Related Experiment Video
Updated: Jul 19, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Unverricht-Lundborg disease (PME1)]
1Centre Saint-Paul--H. Gastaut, Marseille. piergen@aol.com
Revue Neurologique
|October 10, 2006
Summary
Unverricht-Lundborg disease (ULD) is a rare inherited epilepsy characterized by myoclonus and seizures. Genetic testing confirms ULD, caused by cystatin B deficits, with research ongoing for effective treatments.
Area of Science:
- Genetics
- Neurology
- Biochemistry
Context:
- Unverricht-Lundborg disease (ULD) is a distinct form of progressive myoclonus epilepsy (PME).
- It presents with seizures and myoclonus but lacks cognitive decline.
- The disorder has a variable prevalence, notably high in specific populations.
Purpose:
- To elucidate the genetic basis and clinical characteristics of Unverricht-Lundborg disease.
- To understand the underlying biochemical mechanisms involving cystatin B.
- To provide diagnostic criteria and discuss current limitations in ULD management.
Summary:
- ULD is an autosomal recessive epilepsy caused by mutations in the PME1 gene, leading to cystatin B deficiency.
- Key features include early-onset seizures, action myoclonus, photosensitivity, and ataxia, with symptom stabilization in adulthood.
- Diagnosis relies on clinical presentation, family history, and molecular genetic analysis, with ongoing research into pathogenesis.
Impact:
- Molecular diagnostics confirm ULD, enabling genetic counseling and potential prenatal diagnosis.
- Understanding ULD pathogenesis is crucial for developing targeted, early-stage etiological treatments.
- This research contributes to the broader understanding of inherited epilepsy syndromes and neurological disorders.
More Related Videos
06:23Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
Published on: January 17, 2025
08:22A 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
Related Concept Videos
01:22Lysosomal 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,...
01:24Parkinson Disease l: Introduction
Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
01:21Huntington 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,...
02:23Abnormal Proliferation
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:24Parkinson 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...