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Article

Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jul 2015

Li Yu-sheng, Mao Cheng-yuan, Shi Chang-he, Song Bo, Wu Jun, Qin Jie, Ji Yan, Niu Hui-xia, Luo Hai-yang, Shang Dan-dan, Sun Shi-lei, Xu Yu-ming

Abstract excerpt

We used a combined approach of whole-exome sequencing and candidate mutation validation to identify the disease-causing gene in a hereditary spastic paraplegia (HSP) patient with lower motor neuron involvement, mild cerebellar signs and dysgenesis of the corpus callosum. HSP is a clinically and genetically heterogeneous neurodegenerative disorder characterized by degeneration of the corticospinal tract motor...

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Source

Identifiers

PMID: 26003865
DOI: 10.1016/j.jocn.2015.01.014

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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