scholarly journals Alterations in brain morphology by MRI in adults with neurofibromatosis 1

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Su Wang ◽  
Victor-Felix Mautner ◽  
Ralph Buchert ◽  
Stephane Flibotte ◽  
Per Suppa ◽  
...  

Abstract Objective Neurofibromatosis 1 (NF1) is a rare autosomal dominant disease that causes the dysregulated growth of Schwann cells. Most reported studies of brain morphology in NF1 patients have included only children, and clinical implications of the observed changes later in life remain unclear. In this study, we used MRI to characterize brain morphology in adults with NF1. Methods Planar (2D) MRI measurements of 29 intracranial structures were compared in 389 adults with NF1 and 112 age- and sex-matched unaffected control subjects. The 2D measurements were correlated with volumetric (3D) brain measurements in 99 of the adults with NF1 to help interpret the 2D findings. A subset (n = 70) of these NF1 patients also received psychometric testing for attention deficits and IQ and was assessed for clinical severity of NF1 features and neurological problems. Correlation analysis was performed between the MRI measurements and clinical and psychometric features of these patients. Results Four of nine corpus callosum measurements were significantly greater in adults with NF1 than in sex- and age-matched controls. All seven brainstem measurements were significantly greater in adults with NF1 than in controls. Increased corpus callosum and brainstem 2D morphology were correlated with increased total white matter volume among the NF1 patients. No robust correlations were observed between the 2D size of these structures and clinical or neuropsychometric assessments. Conclusion Our findings are consistent with the hypothesis that dysregulation of brain myelin production is an important manifestation of NF1 in adults.

2021 ◽  
Author(s):  
Su Wang ◽  
Victor-Felix Mautner ◽  
Ralph Buchert ◽  
Stephane Flibotte ◽  
Per Suppa ◽  
...  

Abstract Objective: Neurofibromatosis 1 (NF1) is a rare autosomal dominant disease that causes the dysregulated growth of Schwann cells. Most studies focused on brain morphology changes in NF1 were small and only included children, making clinical implications unclear. One consistent finding in children with NF1 has been increased corpus callosum area. We aimed to characterize alterations in brain morphology by MRI in adults with neurofibromatosis 1 (NF1). Methods: Planar (2D) MRI measurements of 29 intracranial structures were compared in 389 adults with NF1 and 112 age- and sex-matched unaffected control subjects. The 2D measurements were correlated to volumetric (3D) brain measurements for 99 of the adults with NF1. A subset of adults with NF1 (n = 70) was also assessed for clinical severity of NF1 features and neurological problems and received psychometric testing for attention deficits and IQ. Correlation analyses were performed between principal components of the intracranial measurements and clinical and psychometric features of these patients. Results:Four of nine corpus callosum measurements were significantly greater in adults with NF1 than in sex- and age-matched controls. All seven brainstem measurements were significantly greater in adults with NF1 than in controls. Increased corpus callosum and brainstem 2D morphology were correlated with increased total white matter volume among the NF1 patients. No robust correlations were observed between the 2D size of these structures and clinical or neuropsychometric assessments.Interpretation:Our findings are consistent with the hypothesis that dysregulation of brain myelin production is an important manifestation of NF1 in adults.


2019 ◽  
Author(s):  
Su Wang ◽  
Victor-Felix Mautner ◽  
Jan M. Friedman ◽  
Manraj K. S. Heran

ABSTRACTObjectiveTo explore and characterize alterations in brain morphology by MRI in adults with neurofibromatosis 1 (NF1).MethodsMRI measurements of 29 intracranial structures were obtained for 389 adults with NF1 and 112 age- and sex-matched unaffected control subjects. A subset of NF1 patients (n = 70) was also assessed for clinical severity of NF1 features and neurological problems and received psychometric testing for attention deficiencies and IQ. Brain morphological measurements were compared between NF1 and control subjects, and correlation analyses were performed between principal components of the intracranial measurements and clinical and psychometric features.ResultsFour of nine corpus callosum measurements were significantly greater in adults with NF1 than in sex- and age-matched controls. All seven brainstem measurements were significantly greater in adults with NF1 than in controls. No robust correlations were observed between the size of these structures and clinical or neuropsychometric assessments.ConclusionsOur findings are consistent with the hypothesis that dysregulation of brain myelin production is an important manifestation of NF1 in adults.


