PubMed Health⌕ Search

Biomedical subjects

Mario Mascalchi

Publications and source records attributed to Mario Mascalchi.

At least 19 recordsLinked to original sources

Fragile X premutation with atypical symptoms at onset.

OBJECTIVE: To evaluate the presence of carriers of the fragile X premutation among male patients with sporadic ataxia without expansion into known spinocerebellar ataxia genes. DESIGN: Clinical and genetic examinations were performed on patients with sporadic pure ataxia and patients with ataxia associated with extracerebellar features such as pyramidal and extrapyramidal signs, dementia, or peripheral neuropathy. SETTING: University department of neurology. PATIENTS: One hundred forty-two Italian men with sporadic ataxia with onset at age 30 to 84 years. INTERVENTIONS: The CGG repeat size of the FMR1 gene was evaluated with fluorescent polymerase chain reaction. Premutated allele lengths were confirmed with Southern blot analysis. RESULTS: FMR1 premutation alleles with a repeat number greater than 55 were detected in 3 probands (2.1%) from a total of 142 male subjects initially referred to our university medical center for evaluation of sporadic ataxia. Two patients had typical fragile X syndrome with associated tremor or ataxia, and the third patient had spastic paraparesis without clear symptoms of cerebellar ataxia and without the common signs seen at magnetic resonance imaging. CONCLUSIONS: Genetic analysis of the FMR1 gene could provide a reliable diagnostic tool for the definitive diagnosis of late-onset ataxias. Additional studies are needed to clarify the importance of premutation screening in patients with movement disorders or other associated atypical features at onset, such as paraparesis.

Adult↗

Operator-dependent reproducibility of size measurements of small phantoms and lung nodules examined with low-dose thin-section computed tomography.

OBJECTIVE: We sought to assess the reproducibility of size measurements of small lung nodules examined with low-dose thin-section computed tomography (LDTSCT). MATERIALS AND METHODS: Three radiologists measured volume with a semiautomatic tool and diameters manually of 20 (equivalent diameter range, 5.3-11 mm) phantom nodules and 37 (mean diameter range, 5-8.5 mm) lung nodules in subjects undergoing LDTSCT. RESULTS: In phantoms, the worst 95% limits of agreement (95% LA) for volume were -3.0% and 3.0% within operator and -3.1% and 2.8% between operators. The coefficient of repeatability (CR) for diameter ranged between 0.51 and 0.67 mm within operator and the 95% LA were from -0.71 to 0.71 mm between operators. In nodules, the worst intraoperator 95% LA for volume were -14.4% and 17.6% within operator and -13.1% and 14.2% between operators. The CR for diameter ranged between 0.48 and 0.73 mm within operator and the 95% LA were from -1.16 to 1.16 mm between operators. CONCLUSION: Operator-dependent variability of size measurements of small nodules examined with LDTSCT is not negligible and should be considered in lung cancer-screening studies.

Humans↗

Subcortical damage and cortical functional changes in men and women with Fabry disease: a multifaceted MR study.

PURPOSE: To prospectively compare brain magnetic resonance (MR) imaging and hydrogen 1 (1H) MR spectroscopy findings and to use functional MR imaging to explore the patterns of brain activation in men and women with Fabry disease (FD). MATERIALS AND METHODS: Eight men and eight women with FD (mean age, 38.8 years +/- 13.9 [standard deviation]) with absent or mild neurologic deficit and 16 healthy control subjects (eight men and eight women; mean age, 42.7 years +/- 15.3) gave informed consent to participate in the study, which was approved by the local ethical committee. Patients and control subjects underwent MR imaging, 1H MR spectroscopy of the frontal cortex and subcortical white matter, and functional MR imaging during repetitive flexion-extension of the last four fingers of the right hand. Extent of cerebral white matter damage was rated on fluid-attenuated inversion recovery MR images by using a visual score. Areas of activation were identified by using statistical parametric mapping software and the adoption of a height threshold of P < .001 (uncorrected) and an extent threshold of P < .05 (corrected). RESULTS: Men and women with FD showed a similar distribution of cerebral white matter changes, lacunar and cortical infarcts, small hemorrhages, and vertebrobasilar dolichoectasia. No significant (P > .05) difference was observed between patients with FD and control subjects for concentration of N-acetylaspartate, creatine, and choline. During the motor task, patients showed recruitment of additional cortical areas in comparison with control subjects. Increased activation of the contralateral sensorimotor area correlated (P = .002) with extent of white matter damage. CONCLUSION: Subcortical ischemic changes in men and women with FD are similar and are associated with increased recruitment of the sensorimotor network during a simple motor task, which might limit the functional effect of the white matter small-vessel disease.

