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Article

Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration.

Brain : a journal of neurology - 1 Aug 2020

Pozner Tatyana, Regensburger Martin, Engelhorn Tobias, Winkler Jürgen, Winner Beate

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron disorders characterized by progressive weakness and spasticity of the lower limbs. HSP type 11 (SPG11-HSP) is linked to pathogenic variants in the SPG11 gene and it represents the most frequent form of complex autosomal recessive HSP. The majority of SPG11-HSP patients exhibit additional neurological symptoms such as cognitive...

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Identifiers

PMID: 32355960
DOI: 10.1093/brain/awaa099
PMCID: PMC7447516

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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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