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What is the history of Neurofibromatosis?
When was Neurofibromatosis discovered? What is the story of this discovery? Was it coincidence or not?
Translated from french
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The disease of Recklinghausen is also known as neurofibromatosis type I.
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.
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
