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Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

Neurogenetics - 1 Apr 2024

Cioffi Ettore, Coppola Gianluca, Musumeci Olimpia, Gallone Salvatore, Silvestri Gabriella, Rossi Salvatore, Piemonte Fiorella, D'Amico Jessica, Tessa Alessandra, Santorelli Filippo Maria, Casali Carlo

Abstract excerpt

Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper motor neurons, with different inheritance patterns and phenotypes. SPG46 is a rare, early-onset and autosomal recessive HSP, linked to biallelic GBA2 mutations. About thirty families have been described worldwide, with different phenotypes like complicated HSP, recessive cerebellar ataxia or...

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Identifiers

PMID: 38334933
DOI: 10.1007/s10048-024-00749-9
PMCID: PMC11076336

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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