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Article

A case report of SPG11 mutations in a Chinese ARHSP-TCC family.

BMC neurology - 3 Jun 2016

Zhang Linwei, McFarland Karen N, Jiao Jinsong, Jiao Yujuan

Abstract excerpt

BACKGROUND: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by mental retardation. Mutations in the Spastic Paraplegia gene 11 (SPG11) account for a large proportion of ARHSP-TCC cases worldwide. CASE...

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Identifiers

PMID: 27256065
DOI: 10.1186/s12883-016-0604-5
PMCID: PMC4891852

Genes

SPG11

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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