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Article

A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2022

Lopergolo Diego, Berti Gianna, Mari Francesca, Bertini Enrico, Rufa Alessandra, Battisti Carla, Sicurelli Francesco, Renieri Alessandra, Federico Antonio, Sandhoff Konrad, Malandrini Alessandro

Abstract excerpt

INTRODUCTION: Spastic paraplegia type 11 (SPG11) is the most frequent autosomal recessive HSP. Studies on SPG11 patients' fibroblasts, post-mortem brains, and mouse models revealed endolysosomal system dysfunction and lipid accumulation, especially gangliosides. We report a patient with early clinical findings mimicking a GM2-gangliosidosis. METHODS: A clinical, biochemical, and metabolic characterization was...

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PMID: 35066644
DOI: 10.1007/s10072-021-05841-8

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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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