ArticleAJNR. American journal of neuroradiology2001
Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities.
Article in AJNR. American journal of neuroradiology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 86 citations in OpenAlex.
- Gut microbiome alterations are sex-dependently associated with brain abnormalities in a mouse model of Neurofibromatosis type I.Molecular psychiatry · 2026Article
- Article
- Multiparametric whole-body MRI of patients with neurofibromatosis type I: spectrum of imaging findings.Skeletal radiology · 2025Review
- Unraveling neuronal and metabolic alterations in neurofibromatosis type 1.Journal of neurodevelopmental disorders · 2024Review
- The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis.Acta neurologica Belgica · 2024Article
- Review
- White matter is increased in the brains of adults with neurofibromatosis 1.Orphanet journal of rare diseases · 2022Article
- Alterations in brain morphology by MRI in adults with neurofibromatosis 1.Orphanet journal of rare diseases · 2021Article
- Quantitative T1 mapping of the normal brain from early infancy to adulthood.Pediatric radiology · 2021Article
- Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders.Behavior genetics · 2020Review
- Article
- Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A Review.Frontiers in neurology · 2019Review
- Medullary unidentified bright objects in Neurofibromatosis type 1: a case series.BMC pediatrics · 2018Article
- Imaging genetics in neurodevelopmental psychopathology.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Review
- Brain and behaviour phenotyping of a mouse model of neurofibromatosis type-1: an MRI/DTI study on social cognition.Genes, brain, and behavior · 2016Article
- Functional Connectivity Changes and Executive and Social Problems in Neurofibromatosis Type I.Brain connectivity · 2015Article
- Treatment of neurofibromatosis type 1.Current treatment options in neurology · 2015Article
- Intercostal aneurysm causing spinal cord compression in an NF1 patient.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2015Article
- Cerebral volumetric abnormalities in Neurofibromatosis type 1: associations with parent ratings of social and attention problems, executive dysfunction, and autistic mannerisms.Journal of neurodevelopmental disorders · 2015Article
- The genetic and neuroanatomical basis of social dysfunction: lessons from neurofibromatosis type 1.Human brain mapping · 2014Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
background and purposeMutation of the neurofibromatosis type 1 (NF-1) gene may be associated with abnormal growth control in the brain. Because macrocephaly could be a sign of abnormal brain development and because 30% to 50% of children with NF-1 display macrocephaly in the absence of hydrocephalus, we sought to determine the relationship between macrocephaly and other brain abnormalities in young subjects with NF-1. These subjects were free of brain tumor, epilepsy, or other obvious neurologic problems.
methodsWe prospectively screened 18 neurologically asymptomatic subjects with NF-1, ages 6 to 16 years, using clinical measures, psychometric testing, conventional MR imaging, and quantitative MR imaging to measure T1.
resultsCranial circumference was 2 or more SDs above the age norm in seven (39%) of 18 subjects, a frequency of macrocephaly 17-fold higher than normal. Conventional MR imaging showed abnormalities in all 18 children, although there were more extensive abnormalities in subjects with macrocephaly. Macrocephaly in NF-1 was associated with enlargement of multiple brain structures, and brain T1 in macrocephalic subjects was reduced with respect to controls in the genu, frontal white matter, caudate, putamen, thalamus, and cortex. In normocephalic subjects, T1 was reduced only in the genu and splenium. Volumetric analysis showed that macrocephaly was associated specifically with enlargement of white matter volume.
conclusionNeurologically asymptomatic children with NF-1 showed macrocephaly, cognitive deficit, enlarged brain structures, and abnormally low brain T1. Macrocephaly in children with NF-1 may be associated with characteristic alterations in brain development, marked by more widespread and significant changes in T1, greater enlargement of midline structures, and greater volume of white matter.
Indexed as
Identifiers
11337320PMC8174959W2124997829What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.