Genotypes and phenotypes of patients with Lafora disease living in Germany

Background: LaFora progressive myoclonus epilepsy (LaFora disease) is usually time-onset, fatal neurodegenerative disease caused by a mutation rare biallelic in EPM2A (Laforin) or EPM2B (NHLRC1, Malin). LaFora disease epidemiology in Germany largely unknown. The aim of this retrospective case series was to characterize genotypes and phenotypes of patients with diseases LaFora living in Germany.

Methods: The patient described in this case a series of an initial clinical diagnosis is suspected LaFora disease, or unclassified progressive myoclonus epilepsy. Molecular genetic diagnostics, including next generation sequencing-based diagnostic panel analysis or whole exome sequencing is done.

Results: Parents of four of the 11 patients nonconsanguineous and German origin, while other patients have parents relatives. Various variants found in EPM2A (six patients) and in EPM2B (five patients). Eight variants have not been reported in the literature so far. The patients bearing a new variant has a typical onset during adolescence and show classic disease course.

Conclusion: This is the first case of a larger series of patients LaFora in Germany. Our data allows real LaFora prevalence estimates in Germany for 1.69 per 10 million people. wider application of gene panels or whole exome diagnostics help clarify unclassified progressive myoclonus epilepsy and establish an early diagnosis, which will become more important as a causal therapy approaches have been developed and will soon be tested in a phase I study

EPM2A has been certified as the causative gene in patients with LaFora disease (LD), which is an autosomal recessive rare and severe form of progressive myoclonus epilepsy. The classic LD begins in adolescence, characterized by various types of seizures with myoclonic seizures as main types. Usually within 10 years, harsh seizures, fast developing dementia and vegetative state is present. LD especially common in Mediterranean countries.

Here, we report the Chinese family with a new compound heterozygous mutations in the genes EPM2A, characterized by recurrent vomiting, intractable epilepsy, and progressive cognitive decline.

 Genotypes and phenotypes of patients with Lafora disease living in Germany
Genotypes and phenotypes of patients with Lafora disease living in Germany

brain proton magnetic resonance spectroscopy findings in Beagle dogs with genetically confirmed LaFora disease.

have identified cortical atrophy using magnetic resonance imaging (MRI) in humans and dogs with LaFora disease (LD). In humans, proton magnetic resonance spectroscopy (1HMRS) of the brain indicating a drop of N-acetyl-aspartate (NAA) relative to other brain metabolites. 1HMRS brain findings in dogs with LD less.

A 6 year old Beagle woman presented with a history of general tonic-clonic seizures, and myoclonus reflex single episodic. Clinical, hematological, and neurological examination findings and 3-Tesla MRI of the brain that is mediocre. 1HMRS brain with voxel position in the thalamus do in Beagle affected.

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It identified a decrease in the number of NAA, glutamate-glutamine complex, and an increase in the amount of choline and phosphoethanolamine relative to water and the amount of creatine in comparison with the reference interval in healthy control beagles. A further genetic testing confirmed LD. Abnormalities in 1HMRS despite the lack of change with conventional MRI identified in dogs with LD.