Adult↗

Spirometrically gated high-resolution CT findings in COPD: lung attenuation vs lung function and dyspnea severity.

STUDY OBJECTIVES: The aim of this study was to investigate the relationship between high-resolution CT (HRCT) lung attenuation measurements, acquired under spirometric control of inspiratory and expiratory lung volume, and pulmonary dysfunction as well as dyspnea severity in patients with COPD. PATIENTS AND DESIGN: In 51 patients with COPD, we compared by linear regression, univariate and multivariate logistic regression airflow limitation (FEV(1)/vital capacity [VC]), hyperinflation (percentage of predicted residual volume [RV%]), parenchymal loss (percentage of predicted diffusing capacity of the lung for carbon monoxide [Dlco%]), and Medical Research Council (MRC) dyspnea scale with relative area with attenuation values < - 950 HU at 90% of VC [RAI(950)] and < - 910 HU at 10% of VC, respectively, and with mean lung attenuation measured at the same levels of VC (mean CT lung density at 10% of VC, and mean CT lung density at 90% of VC [MeanCTEXP]). RESULTS: All HRCT attenuation measurements were significantly related with functional abnormalities and dyspnea severity. In multivariate logistic models, with 1 indicating worse changes in dichotomous outcome variables, MeanCTEXP independently predicted FEV(1)/VC (odds ratio [OR], 0.24; 95% confidence interval [CI], 0.11 to 0.56), RV% (OR, 0.57; 95% CI, 0.42 to 0.77), and MRC dyspnea scale (OR, 0.63; 95% CI, 0.48 to 0.82), while RAI(950) independently predicted Dlco% (OR, 1.90; 95% CI, 1.37 to 2.65). CONCLUSIONS: Spirometrically gated measurements of HRCT lung attenuation reflect differently functional changes and dyspnea perception in COPD. Inspiratory measurements assess the extent of emphysematous tissue loss, and expiratory measurements may reflect airflow limitation and lung hyperinflation with attendant dyspnea perception. Pulmonary dysfunction in COPD cannot be assessed by a single modality of lung attenuation measurement.

Adult↗

Risk-benefit analysis of X-ray exposure associated with lung cancer screening in the Italung-CT trial.

OBJECTIVE: Prior analyses of X-ray exposures in lung cancer screening with CT considered the basic acquisition technique in single-detector scanners and the effects of a lifetime screening regimen, whereas the potential benefit in terms of lives saved was not addressed. MATERIALS AND METHODS: We determined the total-body effective dose of different acquisition techniques for one single-detector and one MDCT scanner and made projections about the cumulative radiation exposure to smokers undergoing four annual CT examinations on the same scanners in the Italung-CT Trial. Combining these data with estimates of radiation-induced fatal cancer and of the benefit of screening, we calculated the risk-benefit ratio for participants in the trial, ex-smokers, and never-smokers. RESULTS: The cumulative effective doses per 1,000 subjects were 3.3 Sv using an MDCT scanner and 5.8 or 7.1 Sv using a single-detector scanner. Potential fatal cancers associated with radiation exposure were 0.11 per 1,000 subjects for MDCT scanners and 0.20 or 0.24 for single-detector scanners, which is about 10-100 times lower than the number of expected lives saved by screening assuming a 20-30% lung cancer-specific mortality reduction in current smokers. They were, however, of similar magnitude to the lives saved by screening in never-smokers and former smokers assuming a 10% efficacy of screening. CONCLUSION: MDCT is associated with lower radiation doses than single-detector CT technology. The risk of radiation dose in the Italung-CT Trial is compensated for by the expected benefit. CT screening for lung cancer should not be offered to never-smokers, whereas its recommendation in former smokers is debatable.

Aged↗

Chronic obstructive pulmonary disease: thin-section CT measurement of airway wall thickness and lung attenuation.

