Evidence map›Paper›PMID 35066644›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022

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

Diego Lopergolo, Gianna Berti, Francesca Mari, Enrico Bertini, Alessandra Rufa, Carla Battisti, Francesco Sicurelli, Alessandra Renieri, Antonio Federico, Konrad Sandhoff and 1 more

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In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 99% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Trial
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 2 countries.

Diego LopergoloDepartment of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Gianna BertiDepartment of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Francesca MariMedical Genetics, University of Siena, Siena, Italy.
Enrico BertiniUnit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Alessandra RufaDepartment of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Carla BattistiDepartment of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Francesco SicurelliDepartment of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Alessandra RenieriMedical Genetics, University of Siena, Siena, Italy.
Antonio FedericoDepartment of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Konrad SandhoffMembrane Biology and Lipid Biochemistry Unit, LIMES Institute, University of Bonn, Bonn, Germany.
Alessandro MalandriniDepartment of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy. alessandro.malandrini@unisi.it.ORCID http://orcid.org/0000-0002-4068-8714
University of Siena · ITBambino Gesù Children's Hospital · ITUniversity of Bonn · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionSpastic 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.

methodsA clinical, biochemical, and metabolic characterization was performed. Electron microscopy analysis was completed on rectal mucosa and skin biopsy specimens. A NGS panel of genes associated to neuronal ceroid lipofuscinosis and HSP was analyzed.

resultsThe patient presented with worsening walking difficulty and psychomotor slowdown since childhood; to exclude a neurometabolic storage disease, skin and rectal biopsies were performed: enteric neurons showed lipofuscin-like intracellular inclusions, thus suggesting a possible GM2-gangliosidosis. However, further analysis did not allow to confirm such hypothesis. In adulthood we detected flaccid paraplegia, nystagmus, axonal motor neuropathy, carpus callosum atrophy, and colon atony. Surprisingly, the NGS panel detected two already reported SPG11 mutations in compound heterozygosity.

conclusionsWe describe for the first time pathological hallmarks of SPG11 in enteric neuron from a rectal mucosa biopsy. The report illustrates the possible overlap between SPG11 and GM2-gangliosidosis, especially in the first disease phases and helps to improve our knowledge about SPG11 physiopathology.

Indexed as

GangliosidosesSpastic Paraplegia, HereditaryAdultAnimalsChildHumansMiceMutationProteinsProteinsSPG11 protein, humanSPG11 protein, mouseGM2-gangliosidosisLipofuscin-like inclusionsSpastic paraplegia type 11

Identifiers

PMID35066644
OpenAlexW4207075078

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.