Related Experiment Video

Updated: Jun 1, 2026

Concanavalin A-Based Sedimentation Assay to Measure Substrate Binding of Glucan Phosphatases
09:07

Concanavalin A-Based Sedimentation Assay to Measure Substrate Binding of Glucan Phosphatases

Published on: December 23, 2022

Lafora disease: a case report, pathologic and genetic study

M H Harirchian1, E Esmailee Shandiz, J Turnbull

  • 1Iranian Center of Neurological Research, Tehran University of Medical Science, Tehran, Iran.

Indian Journal of Pathology & Microbiology
|May 31, 2011
PubMed

Insights

Genetic testing identified a specific mutation in EPM2A, aiding in the diagnosis of Lafora disease (LD). This molecular approach complements histopathology for accurate LD diagnosis.

Area of Science:

  • Neuroscience
  • Genetics
  • Pathology

Background:

  • Lafora disease (LD) is a rare, fatal neurodegenerative disorder characterized by myoclonus, epilepsy, and dementia.
  • Diagnostic challenges exist, often relying on histopathological findings which may not be definitive.
  • Genetic analysis offers a precise method for diagnosing LD.

Observation:

  • A 19-year-old male presented with progressive myoclonic seizures, speech disorder, photosensitivity, visual disturbances, ataxia, and severe dementia.
  • Axillary skin biopsy revealed characteristic periodic acid-Schiff positive inclusion bodies in apocrine sweat glands.
  • Molecular screening identified a homozygous R241X mutation in the EPM2A gene.

Findings:

  • The identified homozygous R241X mutation in EPM2A confirms the diagnosis of Lafora disease.
  • Genotyping provides a definitive diagnostic tool for LD, overcoming limitations of histopathology alone.
  • This study contributes to understanding mutation distribution in LD patients regionally.

Implications:

  • Genetic confirmation of Lafora disease is crucial for accurate diagnosis and patient management.
  • Molecular screening broadens diagnostic capabilities for rare genetic neurological disorders.
  • Understanding mutation prevalence aids in genetic counseling and research for Lafora disease.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.