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Article

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.

Brain : a journal of neurology - 1 Oct 2013

Vantaggiato Chiara, Crimella Claudia, Airoldi Giovanni, Polishchuk Roman, Bonato Sara, Brighina Erika, Scarlato Marina, Musumeci Olimpia, Toscano Antonio, Martinuzzi Andrea, Santorelli Filippo Maria, Ballabio Andrea, Bresolin Nereo, Clementi Emilio, Bassi Maria Teresa

Abstract excerpt

Hereditary spastic paraparesis type 15 is a recessive complicated form of the disease clinically characterized by slowly progressive spastic paraparesis and mental deterioration with onset between the first and second decade of life. Thinning of corpus callosum is the neuroradiological distinctiv...

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Identifiers

PMID: 24030950
DOI: 10.1093/brain/awt227
PMCID: PMC3784282

Genes

UVRAG
ZFYVE26

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24030950-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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