Timeline of tuberous sclerosis

Désiré-Magloire Bourneville

Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the growth of noncancerous (benign) tumors in many parts of the body. Commonly affected areas include the brain, skin, kidneys, heart, eyes, and lungs. These tumors can cause a variety of health problems, depending on their location and size. TSC is caused by mutations in either the TSC1 or TSC2 genes, which are involved in cell growth and regulation. The timeline of tuberous sclerosis encompasses the history of the disease's discovery, understanding, and treatment advancements.

Timeline

19th Century

• 1862 - Désiré-Magloire Bourneville, a French neurologist, provides the first clinical description of tuberous sclerosis complex, although he did not yet name the condition.
• 1880 - The term "tuberous sclerosis" is coined by Bourneville, derived from the potato-like (tuberous) appearance of the growths observed in the brain.

20th Century

• 1908 - The triad of seizures, intellectual disability, and facial angiofibromas, later known as the classic diagnostic criteria for TSC, is identified.
• 1913 - The first genetic study of TSC suggests it follows an autosomal dominant pattern of inheritance.
• 1950s - Advances in neurology and genetics lead to a better understanding of the disease's manifestations and genetic basis.
• 1979 - The TSC National Conference in the United States is established, marking a significant step towards organized advocacy and support for individuals with TSC and their families.
• 1987 - The identification of the TSC2 gene on chromosome 16 marks a significant breakthrough in understanding the genetic basis of the disease.
• 1990s - Advances in magnetic resonance imaging (MRI) technology significantly improve the diagnosis and monitoring of TSC-related tumors.

21st Century

• 2000 - The TSC1 gene is identified on chromosome 9, further elucidating the genetic underpinnings of the disorder.
• 2002 - The first international TSC consensus conference is held, leading to the development of standardized diagnostic criteria and management guidelines.
• 2010 - The U.S. Food and Drug Administration (FDA) approves mTOR inhibitors, a class of drugs, for the treatment of certain manifestations of TSC, marking a significant advancement in the management of the disease.
• 2017 - Updated diagnostic criteria and recommendations for the management of TSC are published, reflecting advances in understanding and treating the disease.

Current Research and Future Directions

Research into TSC continues to evolve, with ongoing studies aimed at understanding the molecular mechanisms underlying the disease, improving diagnostic methods, and developing more effective treatments. Gene therapy and personalized medicine approaches are among the promising areas of research that may offer new hope for individuals with TSC.

See Also

• Genetic disorders
• Neurocutaneous syndromes
• mTOR pathway