Regional Cerebral Disease Progression in Friedreich's Ataxia: A Longitudinal Diffusion Tensor Imaging Study.

Background And Purpose: Imaging biomarkers of disease progression are desirable in inherited ataxias. MRI has demonstrated brain damage in Friedreich ataxia (FRDA) in form of regional atrophy of the medulla, peridentate cerebellar white matter (WM) and superior cerebellar peduncles (visible in T1-weighted images) and of change of microstructural characteristics of WM tracts of the brainstem, cerebellar peduncles, cerebellum, and supratentorial structures (visible through diffusion-weighted imaging). We explored the potential of brain MR morphometry and diffusion tensor imaging (DTI) to track the progression of neurodegeneration in FRDA.

Cerebellar hyperperfusion in semantic dementia.

Despite evidence of a cerebellar contribution to language, possible functional changes of the cerebellum in patients with language impairment secondary to cerebral neurodegeneration has not been investigated so far. We examined with resting perfusion single photon emission tomography one patient with semantic dementia and the data were compared with a normal subject database. Region of interest and Statistical Parametric Mapping 2 analysis showed in the patient hypoperfusion of the left temporal and parietal lobe and hyperperfusion in the superior vermis and cerebellar hemispheres (lobules IV, V, and VI).

Neurodegeneration in friedreich's ataxia is associated with a mixed activation pattern of the brain. A fMRI study.

Friedreich's ataxia (FRDA) is associated with a distributed pattern of neurodegeneration in the spinal cord and the brain secondary to selective neuronal loss. We used functional MR Imaging (fMRI) to explore brain activation in FRDA patients during two motor-sensory tasks of different complexity, i.e.

Axial diffusivity is increased in the degenerating superior cerebellar peduncles of Friedreich's ataxia.

Introduction: Decreased fractional anisotropy (FA) demonstrated by diffusion tensor MR imaging (DTI) in areas of white matter (WM) damage is generally associated with increase of radial diffusivity, while axial diffusivity is reported to be decreased, unchanged, or increased. Aiming to better define the type of axial diffusivity change occurring in a typical human neurodegenerative disease, we investigated axial and radial diffusivity in Friedreich's ataxia (FRDA) which is characterized by selective neuronal loss of the dentate nuclei and atrophy and decreased FA of the superior cerebellar peduncles (SCPs).

Methods: Axial and radial diffusivity of the whole-brain WM were evaluated in 14 patients with FRDA and 14 healthy volunteers using DTI at 1.

Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia.

Purpose: To investigate in vivo severity and topographic distribution of brain white matter (WM) fiber bundle atrophy in patients with Friedreich ataxia, a condition characterized by an uneven involvement of brain WM, and to correlate such findings with the clinical status of the patients.

Materials And Methods: The study was conducted with institutional review board approval. Written informed consent was obtained from each participant.

Peduncular hallucinosis: a polysomnographic and spect study of a patient and efficacy of serotonergic therapy.

Peduncular hallucinosis (PH) consists of formed and coloured visual images, which the patient knows are unreal; it is often associated with lesions of the pons, midbrain and diencephalon. A 72-year-old man had noted the sudden onset of visual hallucinations one year before, specifying the time and body position in a 4-week, 24-h diary. Thereafter, he underwent video-polysomnography (VPSG), brain magnetic resonance imaging (MRI), angiography (MRA), proton spectroscopy ((1)H MRS), and single photon emission tomography (SPECT).

Impact of cerebrospinal fluid contamination on brain metabolites evaluation with 1H-MR spectroscopy: a single voxel study of the cerebellar vermis in patients with degenerative ataxias.

Purpose: To investigate the impact of cerebrospinal fluid (CSF) contamination on metabolite evaluation in the superior cerebellar vermis with single-voxel (1)H-MRS in normal subjects and patients with degenerative ataxias.

Materials And Methods: Twenty-nine healthy volunteers and 38 patients with degenerative ataxias and cerebellar atrophy were examined on a 1.5 Tesla scanner.

Brain white matter damage in SCA1 and SCA2. An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statistics.

Background And Purpose: Neurodegeneration in spinocerebellar ataxia type 1(SCA1) and 2(SCA2) is associated with white matter(WM) damage. Voxel-Based Morphometry(VBM), histogram analysis of mean diffusivity(MD) and Tract-Based Spatial Statistics(TBSS) enable an in vivo quantitative analysis of WM volume and structure. We assessed with these 3 techniques the whole brain WM damage in SCA1 and SCA2.

Brain structural damage in spinocerebellar ataxia type 1 : a VBM study.

Background And Objective: Neuropathological description of the brain in spinocerebellar ataxia type 1(SCA1) is limited to a few cases. Voxel-based morphometry (VBM) enables an unbiased in vivo whole-brain quantitative analysis of regional differences in gray matter (GM) and white matter (WM) volume. We assessed with VBM the structural damage in patients with genetically confirmed SCA1.

Brain structural damage in spinocerebellar ataxia type 2. A voxel-based morphometry study.

Voxel-based morphometry (VBM) enables an unbiased in-vivo whole-brain quantitative analysis of differences in gray matter (GM), white matter (WM) and cerebro-spinal fluid (CSF) volumes. We assessed with VBM 20 spinocerebellar ataxia Type 2 (SCA2) patients with mild or moderate cerebellar deficit and 20 age and sex-matched healthy controls. SCA2 patients showed a significant (P < 0.

Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry.

Background And Purpose: Neuropathological examination in Friedreich ataxia (FRDA) reveals neuronal loss in the gray matter (GM) nuclei and degeneration of the white matter (WM) tracts in the spinal cord, brainstem and cerebellum, while the cerebral hemispheres are substantially spared. Tract-based spatial statistics (TBSS) enables an unbiased whole-brain quantitative analysis of the fractional anisotropy (FA) and mean diffusivity (MD) of the brain WM tracts in vivo.

Patients And Methods: We assessed with TBSS 14 patients with genetically confirmed FRDA and 14 age- and sex-matched healthy controls who were also examined with voxel-based morphometry (VBM) to assess regional atrophy of the GM and WM.

Combining functional and structural brain magnetic resonance imaging in Huntington disease.

Objective: To concurrently investigate with magnetic resonance (MR) the brain activation and regional brain atrophy in patients with Huntington disease (HD).

Methods: Nine symptomatic HD patients and 11 healthy subjects underwent an MR study including functional MR acquisition during finger tapping of the right hand and high-resolution T1-weighted images. Functional and structural data were analyzed using Statistical Parametric Mapping 2 software.

Self-paced frequency of a simple motor task and brain activation. An fMRI study in healthy subjects using an on-line monitor device.

Application of fMRI to clinical neurology implies the selection of a simple task and control of the task performance. The capability to objectively monitor variables related to task execution is, therefore, important and could improve accuracy of clinical fMRI studies. We assessed the influence of different self-paced frequencies of a simple motor task on brain activation in healthy subjects.

Pontine hyperperfusion in sporadic hyperekplexia.

Objective: To explore with neuroimaging techniques the anatomical and functional correlates of sporadic hyperekplexia.

Methods: Two elderly women with sporadic hyperekplexia underwent neurophysiological assessment, MRI of the brain and proton magnetic resonance spectroscopy (1H-MRS) of the brainstem and frontal lobes. Regional cerebral blood flow was investigated with single photon emission tomography (SPECT) during evoked startles and at rest.

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.

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.

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.

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).

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.