Magnetic resonance imaging. Its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome

Truhan, Andrew P.; Filipek, Pauline A.

doi:10.1001/archderm.129.2.219

Cited by 21 publications

(9 citation statements)

References 62 publications

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“…Neuroanatomic studies of NF1 patients are characterized by widely distributed areas of increased signal intensity on MRI (UBOs; (Truhan and Filipek 1993)), as well as macrocephaly involving both gray and white matter (e.g., (Moore et al 2000; Cutting et al 2002; Margariti et al 2007; Greenwood et al 2005; Steen et al 2001) and enlarged CC area (Kayl et al 2000; Margariti et al 2007; Dubovsky et al 2001) relative to controls. The rostral body, anterior midbody, and posterior midbody were significantly larger in NF1 than controls (Kayl et al 2000).…”

Section: Why Study the Cc?mentioning

confidence: 99%

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

Paul

2010

J Neurodevelop Disord

214

189

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This review provides an overview of the involvement of the corpus callosum (CC) in a variety of developmental disorders that are currently defined exclusively by genetics, developmental insult, and/or behavior. I begin with a general review of CC development, connectivity, and function, followed by discussion of the research methods typically utilized to study the callosum. The bulk of the review concentrates on specific developmental disorders, beginning with agenesis of the corpus callosum (AgCC)—the only condition diagnosed exclusively by callosal anatomy. This is followed by a review of several genetic disorders that commonly result in social impairments and/or psychopathology similar to AgCC (neurofibromatosis-1, Turner syndrome, 22q11.2 deletion syndrome, Williams yndrome, and fragile X) and two forms of prenatal injury (premature birth, fetal alcohol syndrome) known to impact callosal development. Finally, I examine callosal involvement in several common developmental disorders defined exclusively by behavioral patterns (developmental language delay, dyslexia, attention-deficit hyperactive disorder, autism spectrum disorders, and Tourette syndrome).

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Section: Why Study the Cc?mentioning

confidence: 99%

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

Paul

2010

J Neurodevelop Disord

214

189

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“…N. North et al, 1997), with the most commonly reported findings being visuo-perceptual deficits, executive dysfunction, motor coordination problems, and borderline to low average IQ (e.g., K. N. North et al, 1997;Ozonoff, 1999). MRI scans of human NF1 patients have revealed areas of increased signal intensity, known as unidentified bright objects (UBOs; Truhan & Filipek, 1993) which occur throughout the brain, but are especially prominent in the basal ganglia and cerebellum. Some studies, but not others, have reported a significant correlation between the presence of UBOs and cognitive deficits in NF1 (Denckla et al, 1996;K.…”

Section: Neurofibromatosis Type I (Nf1)-nf1 or Vonmentioning

confidence: 99%

Neural phenotypes of common and rare genetic variants

Bearden

Glahn

Lee

et al. 2008

Biological Psychology

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Neuroimaging methods offer a powerful way to bridge the gaps between genes, neurobiology and behavior. Such investigations may be further empowered by complementary strategies involving chromosomal abnormalities associated with particular neurobehavioral phenotypes, which can help to localize causative genes and better understand the genetics of complex traits in the general population. Here we review the evidence from studies using these convergent approaches to investigate genetic influences on brain structure: 1) Studies of common genetic variation associated with particular neuroanatomic phenotypes, and 2) Studies of possible 'genetic subtypes' of neuropsychiatric disorders with very high penetrance, with a focus on neuroimaging studies using novel computational brain mapping algorithms. Finally, we discuss the contribution of behavioral neurogenetics research to our understanding of the genetic basis of neuropsychiatric disorders in the broader population.

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“…Imaging studies, which should be tailored to particular symptoms, may include spine and limb roentgenographic studies and, when warranted, neuroimaging (magnetic resonance imaging [MRI]/computed tomography [CT] ). 22 Areas of increased T-2 signal intensity (Fig. 7) have been demonstrated in approximately 90% of children with NFI, but their significance is unknown.…”

Section: Developmental Delaymentioning

confidence: 99%

Neurofibromatosis Type 1—An Update and Review for the Primary Pediatrician

Goldberg

Dibbern²,

Klein

et al. 1996

Clin Pediatr (Phila)

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With an incidence of 1 in 3,000, neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is one of the most common genetic disorders encountered by primary care physicians. NF1 is a multisystem disease that affects more than one million people worldwide (more than 80,000 in the United States). Although most pediatricians have patients with NF1 in their practices, many affected individuals go undiagnosed as children. This article is intended to facilitate the diagnosis and management of young patients with NF1.

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Magnetic resonance imaging. Its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome

Cited by 21 publications

References 62 publications

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

Neural phenotypes of common and rare genetic variants

Neurofibromatosis Type 1—An Update and Review for the Primary Pediatrician

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