PURPOSE: To prospectively evaluate airway wall thickness and lung attenuation at spirometrically gated thin-section computed tomography (CT) in patients with chronic obstructive pulmonary disease (COPD) and to correlate gated CT findings with pulmonary function test (PFT) results. MATERIALS AND METHODS: The ethical committee approved the study, and all patients gave informed consent. Forty-two consecutive patients with COPD (20 with and 22 without chronic bronchitis [CB]) underwent gated thin-section CT and PFTs on the same day. The percentage wall area (PWA) and the thickness-to-diameter ratio (TDR) for all depicted bronchi that were round and larger than 2 mm in diameter, the mean lung attenuation (MLA), and the pixel index (PI) at -950 HU were determined. The reproducibility of the airway measurements was preliminarily tested by performing a five-trial examination in a patient with COPD and in a control patient. Differences in airway and lung attenuation measurements between the patients with and those without CB were evaluated at Mann-Whitney U testing. Simple and multiple regression analyses were used to assess the correlation between thin-section CT and PFT measurements. RESULTS: The mean intraoperator coefficient of variation for airway measurements was 7.8% (range, 3.8%-13.4%). An average of nine bronchi per patient were assessed. Patients with CB had significantly higher PWAs, TDRs, and MLAs and significantly lower PIs than patients without CB (P < .05 for all values). The combination of PWA, TDR, and PWA normalized to body weight correlated significantly (P < .05) with the forced expiratory volume in 1 second-to-slow vital capacity ratio and the diffusing capacity of the lung for carbon monoxide in patients with but not in patients without CB. PFT results correlated better with MLA and PI in patients without CB. CONCLUSION: Bronchial wall measurements differ between patients who have COPD with CB and those who have COPD without CB. The correlation between airway dimensions and indexes of airway obstruction in patients with COPD and CB indicates that the bronchial tree is the site of anatomic-functional alterations in this patient group.

Adult↗

Diffusion-weighted MR of the brain: methodology and clinical application.

Clinical diffusion magnetic resonance (MR) imaging in humans started in the last decade with the demonstration of the capabilities of this technique of depicting the anatomy of the white matter fibre tracts in the brain. Two main approaches in terms of reconstruction and evaluation of the images obtained with application of diffusion sensitising gradients to an echo planar imaging sequence are possible. The first approach consists of reconstruction of images in which the effect of white matter anisotropy is averaged -- known as the isotropic or diffusion weighted images, which are usually evaluated subjectively for possible areas of increased or decreased signal, reflecting restricted and facilitated diffusion, respectively. The second approach implies reconstruction of image maps of the apparent diffusion coefficient (ADC), in which the T2 weighting of the echo planar diffusion sequence is cancelled out, and their objective, i.e. numerical, evaluation with regions of interest or histogram analysis. This second approach enables a quantitative and reproducible assessment of the diffusion changes not only in areas exhibiting signal abnormality in conventional MR images but also in areas of normal signal. A further level of image post-processing requires the acquisition of images after application of sensitising gradients along at least 6 different spatial orientations and consists of computation of the diffusion tensor and reconstruction of maps of the mean diffusivity (D) and of the white matter anisotropic properties, usually in terms of fractional anisotropy (FA). Diffusion-weighted imaging is complementary to conventional MR imaging in the evaluation of the acute ischaemic stroke. The combination of diffusion and perfusion MR imaging has the potential of providing all the information necessary for the diagnosis and management of the individual patient with acute ischaemic stroke. Diffusion-weighted MR, in particular quantitative evaluation based on the diffusion tensor, has a fundamental role in the assessment of brain maturation and of white matter diseases in the fetus, in the neonate and in the child. Diffusion MR imaging enables a better characterisation of the lesions demonstrated by conventional MR imaging, for instance in the hypoxic-ischaemic encephalopathy, in infections and in the inherited metabolic diseases, and is particularly important for the longitudinal evaluation of these conditions. Diffusion-weighted MR imaging has an established role in the differential diagnosis between brain abscess and cystic tumour and between epidermoid tumour and arachnoid cyst. On the other hand, the results obtained with diffusion MR in the characterisation of type and extension of glioma do not yet allow decision making in the individual patient. Diffusion is one of the most relevant MR techniques to have contributed to a better understanding of the pathophysiological mechanisms of multiple sclerosis (MS). In fact, it improves the specificity of MR in characterising the different pathological substrata underlying the rather uniform lesion appearance on the conventional images and enables detection of damage in the normal-appearing white and grey matter. In MS patients the ADC or D values in the normal-appearing white matter are increased as compared to control values, albeit to a lesser degree than in the lesions demonstrated by T2-weighted images. In addition, the D of the normal appearing grey matter is increased in MS patients and this change correlates with the cognitive deficit of these patients. Histogram analysis in MS patients shows that the peak of the brain D is decreased and right-shifted, reflecting an increase of its value, and the two features correlate with the patient's clinical disability. Ageing is associated to a mild but significant increase of the brain ADC or D which is predominantly due to changes in the white matter. Region of interest and histogram studies have demonstrated that D or ADC are increased in either the areas of leukoaraiosis or the normal-appearing white matter in patients with inherited cerebral autosomal dominant arteriopathy with subcortical infarcts and stroke or sporadic ischaemic leukoencephalopathy. Diffusion changes might be a more sensitive marker for progression of the disease than conventional imaging findings. In neurodegenerative diseases of the central nervous system such as Alzheimer's disease, Huntington's disease, hereditary ataxias and motor neuron disease, quantitative diffusion MR demonstrates the cortical and subcortical grey matter damage, which is reflected in a regional increase of D or ADC, but also reveals the concomitant white matter changes that are associated with an increase in D or ADC and decrease in FA. In all these diseases the diffusion changes are correlated to the clinical deficit and are potentially useful for early diagnosis and longitudinal evaluation, especially in the context of pharmacological trials.

