Reduced Cerebral Arterial Spin-Labeled Perfusion in Children with Neurofibromatosis Type 1

Yeom, Kristen W.; Lober, Robert M.; Barnes, Patrick D.; Campen, Cynthia J.

doi:10.3174/ajnr.a3649

Cited by 11 publications

(11 citation statements)

References 38 publications

(49 reference statements)

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“…). Yeom et al have shown decreased CBF in a cohort of NF1 patients without steno‐occlusion or Moyamoya disease, particularly in the posterior circulation and borderzones, which they propose might be due to vasculopathy in cerebral microvasculature or alteration in cerebral metabolic demand (Fig. ).…”

Section: Disorders Of Decreased Cbfmentioning

confidence: 99%

Arterial spin labeling MRI: Clinical applications in the brain

Telischak

Detre

Zaharchuk

2014

J. Magn. Reson. Imaging

171

127

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Visualization of cerebral blood flow (CBF) has become an important part of neuroimaging for a wide range of diseases. Arterial spin labeling (ASL) perfusion magnetic resonance imaging (MRI) sequences are increasingly being used to provide MR-based CBF quantification without the need for contrast administration, and can be obtained in conjunction with a structural MRI study. ASL MRI is useful for evaluating cerebrovascular disease including arterio-occlusive disease, vascular shunts, for assessing primary and secondary malignancy, and as a biomarker for neuronal metabolism in other disorders such as seizures and neurodegeneration. In this review we briefly outline the various ASL techniques including advantages and disadvantages of each, methodology for clinical interpretation, and clinical applications with specific examples.

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Section: Disorders Of Decreased Cbfmentioning

confidence: 99%

Arterial spin labeling MRI: Clinical applications in the brain

Telischak

Detre

Zaharchuk

2014

J. Magn. Reson. Imaging

171

127

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“…Recent diffusion tensor imaging (DTI) study in human NF1 [ 11 ] demonstrated increased apparent diffusion coefficient (ADC) values localised in the caudate and other deep grey nuclei, diencephalon and frontal white matter in NF1 children compared to controls, consistent with decreased neuronal density or myelin sheath disorganisation; the extent of these effects was associated with neurological symptoms. Other imaging studies in human NF1 have identified reduced cortical GABA [ 12 , 13 ], reduced cerebral perfusion [ 14 ], alteration in diffusion-weighted imaging [ 15 ] and abnormal network connectivity on resting state fMRI [ 16 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA)

Stivaros

Garg²,

Tziraki

et al. 2018

Molecular Autism

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BackgroundNeurofibromatosis 1 (NF1) is a monogenic model for syndromic autism. Statins rescue the social and cognitive phenotype in animal knockout models, but translational trials with subjects > 8 years using cognition/behaviour outcomes have shown mixed results. This trial breaks new ground by studying statin effects for the first time in younger children with NF1 and co-morbid autism and by using multiparametric imaging outcomes.MethodsA single-site triple-blind RCT of simvastatin vs. placebo was done. Assessment (baseline and 12-week endpoint) included peripheral MAPK assay, awake magnetic resonance imaging spectroscopy (MRS; GABA and glutamate+glutamine (Glx)), arterial spin labelling (ASL), apparent diffusion coefficient (ADC), resting state functional MRI, and autism behavioural outcomes (Aberrant Behaviour Checklist and Clinical Global Impression).ResultsThirty subjects had a mean age of 8.1 years (SD 1.8). Simvastatin was well tolerated. The amount of imaging data varied by test. Simvastatin treatment was associated with (i) increased frontal white matter MRS GABA (t(12) = − 2.12, p = .055), GABA/Glx ratio (t(12) = − 2.78, p = .016), and reduced grey nuclei Glx (ANCOVA p < 0.05, Mann-Whitney p < 0.01); (ii) increased ASL perfusion in ventral diencephalon (Mann-Whitney p < 0.01); and (iii) decreased ADC in cingulate gyrus (Mann-Whitney p < 0.01). Machine-learning classification of imaging outcomes achieved 79% (p < .05) accuracy differentiating groups at endpoint against chance level (64%, p = 0.25) at baseline. Three of 12 (25%) simvastatin cases compared to none in placebo met ‘clinical responder’ criteria for behavioural outcome.ConclusionsWe show feasibility of peripheral MAPK assay and autism symptom measurement, but the study was not powered to test effectiveness. Multiparametric imaging suggests possible simvastatin effects in brain areas previously associated with NF1 pathophysiology and the social brain network.Trial registrationEU Clinical Trial Register (EudraCT) 2012-005742-38 (www.clinicaltrialsregister.eu)Electronic supplementary materialThe online version of this article (10.1186/s13229-018-0190-z) contains supplementary material, which is available to authorized users.

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“…While volumetric and diffusion analysis can be used to probe macro-and microstructural changes, respectively, arterial spinlabeling (ASL) cerebral blood flow is increasingly used clinically to obtain advanced physiologic information. [15][16][17][18] ASL may be particularly useful in the pediatric population because it does not require intravenous contrast or ionizing radiation. However, only a few studies have examined ASL CBF changes in children.…”

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confidence: 99%