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Article

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.

Movement disorders : official journal of the Movement Disorder Society - 15 Feb 2011

Guidubaldi Arianna, Piano Carla, Santorelli Filippo M, Silvestri Gabriella, Petracca Martina, Tessa Alessandra, Bentivoglio Anna Rita

Abstract excerpt

BACKGROUND: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular white matter changes. Mutations in the SPG11 gene have been identified to be a major cause of autosomal recessive hereditary spastic...

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Identifiers

PMID: 21381113
DOI: 10.1002/mds.23552

Genes

SPG11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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