2021 ◽  
Author(s):  
Su Wang ◽  
Jan M Friedman ◽  
Per Suppa ◽  
Ralph Buchert ◽  
Victor-Felix Mautner

Objective: To characterize alterations in brain volumes by three-dimensional (3D) MRI in adults with neurofibromatosis 1 (NF1). Methods: We obtained brain volume measurements using 3D magnetic resonance imaging for 351 adults with NF1 and, as a comparison group, 43 adults with neurofibromatosis 2 (NF2) or Schwannomatosis. We assessed a subset of 19 adults with NF1 for clinical severity of NF1 features and neurological problems and conducted psychometric testing for attention deficiencies and intelligence quotient. We compared brain volumes between NF1 patients and controls and correlated volumetric measurements to clinical and psychometric features in the NF1 patients. Results: Total brain volume and total and regional white matter volumes were all significantly increased in adults with NF1. Grey matter volume decreased faster with age in adults with NF1 than in controls. Greater total brain volume and white matter volume were correlated with lower attention deficits and higher intelligence quotients in adults with NF1. Interpretations: Our findings are consistent with the hypothesis that dysregulation of brain myelin production is a cardinal manifestation of NF1 and that these white matter changes may be functionally important in affected adults.


1998 ◽  
Vol 18 (10) ◽  
pp. 1157-1161 ◽  
Author(s):  
Hans Karbe ◽  
Karl Herholz ◽  
Marco Halber ◽  
Wolf-Dieter Heiss

The corpus callosum is the largest connection between the functionally asymmetric cerebral hemispheres. The objective of this study was to measure functional activity of callosal fiber tracts during speech processing. We analyzed the regional glucose metabolism of the corpus callosum and of speech-relevant cortical areas in 10 normal individuals at rest and during word repetition. We used three-dimensionally registered magnetic resonance imaging to visualize the individual brain morphology and high-resolution positron emission tomography for metabolic measurements. The task-induced metabolic changes of the callosal midbody and isthmus had a significant negative correlation with key regions of language processing in the left inferior frontal cortex (Brodmann's area 44) and in the right superior temporal cortex (Brodmann's area 22) (e.g., correlation of metabolic changes in the surface aspects of the right Brodmann's area 22 and the callosal midbody/isthmus: r = −0.91, P < 0.001). The study indicates that language processing in asymmetrically organized cortical areas inhibits the reciprocal transcallosal information exchange in favor of the lateralized mental operation. Our data agree with anatomic, electrophysiologic, and pharmacologic experiments that point to the important role of collateral inhibition for the transcallosal information exchange.


PLoS ONE ◽  
2012 ◽  
Vol 7 (10) ◽  
pp. e48079 ◽  
Author(s):  
Marco Bozzali ◽  
Chiara Mastropasqua ◽  
Mara Cercignani ◽  
Giovanni Giulietti ◽  
Sonia Bonnì ◽  
...  

2015 ◽  
Vol 46 (4) ◽  
pp. 841-854 ◽  
Author(s):  
S. Rigucci ◽  
T. R. Marques ◽  
M. Di Forti ◽  
H. Taylor ◽  
F. Dell'Acqua ◽  
...  

BackgroundThe use of cannabis with higher Δ9-tetrahydrocannabinol content has been associated with greater risk, and earlier onset, of psychosis. However, the effect of cannabis potency on brain morphology has never been explored. Here, we investigated whether cannabis potency and pattern of use are associated with changes in corpus callosum (CC) microstructural organization, in patients with first-episode psychosis (FEP) and individuals without psychosis, cannabis users and non-users.MethodThe CC of 56 FEP (37 cannabis users) and 43 individuals without psychosis (22 cannabis users) was virtually dissected and segmented using diffusion tensor imaging tractography. The diffusion index of fractional anisotropy, mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity was calculated for each segment.ResultsAcross the whole sample, users of high-potency cannabis had higher total CC MD and higher total CC AD than both low-potency users and those who never used (p = 0.005 and p = 0.004, respectively). Daily users also had higher total CC MD and higher total CC AD than both occasional users and those who never used (p = 0.001 and p < 0.001, respectively). However, there was no effect of group (patient/individuals without psychosis) or group x potency interaction for either potency or frequency of use. The within-group analysis showed in fact that the effects of potency and frequency were similar in FEP users and in users without psychosis.ConclusionsFrequent use of high-potency cannabis is associated with disturbed callosal microstructural organization in individuals with and without psychosis. Since high-potency preparations are now replacing traditional herbal drugs in many European countries, raising awareness about the risks of high-potency cannabis is crucial.


Stroke ◽  
2014 ◽  
Vol 45 (suppl_1) ◽  
Author(s):  
Travis R Ladner ◽  
Carlos Faraco ◽  
Manus J Donahue ◽  
Daniel Arteaga ◽  
Lori C Jordan ◽  
...  

