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Neurofibromatosis type I is the most common of the three types and is caused by genetic changes in the NF1 gene located on chromosome 17 (17q11.2). This gene encodes a cytoplasmic protein known the neurofibromin, which functions as a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation.
Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system human disorder caused by the mutation of neurofibromin 1 (NF-1), a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. NF-1 causes tumors along the nervous ...
Frequency. rare (estimated at 1:46,000-1:75,000) [2] Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. [3] It was first described in 2007 and is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene. [5][6] It is also known as neurofibromatosis type 1-like syndrome.
Neurofibromatosis type II (NF2 or NF II) is caused by mutations of the "Merlin" gene, [2] which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell ...
1952 edition of the DSM (DSM-I) The Diagnostic and Statistical Manual of Mental Disorders (DSM; latest edition: DSM-5-TR, published in March 2022 [1]) is a publication by the American Psychiatric Association (APA) for the classification of mental disorders using a common language and standard criteria. It is an internationally accepted manual ...
A core part of neuropsychological assessment is the administration of neuropsychological tests for the formal assessment of cognitive function, though neuropsychological testing is more than the administration and scoring of tests and screening tools. It is essential that neuropsychological assessment also include an evaluation of the person's ...
Frequency. 1 in 1000 (1 in 2,000 severe disease) [4] Named after. Jacqueline Noonan. Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. [1] Facial features include widely spaced eyes, light-colored eyes, low-set ...
DSM-5. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), is the 2013 update to the Diagnostic and Statistical Manual of Mental Disorders, the taxonomic and diagnostic tool published by the American Psychiatric Association (APA). In 2022, a revised version (DSM-5-TR) was published. [1]