Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. ... Further research into genotype-phenotype correlations is needed before such predictions can be made. There is a paucity of available medical treatments but ongoing trials hold promise in treating both the cutaneous and non ...
Neurofibromatosis type 1: a multidisciplinary approach to care
Neurofibromatosis type 1 is a relatively common inherited disorder that affects about one in 2500 to one in 3000 people worldwide, irrespective of sex or ethnic origin. 1,2 Individuals with neurofibromatosis type 1 are prone to develop benign and malignant tumours of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. 3 Tumours that are ...
Neurofibromatosis type 1: New developments in genetics and treatment
Neurofibromatosis type 1 is the most common neurocutaneous syndrome, with a frequency of 1 in 2500 persons. Diagnosis is paramount in the pretumor stage to provide proper anticipatory guidance for a number of neoplasms, both benign and malignant. Loss-of-function mutations in the NF1 gene result in truncated and nonfunctional production of neurofibromin, a tumor suppressor protein involved in ...
Incidence and prevalence of neurofibromatosis type 1 and 2: a
Objective To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2). Study design We conducted a systematic search of NF1 and NF2 incidence or prevalence studies, in OVID Medline, OVID Embase, Web of Science, and Cinahl. Studies were appraised with the Joanna Briggs Institute Prevalence Critical Appraisal tool. Pooled incidence and ...
Translating current basic research into future therapies for
Neurofibromatosis type 1 (NF1) is a hereditary tumour syndrome that predisposes to benign and malignant tumours originating from neural crest cells. Biallelic inactivation of the tumour-suppressor ...
Unraveling neuronal and metabolic alterations in neurofibromatosis type 1
Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology ...
Revised diagnostic criteria for neurofibromatosis type 1 and Legius
Nomenclature and history. Neurofibromatosis type 1 (NF1; OMIM 613113), inherited in an autosomal dominant pattern, is characterized by multiple café-au-lait macules (CALMs), skinfold freckling ...
Neurofibromatosis type 1
In children and adolescents with neurofibromatosis type 1, research findings indicate reduced QOL relative to population norms 173,175-177, and parent-reported ratings tend to yield lower scores ...
Neurofibromatosis type 1 system-based manifestations and ...
Introduction Neurofibromatosis type 1 (NF1) is a genetic disorder caused by a mutation in the NF1 gene. This disease presents with various system-based manifestations, including cardiac, musculoskeletal, and neuronal issues, which have been well-studied in previous research and have prompted the development of current and emerging treatments. These treatments, mainly medications targeting ...
Neurofibromatosis type 1: New developments in genetics and treatment
NF1 is relatively common, with a birth incidence from 1 in 2500 to 1 in 5000. 5, 6 Ethnic differences may exist in penetrance and expressivity. For instance, individuals of African and Asian descent are less likely to develop pediatric brain tumors than those of European lineage because of the difference in frequency of risk alleles. 7 Although NF1 is inherited in an autosomal dominant fashion ...
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Neurofibromatosis type 1 (NF1) is an autosomal dominant, multisystem disorder affecting approximately 1 in 3500 people. ... Further research into genotype-phenotype correlations is needed before such predictions can be made. There is a paucity of available medical treatments but ongoing trials hold promise in treating both the cutaneous and non ...
Neurofibromatosis type 1 is a relatively common inherited disorder that affects about one in 2500 to one in 3000 people worldwide, irrespective of sex or ethnic origin. 1,2 Individuals with neurofibromatosis type 1 are prone to develop benign and malignant tumours of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. 3 Tumours that are ...
Neurofibromatosis type 1 is the most common neurocutaneous syndrome, with a frequency of 1 in 2500 persons. Diagnosis is paramount in the pretumor stage to provide proper anticipatory guidance for a number of neoplasms, both benign and malignant. Loss-of-function mutations in the NF1 gene result in truncated and nonfunctional production of neurofibromin, a tumor suppressor protein involved in ...
Objective To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2). Study design We conducted a systematic search of NF1 and NF2 incidence or prevalence studies, in OVID Medline, OVID Embase, Web of Science, and Cinahl. Studies were appraised with the Joanna Briggs Institute Prevalence Critical Appraisal tool. Pooled incidence and ...
Neurofibromatosis type 1 (NF1) is a hereditary tumour syndrome that predisposes to benign and malignant tumours originating from neural crest cells. Biallelic inactivation of the tumour-suppressor ...
Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology ...
Nomenclature and history. Neurofibromatosis type 1 (NF1; OMIM 613113), inherited in an autosomal dominant pattern, is characterized by multiple café-au-lait macules (CALMs), skinfold freckling ...
In children and adolescents with neurofibromatosis type 1, research findings indicate reduced QOL relative to population norms 173,175-177, and parent-reported ratings tend to yield lower scores ...
Introduction Neurofibromatosis type 1 (NF1) is a genetic disorder caused by a mutation in the NF1 gene. This disease presents with various system-based manifestations, including cardiac, musculoskeletal, and neuronal issues, which have been well-studied in previous research and have prompted the development of current and emerging treatments. These treatments, mainly medications targeting ...
NF1 is relatively common, with a birth incidence from 1 in 2500 to 1 in 5000. 5, 6 Ethnic differences may exist in penetrance and expressivity. For instance, individuals of African and Asian descent are less likely to develop pediatric brain tumors than those of European lineage because of the difference in frequency of risk alleles. 7 Although NF1 is inherited in an autosomal dominant fashion ...