Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

doi:10.1016/j.ajhg.2012.11.021

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Article

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

American journal of human genetics - 7 Feb 2013

Martin Elodie, Schüle Rebecca, Smets Katrien, Rastetter Agnès, Boukhris Amir, Loureiro José L, Gonzalez Michael A, Mundwiller Emeline, Deconinck Tine, Wessner Marc, Jornea Ludmila, Oteyza Andrés Caballero, Durr Alexandra, Martin Jean-Jacques, Schöls Ludger, Mhiri Chokri, Lamari Foudil, Züchner Stephan, De Jonghe Peter, Kabashi Edor, Brice Alexis, Stevanin Giovanni

Abstract excerpt

Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating variants and one missense variant), which were found to cosegregate with the disease and were absent in controls. GBA2 encodes a...

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Identifiers

PMID: 23332916
DOI: 10.1016/j.ajhg.2012.11.021
PMCID: PMC3567271

Genes

GBA2

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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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