Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions

Genetics in Medicine - Tập 1 - Trang 136-140 - 1999
Bruce R. Korf1, Gretchen Schneider1, Tina Young Poussaint2
1Division of Genetics, Children’s Hospital and Harvard Medical School, Boston
2Department of Radiology, Children’s Hospital and Harvard Medical School, Boston

Tài liệu tham khảo

Hofman, 1994, Neurofibromatosis type 1: The cognitive phenotype, J Pediatr, 124, S1, 10.1016/S0022-3476(05)83163-4 North, 1994, Specific learning disability in children with neurofibromatosis type 1: Significance of MRI abnormalities, Neurology, 44, 878, 10.1212/WNL.44.5.878 Eldridge, 1989, Neurofibromatosis type 1 (Recklinghausen’s disease). Neurologic and cognitive assessment with sibling controls, Am J Dis Child, 143, 833, 10.1001/archpedi.1989.02150190083027 Legius, 1994, Neurofibromatosis type 1 in childhood: A study of the neuropsychological profile in 45 children, Genet Couns, 5, 51 North, 1997, Cognitive function and academic performance in neurofibromatosis 1: Consensus statement from the NF1 cognitive disorders task force, Neurology, 48, 1121, 10.1212/WNL.48.4.1121 Huson, 1988, Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales, Brain, 111, 1355, 10.1093/brain/111.6.1355 Carey, 1979, Penetrance and variability in neurofibromatosis: A genetic study of 60 families, Birth Defects: Original Article Series, 15, 271 Rosman, 1967, The brain in multiple neurofibromatosis (von Recklinghausen’s disease): A suggested neuropathological basis for the associated mental defect, Brain, 90, 829, 10.1093/brain/90.4.829 Daston, 1993, Neurofibromin, a predominantly neuronal GTPase activating protein in the adult, is ubiquitously expressed during development, Dev Dyn, 195, 216, 10.1002/aja.1001950307 Daston, 1992, The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells, and oligodendrocytes, Neuron, 8, 415, 10.1016/0896-6273(92)90270-N Es, 1996, MRI findings in children with neurofibromatosis type 1: A prospective study, Pediatr Radiol, 26, 478, 10.1007/BF01377205 Itoh, 1994, Neurofibromatosis type 1: The evolution of deep gray and white matter MR abnormalities, Am J Neuroradiol, 15, 1513 Terada, 1996, Evolution of high-intensity basal ganglia lesions on T1-weighted MR in neurofibromatosis type 1, Am J Neuroradiol, 17, 755 Duffner, 1989, The significance of MRI abnormalities in children with neurofibromatosis, Neurology, 39, 373, 10.1212/WNL.39.3.373 Bognanno, 1988, Cranial MR imaging in neurofibromatosis, Am J Roentgenol, 151, 381, 10.2214/ajr.151.2.381 Denckla, 1996, Reiss al., Bryan RN, Harris EL, Lee J, Cox CS, Schuerholz LJ. Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1, Am J Med Genet, 67, 98, 10.1002/(SICI)1096-8628(19960216)67:1<98::AID-AJMG17>3.0.CO;2-K Ferner, 1993, MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment, J Neurol Neurosurg Psychiatry, 56, 492, 10.1136/jnnp.56.5.492 Kayes, 1992, Sporadic neurofibromatosis 1, mental retardation, and dysmorphism, J Med Genet, 29, 686, 10.1136/jmg.29.10.686 Leppig, 1997, Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata, Am J Med Genet, 73, 197, 10.1002/(SICI)1096-8628(1997)73:2<197::AID-AJMG17>3.0.CO;2-P Leppig, 1996, The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization, Cytogenet Cell Genet, 72, 95, 10.1159/000134171 Wu, 1995, Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations, Am J Med Genet, 59, 528, 10.1002/ajmg.1320590427 Wu, 1997, Deletion of the entire NF1 gene causing distinct manifestations in a family, Am J Med Genet, 69, 98, 10.1002/(SICI)1096-8628(19970303)69:1<98::AID-AJMG19>3.0.CO;2-J Upadhyaya, 1998, Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay, Hum Genet, 102, 591, 10.1007/s004390050746 Sevick, 1992, Evolution of white matter lesions in neurofibromatosis type 1: MR findings, Am J Roentgenol, 159, 171, 10.2214/ajr.159.1.1609692 DiPaolo, 1995, Neurofibromatosis type 1: Pathologic substrate of high-signal-intensity foci in the brain, Radiology, 195, 721, 10.1148/radiology.195.3.7754001 Moore, 1996, Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis, Neurology, 46, 1660, 10.1212/WNL.46.6.1660 Horwich, 1983, Aqueductal stenosis leading to hydrocephalus: An unusual manifestation of neurofibromatosis, Am J Med Genet, 14, 577, 10.1002/ajmg.1320140322 Senveli, 1989, Association of von Recklinghausen’s neurofibromatosis and aqueduct stenosis, Neurosurgery, 24, 99, 10.1227/00006123-198901000-00017 Bodensteiner, 1998, Cavum septum pellucidum and cavum vergae in normal and developmentally delayed populations, J Child Neurol, 13, 120, 10.1177/088307389801300305 Bodensteiner, 1990, Wide cavum septum pellucidum: A marker of disturbed brain development, Pediatr Neurol, 6, 391, 10.1016/0887-8994(90)90007-N Miller, 1986, Cavum vergae: Association of neurologic abnormality and diagnosis by MRI, Arch Neurol, 43, 821, 10.1001/archneur.1986.00520080061022 Bodensteiner, 1988, Macro cistema magna: A marker for maldevelopment of the brain?, Pediatr Neurol, 4, 284, 10.1016/0887-8994(88)90067-7 Korf, 1993, Patterns of seizures observed in association with neurofibromatosis 1, Epilepsia, 34, 616, 10.1111/j.1528-1157.1993.tb00437.x