chelban Viorica, Tucci Arianna, Lynch David S, Polke James M, Santos Liana, Jonvik Hallgeir, Groppa Stanislav, Wood Nicholas W, Houlden Henry

Abstract excerpt

BACKGROUND: The hereditary spastic paraplegias (HSPs) are a rare and heterogeneous group of neurodegenerative disorders that are clinically characterised by progressive lower limb spasticity. They are classified as either 'pure' or 'complex' where spastic paraplegia is complicated with additional neurological features. Mutations in the spastin gene (SPAST) are the most common cause of HSP and typically present...

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Source

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Identifiers

PMID: 28572275
DOI: 10.1136/jnnp-2017-315796
PMCID: PMC5537546

Genes

SPAST

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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