Brain Diseases↗

Huntington disease: volumetric, diffusion-weighted, and magnetization transfer MR imaging of brain.

PURPOSE: To investigate whether diffusion-weighted and magnetization transfer (MT) magnetic resonance (MR) imaging depict regional and/or global brain abnormalities in patients with Huntington disease (HD). MATERIALS AND METHODS: Twenty-one carriers of the HD mutation (mean age, 58 years +/- 11 [SD]) and 21 healthy control subjects (mean age, 54 years +/- 13) underwent conventional, diffusion-weighted, and MT MR imaging. Volumes, mean apparent diffusion coefficients (ADCs), and MT ratios (MTRs) for left and right caudate nucleus, putamen, and cerebral periventricular white matter-as well as an index of normalized brain volume and whole-brain ADC and MT histograms-were computed. Asymmetry in volume, ADC, and MTR measurements in caudate nucleus, putamen, and periventricular white matter in control subjects and HD carriers were evaluated with Wilcoxon testing for paired samples. Differences in MR imaging variables between HD carriers and control subjects were evaluated with Mann-Whitney U testing; correlations between stages of clinical severity and MR imaging data were investigated with Spearman rank correlation testing. RESULTS: No significant asymmetry was observed for any of the MR imaging variables. Caudate nucleus, putamen, and whole-brain volumes were smaller (P <.001 for all) in HD carriers than in control subjects. HD carriers also had increased ADC in the caudate nucleus (P =.002), putamen (P <. 001), cerebral periventricular white matter (P <.001), and whole brain (P <.001). MTR was not significantly different between HD carriers and control subjects. Correlation was observed between stages of increasing clinical disease severity and both decrease in volume of caudate nucleus (Spearman rho = -0.63), putamen (rho = -0.64), and whole brain (rho = -0.46) and increase in ADC in caudate nucleus (rho = 0.52), periventricular white matter (rho = 0.45), and whole brain (rho = 0.44). CONCLUSION: Regional and global volume loss in HD is accompanied by an increase in ADC; this correlates with disease severity.

Adult↗

ADC mapping of neurodegeneration in the brainstem and cerebellum of patients with progressive ataxias.

