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Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum.

Parkinsonism & related disorders - 1 Mar 2013

Cao Li, Rong Tian-Yi, Huang Xiao-Jun, Fang Rong, Wu Zhi-Yuan, Tang Hui-Dong, Chen Sheng-Di

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Mutations in SPG11 gene have been recently identified as a major cause of hereditary spastic paraplegia with thin corpus callosum. METHODS: Two unrelated Chinese families were examined by clinical evaluation, mutation analysis of SPG11,...

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Source

Identifiers

PMID: 23121729
DOI: 10.1016/j.parkreldis.2012.10.007

Genes

SPG11

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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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