Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA.

Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA. Cerebellum. 2020 Jan 02;: Authors: Shishegar R, Harding IH, Corben LA, Delatycki MB, Storey E, Egan GF, Georgiou-Karistianis N Abstract Friedreich ataxia (FRDA) has been associated with functional abnormalities in cerebral and cerebellar networks, particularly in the ventral attention network. However, how functional alterations change with disease progression remains largely unknown. Longitudinal changes in brain activation, associated with working memory performance (N-back task), and grey matter volume were assessed over 24 months in 21 individuals with FRDA and 28 healthy controls using functional and structural magnetic resonance imaging, respectively. Participants also completed a neurocognitive battery assessing working memory (digit span), executive function (Stroop, Haylings), and set-shifting (Trail Making Test). Individuals with FRDA displayed significantly increased brain activation over 24 months in ventral attention brain regions, including bilateral insula and inferior frontal gyrus (pars triangularis and pars opercularis), compared with controls, but there was no difference in working memory (N-back) performance between groups. Moreover, there were no significant differences in grey matter volume changes between groups. Significant correlations between brain activations and both clinical seve...
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research

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AbstractFriedreich ataxia (FRDA) has been associated with functional abnormalities in cerebral and cerebellar networks, particularly in the ventral attention network. However, how functional alterations change with disease progression remains largely unknown. Longitudinal changes in brain activation, associated with working memory performance (N-back task), and grey matter volume were assessed over 24  months in 21 individuals with FRDA and 28 healthy controls using functional and structural magnetic resonance imaging, respectively. Participants also completed a neurocognitive battery assessing working memory (digit s...
Source: The Cerebellum - Category: Neurology Source Type: research
Conclusions: Increased hs-TNT and NT-proBNP levels are suggestive of CA diagnosis among patients with infiltrative cardiomyopathy and preserved LV ejection fraction. PMID: 30233871 [PubMed]
Source: Journal of Thoracic Disease - Category: Respiratory Medicine Tags: J Thorac Dis Source Type: research
Friedreich ataxia (FRDA) is the most common autosomal recessive inherited ataxia, mainly caused by a GAA trinucleotide repeat expansion in the FRDA gene encoding the protein frataxin (Bradley et al., 2000). Magnetic resonance imaging (MRI) has successfully been used to detect abnormalities in the brainstem, cerebellum and cortex in FRDA (Franca et al., 2009; Dogan et al., 2016). Here, we used in vivo sodium MRI to investigate cerebral metabolic changes in FRDA (Reetz et al., 2012).
Source: Clinical Neurophysiology - Category: Neuroscience Authors: Source Type: research
Authors: Kolnagou A, Kontoghiorghe CN, Kontoghiorghes GJ Abstract Millions of people worldwide suffer from iron overload toxicity diseases such as transfusional iron overload in thalassaemia and hereditary haemochromatosis. The accumulation and presence of toxic focal iron deposits causing tissue damage can also be identified in Friedreich's ataxia, Alzheimer's, Parkinson's, renal and other diseases. Different diagnostic criteria of toxicity and therapeutic interventions apply to each disease of excess or misplaced iron. Magnetic resonance imaging relaxation times T2 and T2* for monitoring iron deposits in organs a...
Source: Frontiers in Bioscience - Scholar - Category: Biomedical Science Tags: Front Biosci (Schol Ed) Source Type: research
Abstract IntroductionFriedreich's ataxia (FRDA) is the most common autosomal‐recessive ataxia worldwide. It is characterized by early onset, sensory abnormalities, and slowly progressive ataxia. However, some individuals manifest the disease after the age of 25 years and are classified as late‐onset FRDA (LOFA). Therefore, we propose a transversal multimodal MRI‐based study to investigate which anatomical substrates are involved in classical (cFRDA) and LOFA. MethodsWe enrolled 36 patients (13 with LOFA) and 29 healthy controls. All subjects underwent magnetic resonance imaging in a 3 T device; three‐dimension...
Source: Human Brain Mapping - Category: Neurology Authors: Tags: Research Article Source Type: research
Discussion: Compensatory activity is evident in the cerebral cortex in individuals with Friedreich ataxia. Early compensation followed by later decline in premotor/ventral attention systems demonstrates capacity‐limited neural reserve, while the additional engagement of higher order brain networks is indicative of compensatory task strategies. Network‐level changes in cerebral brain function thus potentially serve to mitigate the impact of motor impairments in Friedreich ataxia. © 2017 International Parkinson and Movement Disorder Society
Source: Movement Disorders - Category: Neurology Authors: Tags: Research Article Source Type: research
We examined a cohort of patients suffering from cerebellar atrophy resulting in ataxia, with two main objectives: first to investigate which regions of the cerebrum were affected by the cerebellar degeneration, and second to assess whether diffusion magnetic resonance imaging (dMRI) metrics within the medial (MCP) and superior cerebellar peduncle (SCP) - namely fractional anisotropy (FA) and radial diffusivity (RD) - could be used as a biomarker in patients with this condition. Structural and dMRI data of seven patients with cerebellar atrophy (2 with spinocerebellar atrophy type 2, 1 with Friedreich's ataxia, 4 with idiop...
Source: Functional Neurology - Category: Neurology Tags: Funct Neurol Source Type: research
CONCLUSIONS: Low-quality evidence from two small, published, randomised controlled trials neither support nor refute an effect from antioxidants (idebenone, or a combination of coenzyme Q10 and vitamin E) on the neurological status of people with Friedreich ataxia, measured with a validated neurological rating scale. A large unpublished study of idebenone that reportedly failed to meet neurological or key cardiological endpoints, and a trial of pioglitazone remain unpublished, but on publication will very likely influence quality assessments and conclusions. A single study of idebenone provided low-quality evidence for a d...
Source: Cochrane Database of Systematic Reviews - Category: Journals (General) Authors: Tags: Cochrane Database Syst Rev Source Type: research
This study assessed the structural integrity of cortical grey matter in FRDA, focussing on regions in which pathology may underlie the  motor deficits characteristic of this disorder. T1-weighted anatomical magnetic resonance imaging scans were acquired from 31 individuals with FRDA and 37 healthy controls. Cortical thickness (FreeSurfer) and cortical volume (SPM-VBM) were measured in cerebral motor regions-of-interest (primary mo tor, dorsal and ventral premotor, and supplementary motor areas) alongside unconstrained exploratory analyses of the cerebral and cerebellar cortices. Correlations were assessed be...
Source: Journal of Neurology - Category: Neurology Source Type: research
Authors: Tranchant C, Anheim M Abstract Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, i...
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research
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