neurodegenerative diseases/癲癇性発作

The increasing prevalence of dementia is a serious threat to our medical system and our society. About 500,000 Canadians are affected with dementia, and this number will rise to more than 1 million in the next 20 years. Dementia already costs our economy 15 billion dollars per year. While much of

Mitochondria are essential for a wide range of functions in almost every cell in our body. Best known for their role in adenosine triphosphate (ATP) production, mitochondria are also closely involved in a wide variety of cell functions such as calcium buffering, redox regulation, apoptosis and

Although postoperative cognitive dysfunction (POKD) is the most common neurological complication in patients undergoing coronary artery bypass grafting (CABG) surgery, its pathophysiology is still not fully understood. However, the quality of this dysfunction has not been properly measured. In

Neuronal Ceroid Lipofuscinosis (NCL) are comprised of a group of fatal neurodegenerative diseases caused by mutations in an enzyme or protein which results in the accumulation of toxic deposits in the eye, brain, skin, muscle and other cells. CLN7 is a type of NCL caused by homozygous or bi-allelic

CLN2 disease is a predominantly late infantile form of neuronal ceroid lipofuscinosis and one of the many genetic isoforms of Batten disease. Mutations in the CLN2 gene are characterized by deficient lysosomal serine protease TPP1, an enzyme that metabolizes intracellular lysosomal storage

Epilepsy is a chronic neurological disorder diagnosed in about 1% of the population, or c. 400,000 patients in Poland. Autoimmune refractory epilepsy is rare but most disabled epilepsy leading to developmental regression. The belief in a positive effect of ADRCs in drug-resistant epilepsy comes from

Alzheimer disease is the most common of the neurodegenerative diseases. Epilepsy and sleep wake disorders are co-morbid conditions of Alzheimer disease, and there is evidence to suggest that the interactions are bidirectional. Neuronal activity promotes the production and secretion of amyloid β,

The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology, in order to understand the potential value of WGS in establishing a genetic diagnosis. The study will examine

Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease, CLN3) is a recessive, fatal, lysosomal storage disease that results in progressive neurodegeneration. In aggregate, the 13 disorders of neuronal ceroid lipofuscinosis are considered the most common neurodegenerative disorders in children with

Objective: The mission of Human Brain Collection Core (HBCC) is to gain insight into the causes and mechanisms of mental disorders. Study Population: To be able to conduct this research, we obtain brain and other tissues from deceased individuals with and without psychiatric disorders. Study Design:

Neuronal Ceroid Lipofuscinosis (NCL) is the most common childhood neurodegenerative disorder characterized by accumulation of autofluorescent waxy lipopigments in the brain and other tissues. The symptoms manifest as blindness, seizures, ataxia, myoclonus and loss of milestones or dementia. This

The increasing prevalence of dementia is a serious threat to the medical system and society. About 500,000 Canadians are affected with dementia, and this number will rise to more than 1 million in the next 20 years. Dementia already costs the Canadian economy 15 billion dollars per year. While much

Injured articular cartilage has limited capacity for self repair. Without timely, early and effective treatment, damage to the articular cartilage progressively worsens, resulting in joint swelling, pain and dysfunction. The patient ultimately develops osteoarthritis and will be required to undergo

Electroconvulsive therapy (ECT) induces a cerebral seizure by electrical stimulation under general anesthesia and muscle relaxation, is regarded as a highly efficient (for specific and severe psychiatric disorders) and extremely safe modern treatment option. Alzheimer´s disease (AD) is a

Neuronal Ceroid Lipofuscinosis (NCL) is the most common neurodegenerative disorder in children characterized by seizures, blindness, ataxia, myoclonia and loss of cognition. There are 12 clinical types identified with a concurrent genetic abnormality. The diagnosis is determined by gene testing and