ArticleJournal of the neurological sciences2021
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Article in Journal of the neurological sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.Orphanet journal of rare diseases · 2023Pooled it
- Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Axonal polyneuropathy in Lafora disease with a newly identified EPM2A mutation: a case report and review of literature.Journal of neurology · 2025Article
- The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness.Epilepsy & behavior : E&B · 2025Article
- Clinical course and management challenges in Lafora disease: a narrative analysis in an Apulian cohort.Orphanet journal of rare diseases · 2025Article
- Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes.Epilepsia open · 2025Review
- Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior.The Journal of comparative neurology · 2024Article
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease.Neurobiology of disease · 2023Article
- Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.Frontiers in neurology · 2023Article
- Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Electro-clinical features and management of the late stage of Lafora disease.Frontiers in neurology · 2022Article
Corrections and comments
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Authors and funding
33 authors at 17 institutions in 2 countries.
Funding
Abstract
backgroundLafora disease (LD) is characterized by progressive myoclonus, refractory epilepsy, and cognitive deterioration. This complex neurodegenerative condition is caused by pathogenic variants in EPM2A/EPM2B genes, encoding two essential glycogen metabolism enzymes known as laforin and malin. Long-term follow-up data are lacking. We describe the clinical features and genetic findings of a cohort of 26 Italian patients with a long clinical follow-up.
methodsPatients with EPM2A/EPM2B pathogenic variants were identified by direct gene sequencing or gene panels with targeted re-sequencing. Disease progression, motor functions, and mental performance were assessed by a simplified disability scale. Spontaneous/action myoclonus severity was scored by the Magaudda Scale.
resultsAge range was 12.2-46.2 years (mean:25.53 ± 9.14). Age at disease onset ranged from 10 to 22 years (mean:14.04 ± 2.62). The mean follow-up period was 11.48 ± 7.8 years. Twelve out of the 26 (46%) patients preserved walking ability and 13 (50%) maintained speech. A slower disease progression with preserved ambulation and speech after ≥4 years of follow-up was observed in 1 (11%) out of the 9 (35%) EPM2A patients and in 6 (35%) out of the 17 (65%) EPM2B patients. Follow-up was >10 years in 7 (41.2%) EPM2B individuals, including two harbouring the homozygous p.(D146N) pathogenic variant.
conclusionsThis study supports an overall worse disease outcome with severe deterioration of ambulation and speech in patients carrying EPM2A mutations. However, the delayed onset of disabling symptoms observed in the EPM2B subjects harbouring the p.(D146N) pathogenic variant suggests that the underlying causative variant may still influence LD severity.
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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.