Related Experiment Video
Updated: Jun 22, 2026
10:12
Isolation of Cardiomyocyte Nuclei from Post-mortem Tissue
Published on: July 10, 2012
Death in Unverricht-Lundborg disease
Hela Mrabet Khiari1, Silvana Franceschetti, Nebojsa Jovic
1Neurological Department, Charles Nicolle Hospital, Boulevard 9 Avril, 1006, Tunis, Tunisia. helamrabet@yahoo.com
Summary
Unverricht-Lundborg disease (ULD), a form of epilepsy, still carries a high risk of early death. Sudden Unexpected Death in Epilepsy (SUDEP) and severe ULD complications are leading causes, even with improved prognoses.
Area of Science:
- Neurology
- Epileptology
- Clinical Medicine
Background:
- Unverricht-Lundborg disease (ULD) is a progressive myoclonus epilepsy, often considered to have a relatively benign prognosis.
- However, unexpected mortality in ULD patients warrants further investigation to understand contributing factors.
Purpose of the Study:
- To investigate and report the circumstances surrounding unexpected deaths in patients diagnosed with Unverricht-Lundborg disease.
- To identify common causes of mortality and risk factors associated with early death in ULD.
Main Methods:
- A multicentric retrospective study was conducted over 16 years, collecting data from four international centers.
- Information gathered included patient demographics, disease severity and duration, antiepileptic drug regimens, and presumed causes of death.
Main Results:
- Nineteen cases of death were analyzed (12 females, 7 males).
- The primary causes of death were Sudden Unexpected Death in Epilepsy (SUDEP) (six cases, all female, 4/6 on phenobarbital monotherapy) and complications of severe ULD (six cases).
- Other causes included suicide (two cases), stroke, drowning, chronic alcoholism complications, and Wernicke encephalopathy.
Conclusions:
- Despite advancements, severe forms of ULD persist, posing a significant risk of premature mortality.
- Sudden Unexpected Death in Epilepsy (SUDEP) remains a critical concern in ULD patient management.
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,...
01:26Diseases of the Liver and Gallbladder
Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
01:24Graves Disease II: Pathophysiology
Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...
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...