Evidence map›Paper›PMID 40447857›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025

Long term clinical follow-up and natural history in a cohort of Italian patients with GNE myopathy: the experience of a single centre.

Alessia Pugliese, M Sframeli, P D'Ambrosio, A Barbaccia, F Biasini, A Migliorato, C Terranova, S Messina, A Toscano, C Rodolico

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Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Alessia Pugliese *Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. alpugliese@unime.it.ORCID http://orcid.org/0009-0002-9303-9299
M Sframeli *Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
P D'AmbrosioMedical and Laboratory Genetics Unit, AORN 'Antonio Cardarelli', Naples, Italy.
A BarbacciaDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
F BiasiniDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
A MiglioratoBiomorphology, Dental Sciences and Morphological and Functional Images, University of Messina, Messina, Italy.
C TerranovaDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
S MessinaDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
A ToscanoDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
C RodolicoDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGNE myopathy is a muscle disease due to mutations in the GNE gene, encoding for the key enzyme of sialic acid biosynthesis. This disorder firstly involves distal lower limb muscles and slowly progresses to scapular girdle and distal upper limb muscles. PATIENTS/

methodsWe describe a cohort of 13 patients (9/13 women and 4/13 men) affected by GNE myopathy, followed on average for 15 years. The diagnoses were based on clinical evaluation, EMG, muscle MRI/CT, muscle biopsy and genetic analysis.

resultsOur patients have a mean age of 44 years old. The onset of symptoms was between the second and third decade of life. In the early stage, every patient complained difficulty in walking caused by foot drop. Ten patients are now wheelchair-bound, and quadriceps is typically spared in each patient, as commonly described for GNE myopathy. Only one patient developed respiratory failure requiring non-invasive ventilation. EMG study revealed a myopathic pattern in quite all patients and muscle biopsy showed atrophic fibres with "rimmed" vacuoles. Finally, all our patients are genetically characterized: 4/13 present a homozygous mutation in GNE gene, 9/13 a compound heterozygous one.

conclusionsGNE myopathy is a very rare muscle disorder, probably under-diagnosed because of the large group of diseases manifesting with foot drop. Although that, it's necessary to suspect it in case of distal and bilateral lower limb muscles weakness with quadriceps sparing. Several aspects of this myopathy are still unclear and there is no approved therapy for, but novel therapeutic strategies continue to be explored.

Indexed as

Distal MyopathiesMultienzyme ComplexesAdultAgedCohort StudiesDisease ProgressionElectromyographyFemaleFollow-Up StudiesHumansItalyMagnetic Resonance ImagingMaleMiddle AgedMuscle, SkeletalMutationMultienzyme ComplexesUDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinaseFoot dropGNE myopathyHereditary inclusion body myopathy (hIBM)Rimmed vacuolesSialic acid

Identifiers

PMID40447857

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