What is the history of Neurofibromatosis?
When was Neurofibromatosis discovered? What is the story of this discovery? Was it coincidence or not?
Neurofibromatosis (NF) is a genetic disorder that affects the nervous system, causing tumors to form on nerve tissue. It is a relatively rare condition, with an estimated prevalence of 1 in 3,000 to 4,000 individuals worldwide. NF can manifest in different forms, the most common being Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2).
Neurofibromatosis type 1 (NF1) is the more prevalent form, affecting approximately 1 in 3,000 individuals. It was first described by Friedrich Daniel von Recklinghausen, a German pathologist, in 1882. He identified the characteristic tumors, known as neurofibromas, that develop along nerves throughout the body. These tumors are typically benign but can cause various complications depending on their location and size.
Individuals with NF1 may also develop other symptoms, including café-au-lait spots (light brown skin patches), freckling in the armpits or groin, bone deformities, learning disabilities, and a higher risk of developing certain cancers. The severity of NF1 symptoms can vary widely between individuals, even within the same family.
Neurofibromatosis type 2 (NF2) is less common, affecting approximately 1 in 25,000 individuals. It was first described by Cushing and Wolbach in 1928. NF2 is characterized by the development of tumors on the nerves responsible for hearing and balance. These tumors, called vestibular schwannomas or acoustic neuromas, can lead to hearing loss, balance problems, and other neurological issues.
Both NF1 and NF2 are caused by mutations in specific genes. NF1 is caused by mutations in the NF1 gene, which provides instructions for producing a protein called neurofibromin. This protein helps regulate cell growth and division. NF2, on the other hand, is caused by mutations in the NF2 gene, which produces a protein called merlin that acts as a tumor suppressor.
Over the years, researchers have made significant progress in understanding the genetic basis and molecular mechanisms underlying NF. This has led to improved diagnostic techniques and potential therapeutic targets. However, there is currently no cure for NF, and treatment mainly focuses on managing symptoms and complications.
Various organizations and foundations are dedicated to supporting individuals with NF and funding research efforts to find better treatments and ultimately a cure. These initiatives aim to improve the quality of life for those affected by this condition and provide hope for a future where NF is no longer a burden.
The term "neurofibromatosis" comprises a certain number of genetic diseases affecting the cell growth of neural tissues. There are two types of neurofibromatosis : type I and type II. These two forms have similar features and are caused by mutations in different genes.
Type I neurofibromatosis is a dysplasia neurodermal or an abnormality in the development of neuronal tissue. This condition was first described in 1882 by Friederich Daniel Von Recklinghausen, where the current name of this pathology.
The alterations of the neural tissue appear from the embryonic development.
Neurofibromatosis type I is the most common form of neurofibromatosis with 90 % of the cases are of type I. It is also a human genetic disease the most common with a prevalence (number of cases in a given population at a given time), amounting to 1/3, 000 births. Moreover, no predominance was observed between men and women. (2)
The disease of Recklinghausen, is a hereditary genetic disease whose mode of transmission is autosomal dominant. Or, a key chromosome non-sexual and that the presence of only one of the two copies of the mutated gene is sufficient for the subject to develop the disease. This disease is the consequence of alterations at the level of the NF1 gene located on chromosome 17q11.2.
Posted Oct 11, 2017 by Robert 1750
