Results 61 to 70 of about 1,886 (182)

Lafora Disease: A Ubiquitination-Related Pathology

Cells, 2018
Lafora disease (LD, OMIM254780) is a rare and fatal form of progressive myoclonus epilepsy (PME). Among PMEs, LD is unique because of the rapid neurological deterioration of the patients and the appearance in brain and peripheral tissues of insoluble ...
Maria Adelaida García-Gimeno, Erwin Knecht, Pascual Sanz   +2 more
doaj   +1 more source

Are c.436G>A mutations less severe forms of Lafora disease? A case report

Epilepsy and Behavior Case Reports, 2014
Lafora disease is a form of progressive myoclonic epilepsy with autosomal recessive transmission. Two genes have been identified so far: EPM2A and NHLRC1, and a third gene, concerning a pediatric onset subform, has been recently proposed.
Hélène-Marie Lanoiselée, Pierre Genton, Gaetan Lesca, Florence Brault, Bertrand De Toffol   +4 more
doaj   +1 more source

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease

JIMD Reports, Volume 67, Issue 3, May 2026.
Genetic prevalence study of glycogen storage disease type IV. In collaboration with the Rare Genomes Project at the Broad Institute of MIT and Harvard and the APBD Research Foundation, this study queried and curated variants in GBE1 from ClinVar, HGMD, and gnomAD to calculate the genetic prevalence of glycogen storage disease type IV (GSD IV).
Rebecca L. Koch, H. Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T. Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, Samantha Baxter   +13 more
wiley   +1 more source

¹H and ³¹P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease. [PDF]

Brain Commun
Lafora disease is a fatal teenage-onset progressive myoclonus-epilepsy and neurodegenerative disease associated with polyglucosan bodies. Polyglucosans are long-branched and as a result precipitation and aggregation-prone glycogen.
Chan KL, Panatpur A, Messahel S, Dahshi H, Johnson T, Henning A, Ren J, Minassian BA.   +7 more
europepmc   +2 more sources

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Doença de Lafora: diagnóstico pela biopsia de músculo esquelético (relato de caso) Lafora's disease: diagnosis by muscle biopsy (case report)

Arquivos de Neuro-Psiquiatria, 2000
Uma paciente de 16 anos apresentava epilepsia mioclônica causada pela doença de Lafora. A biopsia muscular mostrou padrão vacuolar nas fibras musculares com as reações nicotinamida adenina tetrazolium redutase desidrogenase, hematoxilina-eosina e PAS.
ALZIRA ALVES DE SIQUEIRA CARVALHO, VIVIANA PALOU, MARIA SHEILA GUIMARÃES ROCHA, SONIA MARIA DOZZI BRUCKI, MEIRE ARGENTONI   +4 more
doaj   +1 more source

NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease [PDF]

, 2021
Lafora disease is an autosomal recessive disorder that causes myoclonic epilepsy1,2,3. The disease is characterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous system.
Jagannathan, Vidya, Leeb, Tosso, Maiolini, Arianna, Häni, Anna Katrin, Barrientos, Laura Soledad   +4 more
core  

Enfermedad de Lafora y efecto fundador en una pequeña localidad neotropical

Revista de Biología Tropical, 2000
La enfermedad de Lafora es una condición genética infrecuente. Cuatro casos (dos familias) fueron detectados en Zarcero, una pequeña localidad de Costa Rica (población bajo 2000).
María Virginia Solís
doaj  

Unverricht-Lundborg Disease

Pediatric Neurology Briefs, 1991
The progression of clinical and neurophysiological findings in a Swedish family with 4 siblings with Unverricht-Lundborg disease is reported from the Departments of Pediatrics and Clinical Neurophysiology, University of Gothenburgh, Sweden and Department
J Gordon Millichap
doaj   +1 more source