Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations

Sicotte, Nancy L.; Salamon, G; Shattuck, David W.; Hageman, Nathan; Rüb, Udo; Salamon, Noriko; Drain, A. E.; Demer, Joseph L.; Engle, Elizabeth C.; Alger, Jeffry R.; Baloh, Robert W.; Deller, Thomas; Jen, Joanna C.

doi:10.1212/01.wnl.0000227960.38262.0c

Cited by 80 publications

(65 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The pons is hypoplastic and has a dorsal midline cleft with absence of the bulging contour of facial colliculi (69). Diffusion tensor imaging typically shows the absence of decussation of the corticospinal tracts, pontine sensory tracts, and superior cerebellar peduncles (70).…”

Section: Cerebellar Agenesismentioning

confidence: 99%

Congenital Abnormalities of the Posterior Fossa

Bosemani¹,

Orman²,

Boltshauser³

et al. 2015

RadioGraphics

165

104

View full text Add to dashboard Cite

Section: Cerebellar Agenesismentioning

confidence: 99%

Congenital Abnormalities of the Posterior Fossa

Bosemani¹,

Orman²,

Boltshauser³

et al. 2015

RadioGraphics

165

104

View full text Add to dashboard Cite

“…DTI has recently been used to identify and characterize novel defects in axonal growth and guidance in developmental disorders, such as the absence of normally decussating pontocerebellar fibers in horizontal gaze palsy with progressive scoliosis due to mutation of the ROBO3 gene 102 and the ectopic location of pontocerebellar fibers in pontine tegmental cap dysplasia. 103 An aberrant fiber pathway known as the "asymmetric sigmoid bundle" was first identified with DTI fiber tracking in individuals with dysgenesis of the corpus callosum.…”

Section: Dti Fiber Tracking: Clinical Applicationsmentioning

confidence: 99%

Diffusion Tensor MR Imaging and Fiber Tractography: Theoretic Underpinnings

Mukherjee¹,

Berman²,

Chung³

et al. 2008

AJNR Am J Neuroradiol

442

312

View full text Add to dashboard Cite

SUMMARY:In this article, the underlying theory of clinical diffusion MR imaging, including diffusion tensor imaging (DTI) and fiber tractography, is reviewed. First, a brief explanation of the basic physics of diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) mapping is provided. This is followed by an overview of the additional information that can be derived from the diffusion tensor, including diffusion anisotropy, color-encoded fiber orientation maps, and 3D fiber tractography. This article provides the requisite background for the second article in this 2-part review to appear next month, which covers the major technical factors that affect image quality in diffusion MR imaging, including the acquisition sequence, magnet field strength, gradient amplitude and slew rate, and multichannel radio-frequency coils and parallel imaging. The emphasis is on optimizing these factors for state-of-the-art DWI and DTI based on the best available evidence in the literature. Diffusion MR imaging of the brain was first adopted for use in clinical neuroradiology during the early 1990s and was found to have immediate utility for the evaluation of suspected acute ischemic stroke. Since that time, enormous strides forward in the technology of diffusion imaging have greatly improved image quality and enabled many new clinical applications. These include the diagnosis of intracranial pyogenic infections, masses, trauma, and vasogenic-versus-cytotoxic edema. Furthermore, the advent of diffusion tensor imaging (DTI) and fiber tractography has opened an entirely new noninvasive window on the white matter connectivity of the human brain. DTI and fiber tractography have already advanced the scientific understanding of many neurologic and psychiatric disorders and have been applied clinically for the presurgical mapping of eloquent white matter tracts before intracranial mass resections.This 2-part review explores the current state of the art for the acquisition and analysis of clinical diffusion imaging, including DTI and fiber tractography. This first article begins with an explanation of the basic physics and underlying theory of diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) mapping. This is followed by an overview of the additional information that can be derived from the diffusion tensor, including diffusion anisotropy, color-encoded fiber-orientation maps, and 3D fiber tractography. This article provides the necessary background for the second article, which focuses on the major technical factors that affect image quality in diffusion imaging, with an emphasis on optimizing these factors for state-of-the-art DWI and DTI based on the best available evidence in the literature. Theoretic Underpinnings of Diffusion ImagingBrownian Motion and Tissue Ultrastructure Diffusion, also known as "Brownian motion," refers to constant random microscopic molecular motion due to heat. At a fixed temperature, the rate of diffusion can be described by the Einstein equation 1 :where Ͻr 2 Ͼ refers...

show abstract

“…In the rodent nervous system, orthologous Robo1 and Robo2 genes (Kidd et al, 1998a) and a structurally divergent Robo3 gene (Yuan et al, 1999) are expressed. In humans, mutations of ROBO3 impair crossing of somatosensory and motor pathways, as was demonstrated in patients with a syndrome of horizontal gaze palsy with progressive scoliosis (Jen et al, 2004;Sicotte et al, 2006;Avadhani et al, 2010;Ng et al, 2011). However, the neurodevelopmental roles of the human ROBO2 and ROBO1 genes remain unclear, apart from the suggested involvement of ROBO1 in dyslexia (Hannula-Jouppi et al, 2005) and possibly in autism (Anitha et al, 2008); the linkage between dyslexia and the genomic region (3p13) near ROBO1 has also been demonstrated in a large genome-wide scan (Fisher et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

HumanROBO1Regulates Interaural Interaction in Auditory Pathways

et al. 2012

View full text Add to dashboard Cite

In rodents, the Robo1 gene regulates midline crossing of major nerve tracts, a fundamental property of the mammalian CNS. However, the neurodevelopmental function of the human ROBO1 gene remains unknown, apart from a suggested role in dyslexia. We therefore studied axonal crossing with a functional approach, based on magnetoencephalography, in 10 dyslexic individuals who all share the same rare, weakly expressing haplotype of the ROBO1 gene. Auditory-cortex responses were recorded separately to left-and right-ear sounds that were amplitude modulated at different frequencies. We found impaired interaural interaction that depended on the ROBO1 in a dosedependent manner. Our results indicate that normal crossing of the auditory pathways requires an adequate ROBO1 expression level.

show abstract

Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations

Cited by 80 publications

References 11 publications

Congenital Abnormalities of the Posterior Fossa

Congenital Abnormalities of the Posterior Fossa

Diffusion Tensor MR Imaging and Fiber Tractography: Theoretic Underpinnings

HumanROBO1Regulates Interaural Interaction in Auditory Pathways

Contact Info

Product

Resources

About