Introduction: Frequent dissociation between clinical severity and angiographic grading of moyamoya supports a role for alternative tissue-level hemodynamic measures. Here, angiography is complemented with noninvasive MRI measurements of parenchymal impairment to assess changes in cerebrovascular reactivity (CVR) after extracranial-intracranial bypass in moyamoya. Hypothesis: CVR is regionally impaired pre-operatively, yet increases after surgery. This can be visualized noninvasively by assessing blood oxygenation level-dependent (BOLD) MRI changes with safe, mildly hypercarbic gas. Methods: Using a block MRI paradigm, carbogen (5% CO 2 ; 95% O 2 3 min) was interleaved with atmospheric air (<1% CO 2 ; 3 min) administration during BOLD MRI in intracranial stenosis patients (n=70), a subset of which (n=9; age=35.7+/-10.8; 7F/2M) underwent indirect (n=8) or direct (n=1) revascularization for moyamoya. Five patients had both pre-operative and post-operative hemodynamic imaging, with post-operative scans performed after 7.3+/-4.1 months. CVR, calculated as a z-statistic in response to hypercarbia vs. atmospheric air, was compared (two-tailed t-test) for each patient between the two time points to correlate CVR changes with surgery. Results: Fig. 1 shows BOLD MRI on a patient scanned before and 2 years after right-sided indirect bypass, with significant (t=79.29, p<0.01) right-sided hemodynamic improvement. Cohort analyses of patients with pre/post-operative scans revealed significant interhemispheric CVR differences prior to surgery (t=3.48, p<0.01), which resolved after bypass (t=0.88, p=0.20). Additionally, CVR increased significantly in the operative hemisphere (t=4.50, p<0.01). Conclusions: CVR-weighted hemodynamic MRI can be implemented into routine clinical protocols, corresponds well with revascularization response, and has potential as a noninvasive complement to angiography for serial monitoring of moyamoya patients.


2006 ◽  
Vol 12 (1) ◽  
pp. 24-33 ◽  
Author(s):  
JEFFREY SCHATZ ◽  
ROBERT BUZAN

We assessed midsagittal corpus callosum size in sickle cell disease (SCD) and its relationship to lesion volume, lesion location, and cognitive functioning. Twenty-eight children with SCD and 16 demographic controls completed magnetic resonance imaging (MRI) and neuropsychological testing. Corpus callosum (CC) size was smaller for children with silent infarcts (n= 8) or overt stroke (n= 8) than for those without visible infarcts (n= 12) or control participants. Lesion volume was a robust predictor of IQ and other cognitive scores; total CC size did not typically add explanatory power for these measures. The size of the rostral body of the CC, however, independently predicted measures of distractibility, speeded production, and working memory. Posterior CC size was also decreased among many of the children with SCD, even in the absence of visible infarcts in this region. Brain morphology appears to provide additional information about SCD-related effects on the brain above and beyond visible infarcts. (JINS, 2006,12, 24–33.)


1981 ◽  
Vol 55 (1) ◽  
pp. 89-98 ◽  
Author(s):  
Raymond Sawaya ◽  
Robert L. McLaurin

✓ A clinical analysis of 23 patients with Dandy-Walker malformation indicates that more than 85% of them were diagnosed at or before 1 year of age, and that the incidence of associated anomalies is approximately 50%, with a 17% incidence for agenesis of the corpus callosum. The significance of the presence of these anomalies is substantiated by the fact that of the seven deaths recorded, six were related to this disease and five were affected by associated anomalies. The high mortality rate (26%) is comparable to that of other series. The differential diagnosis with posterior fossa extra-axial cysts is discussed. Ten patients were primarily treated with excision of the cyst membrane; all of them required subsequent shunting to control the intracranial pressure, demonstrating the futility of this approach. None of the patients treated with lateral ventricle shunting suffered an upward herniation of the posterior fossa contents, suggesting that combined shunting of the lateral and fourth ventricles is rarely necessary. The technical advantages of posterior fossa shunting alone are outlined. Of the 16 survivors, 14 were assessed for their mental development by means of standard psychometric testing. The results of the intelligence quotient (IQ) scoring have indicated that 71% of the patients have subnormal mental development (IQ < 83). There was no significant relationship between retardation and associated anomalies, although agenesis of the corpus callosum was related to poor intellectual development in the two patients so affected (IQ's of 50 and 73).


2008 ◽  
Vol 38 (6) ◽  
pp. 406-410 ◽  
Author(s):  
Aviva Mimouni-Bloch ◽  
Liora Kornreich ◽  
Walid Kaadan ◽  
Tamar Steinberg ◽  
Avinoam Shuper

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