Analysis of the apparent diffusion coefficient (ADC) maps derived from diffusion-weighted MR imaging is emerging as a reproducible, sensitive, and quantitative tool to evaluate brain damage in diseases of the white and gray matter. To explore the potentials of ADC maps analysis in degenerative ataxias, we examined 28 patients and 26 age-matched controls with T1, T2, and diffusion (b values 0-1000 along the three main body axes)-weighted MR images. Twenty-four patients had inherited genetically proven diseases including spinocerebellar ataxia type 1 (SCA1) (n = 9), spinocerebellar ataxia type 2 (SCA2) (n = 8), and Friedreich's ataxia (FA) (n = 7), whereas four patients had sporadic adult onset pure cerebellar ataxia (three idiopathic, one gluten intolerance). Area and linear measurements of the CNS structures contained in the posterior cranial fossa (PCF) preliminary enabled classification of the patients in the three morphological categories reflecting the gross pathology findings, namely olivopontocerebellar atrophy (OPCA) (n = 10: six SCA2 and four SCA1), spinal atrophy (SA) (n = 7: all FA), and cortical cerebellar atrophy (CCA) (n = 4: three idiopathic and one gluten intolerance). Seven patients with SCA1 (n = 5) or SCA2 (n = 2) had morphologic changes reminiscent of OPCA, but their values were still in the lower normal range and were classified as undefined. Mean diffusivity (D) maps of the entire brain were generated and D was measured with regions of interest (ROI) in the medulla, pons, middle cerebellar peduncles, and the peridentate white matter. Moreover, after exclusion of the skull with manual segmentation and of the CSF with application of a threshold value, histograms were obtained for D of the brainstem and cerebellum and for D of the cerebral hemispheres. As compared to controls, a (P < 0.001) increase of D was observed in the medulla, middle cerebellar peduncles, and peridentate white matter in OPCA and undefined patients groups who had also significantly increased values of the 25th and 50th percentiles in the brainstem and cerebellum D histogram. In CCA (P = 0.01), an increase of the 25th and 50th percentile of the D value was observed in the brainstem and cerebellum histograms. The SA group showed (P < 0.001) an increased D in the medulla only. A correlation between clinical severity as assessed with the Inherited Ataxias Clinical Rating Scale (IACRS) and the 50th percentile of the D value in the brainstem and cerebellum histogram (r = 0.69) was observed in patients with SCA1 or SCA2. Diffusion MR imaging reveals variable patterns of increase of D in the brainstem, cerebellum, and cerebral hemispheres in degenerative ataxias that match the known distribution of the neuropathological changes.

Adult↗

A functional magnetic resonance imaging study of patients with secondary progressive multiple sclerosis.

Although several functional magnetic resonance imaging (fMRI) studies have shown adaptive cortical changes in patients with early multiple sclerosis (MS), the presence of brain plasticity and its role in limiting the functional consequences of brain tissue damage in patients with secondary progressive (SP) MS have not been fully investigated yet. In this study, we assessed the movement-associated brain pattern of cortical activations in patients with SPMS and investigated whether the extent of cortical brain activations is correlated with the extent of brain structural changes. From 13 right-handed SPMS patients and 15 sex- and age-matched healthy volunteers, we obtained: (a) brain dual-echo scans; (b) brain mean diffusivity and fractional anisotropy maps of the normal-appearing white (NAWM) and gray matter (NAGM); (c) fMRI during the performance of simple motor tasks [flexion-extension of the last four fingers of the right hand (task 1) and flexion-extension of the right foot (task 2)]. Compared to healthy volunteers, during task 1 performance, SPMS patients showed more significant activations of the ipsilateral inferior frontal gyrus, middle frontal gyrus, bilaterally, and contralateral intraparietal sulcus. During task 2 performance, SPMS patients had more significant activations of the contralateral primary sensorimotor cortex and thalamus and of the ipsilateral upper bank of sylvian fessure. For both tasks, strong correlations (r values ranging from -0.83 to 0.88) were found between relative activations of cortical areas of the motor network and the severity of structural changes of the NAWM and NAGM. This study demonstrates that cortical plasticity does occur in patients with SPMS and that it might have a role in limiting the clinical impact of MS-related damage. It also suggests that, in these patients, functional abilities are sustained by increased recruitment of highly specialized cortical areas.

Adult↗

Primary diffuse meningeal melanomatosis: radiologic-pathologic correlation.

We report a case of primary diffuse meningeal melanomatosis, a rare variant of primary malignant melanoma of the CNS, in a 68-year-old woman. The disease mimicked intracranial hypotension syndrome and was diagnosed only at autopsy (CSF cytologic results were negative). CT revealed hydrocephalus with effacement of the cerebral convexity sulci and abnormal contrast enhancement in the right sylvian and frontoparietal fissures, whereas MR imaging showed diffuse marked dural and leptomeningeal contrast enhancement. In retrospect, these nonspecific findings correlated with the extensive leptomeningeal invasion in the cerebral hemispheres, brain stem and spinal cord. The clinical, radiologic, and pathologic features of diffuse meningeal melanomatosis are reviewed.

Aged↗

Whole brain apparent diffusion coefficient histogram: a new tool for evaluation of leukoaraiosis.

PURPOSE: To test whole brain apparent diffusion coefficient histogram analysis as an alternative approach to visual score for the assessment of leukoaraiosis (LA). MATERIALS AND METHODS: T2 and diffusion weighted images were obtained in 15 elderly patients. LA extension was assessed on T2 weighted images by two observers using a semiquantitative visual score. Apparent diffusion coefficient (ADC) maps of the entire brain were generated and, after exclusion of the skull with manual tracing and of the cerebrospinal fluid (CSF) by application of a threshold value, whole brain (WB)-ADC histogram was obtained. Moreover, a brain volume index (BVI) was calculated on ADC maps as (intracranial volume - CSF volume) /intracranial volume. RESULTS: The kappa inter-observer agreement for LA scoring was 0.69. Manual segmentation of the skull showed a mean inter-operator coefficient of variation below 3%. The median value of whole brain ADC histogram directly correlated with LA extension (P = 0.013). Moreover a significant inverse correlation (P = 0.002) was found between WB-ADC median value and BVI. CONCLUSION: WB-ADC histogram is a reproducible alternative tool for assessing LA extension and severity.

Aged↗

Single-voxel long TE 1H-MR spectroscopy of the normal brainstem and cerebellum.

PURPOSE: To evaluate the feasibility of single voxel 1H-MRS of the CNS structures contained in the posterior cranial fossa and to determine the distribution of the normal metabolite ratios, concentrations, and T2 relaxation times in the midbrain, pons, medulla, dentate nucleus and cerebellar vermis. MATERIALS AND METHODS: A total of 147 single voxel 1H-MR spectra with a point-resolved proton spectroscopy sequence (PRESS) sequence and echo time (TE) of 136 or 272 msec were obtained in the midbrain, pons, medulla, dentate, and vermis of 31 healthy volunteers. In seven additional patients; the concentrations and T2 relaxation times of metabolites were obtained in the same locations (except the medulla) with an external phantom calibration method and a four TE PRESS technique. RESULTS: Ten (27%) of 36 spectra acquired in the medulla were of poor quality. A similar ranking of the N-acetyl aspartate (NAA)/creatine (Cr) ratio and choline(Cho)/Cr ratios in the five locations for the two TEs was observed, with the highest values in the pons (mean NAA/Cr = 4.16 +/- 0.6 and Cho/Cr =2.66 +/- 0.6 at TE 272) and the lowest values in the dentate and vermis (mean NAA/Cr = 1.66 +/- 0.2 and Cho/Cr = 1.20 +/- 0.2 at TE 272). The analysis of variance showed significant regional differences of the NAA and Cr concentrations, which had the highest values in the dentate. Non-significant regional differences were observed for the concentration of Cho and for the T2 of the metabolites. CONCLUSION: With the exception of the medulla, single voxel 1H-MRS enables an in vivo biochemical analysis of the CNS structures contained in the posterior cranial fossa. Regional differences in the metabolite ratios and concentrations must be considered when employing 1H-MRS for evaluation of diseases of the brainstem and cerebellum.

Adult↗

Proton MR spectroscopy of cerebellitis.

Single voxel proton MR spectroscopy ((1)H-MRS) of the vermis was obtained in two patients with cerebellitis. In the acute phase (1)H-MRS revealed low N-acetyl-aspartate (NAA)/creatine (Cr) and NAA/choline (Cho) and normal Cho/Cr ratios. Decrease of the concentration of NAA was confirmed by quantitative analysis in one patient. The NAA/Cr and NAA/Cho ratios and NAA concentration were increased in (1)H-MRS examinations obtained 10 and 24 months after the acute episode. (1)H-MRS demonstrates reversible metabolite changes in cerebellitis.

Acute-Phase Reaction↗

Failure of radiation therapy for brain involvement in Erdheim Chester disease.

A patient with suprasellar and brain stem involvement in Erdheim Chester disease (ECD) underwent magnetic resonance (MR) imaging and proton MR spectroscopy (1H MRS) of the ventral pons before and 1, 4 and 18 months after external whole-brain (24 Gy) radiotherapy. By revealing a decrease of the N-acetyl-aspartate/choline ratio in the pons, 1H MR spectroscopy anticipated lesions growth on MR imaging. In line with the results in four patients reported in the literature, our observation indicates that external radiation therapy is not effective for intracranial involvement in ECD.

Brain↗

Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia.

PURPOSE: To investigate whether proton magnetic resonance (MR) spectroscopy is a useful complement to MR imaging in patients with degenerative ataxia. MATERIALS AND METHODS: Brain MR imaging and single-voxel proton MR spectroscopy of the right cerebellar hemisphere and pons were performed in 30 patients with sporadic (n = 16) or inherited (n = 14) degenerative ataxia and in 20 healthy control subjects. Several indexes of brainstem and cerebellar atrophy were measured on MR images, as well as the N-acetylaspartate/creatine (NAA/Cr), choline/Cr (Cho/Cr), and myo-inositol/Cr (mI/Cr) ratios in the MR spectra. Differences between patients and subjects were evaluated with the Kruskal-Wallis and Mann-Whitney tests, whereas correlation of clinical, MR imaging, and spectroscopic data was assessed with nonparametric Spearman rank correlation. RESULTS: Measurements of brainstem and cerebellar atrophy obtained from MR images revealed patients had olivopontocerebellar atrophy (OPCA) (n = 11), spinal atrophy (SA) (n = 8), or corticocerebellar atrophy (CCA) (n = 4). Seven patients did not fulfill the criteria for any group and were considered undefined. In patients with OPCA, the pontine and cerebellar NAA/Cr and Cho/Cr ratios were significantly decreased when compared with those of the control subjects. Pontine and cerebellar NAA/Cr ratios were also significantly reduced in patients with SA and CCA. Five patients with undefined ataxia had a substantial decrease of pontine or cerebellar NAA/Cr ratio when compared with that of the control subjects. In patients with OPCA, the pontine NAA/Cr ratio (but not the atrophy measurements) showed a correlation (P =.04) with disability. CONCLUSION: MR spectroscopy is a useful complement to MR imaging in patients with degenerative ataxia.

Adolescent↗

Magnetization transfer and diffusion tensor MR imaging of acute disseminated encephalomyelitis.

BACKGROUND AND PURPOSE: Patients with acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS) have a similar pattern of abnormalities on conventional MR images. We used magnetization transfer and diffusion tensor MR imaging to quantify normal-appearing brain tissue and cervical cord disease in patients with ADEM and to compare findings with those in healthy volunteers and patients with MS. METHODS: Brain dual-echo, T1-weighted magnetization transfer, and diffusion tensor images were obtained in eight patients with ADEM, in 10 patients with MS, and in 10 healthy volunteers. Fast short-tau inversion recovery, T1-weighted, and magnetization transfer cervical cord images were also obtained. We identified lesions on the images and quantified their volumes. We performed histogram analysis of the magnetization transfer ratio (MTR) and average mean histogram analysis of the diffusivity (D) in normal-appearing brain tissue and MTR in the cervical cord. RESULTS: Histogram analysis of normal-appearing brain tissue in patients with MS showed significantly lower MTRs and peak positions and significantly higher D averages compared with those in patients with ADEM. Patients with MS had significantly lower MTRs and D peak heights and significantly higher average D compared with those in healthy volunteers. Between patients with ADEM and control subjects, normal-appearing brain tissue MTR and D histogram metrics did not differ significantly. Cervical cord MTRs did not differ between control subjects and patients with ADEM, whereas the average MTR and histogram peak position was significantly lower in patients with MS than in the other groups. CONCLUSION: Outside the acute phase of disease and as opposed to what happens in MS, the normal-appearing brain tissue and cervical cord in patients with ADEM are spared in the pathologic process.

Adult↗