Functional MRI Studies in Friedreich's Ataxia: A Systematic Review
网页2022年3月10日 · Friedreich's ataxia (FRDA) is an inherited neurodegenerative movement disorder with early onset, widespread cerebral and cerebellar pathology, and no cure still available. Functional MRI (fMRI) studies, although currently limited in number, have provided a better understanding of brain changes in people with FRDA.
Revisiting Friedreich's Ataxia: Phenotypic and Imaging …
网页2024年4月12日 · Friedreich's ataxia (FRDA) is a common cause of autosomal recessive cerebellar ataxia. The phenotype is dependent on the repeat size and duration of the disease. We aimed to study the clinical, electrophysiologic, and radiologic profiles in a large Indian cohort of genetically proven FRDA patients.
Brain MRI detects early-stage alterations and disease progression …
网页2023年7月6日 · Using a multimodal neuroimaging protocol, combined with advanced analysis methods, we sought to identify macrostructural and microstructural alterations in the brain of patients with early-stage Friedreich ataxia to better understand its distribution patterns and progression.
Conventional MRI findings in hereditary degenerative ataxias: …
网页2021年3月17日 · Friedreich’s ataxia. Friedreich’s ataxia (FRDA) is the most common autosomal recessive ataxia, with an estimated prevalence in Europe between 1 in 750,000 (Finland) and 1 in 20,000 (Northern Spain) . It is caused by biallelic GAA trinucleotide repeat expansions in intron 1 of the FXN gene on chromosome 9q21, encoding Frataxin .
MR Imaging in Ataxias: Consensus Recommendations by the Ataxia …
网页2023年6月6日 · With many viable strategies in the therapeutic pipeline, upcoming clinical trials in hereditary and sporadic degenerative ataxias will benefit from non-invasive MRI biomarkers for patient stratification and the evaluation of therapies.
Brain MRI detects early-stage alterations and disease ... - PubMed
网页2023年7月6日 · Friedreich ataxia is a progressive neurodegenerative disorder characterized by cerebellar and spinal atrophy. However, studies to elucidate the longitudinal progression of the pathology in the brain are somewhat inconsistent and limited, especially for early-stage Friedreich ataxia.
Diagnosis and treatment of Friedreich ataxia: a European
网页Sagittal and axial MRI scans in patients with Friedreich ataxia show thinning of the cervical spinal cord, and might also show signal abnormalities in the posterior and lateral columns. 39 ...
Brain Structure and Degeneration Staging in Friedreich Ataxia: …
网页2021年8月26日 · Friedreich ataxia (FRDA) is an inherited neurological disease defined by progressive movement incoordination. We undertook a comprehensive characterization of the spatial profile and progressive evolution of structural brain abnormalities in people with FRDA. Methods.
Brain Structure and Degeneration Staging in Friedreich Ataxia ... - PubMed
网页Objective: Friedreich ataxia (FRDA) is an inherited neurological disease defined by progressive movement incoordination. We undertook a comprehensive characterization of the spatial profile and progressive evolution of structural brain abnormalities in …
Friedreich Ataxia - National Institute of Neurological Disorders and Stroke
网页What is Friedreich ataxia? Friedreich ataxia (FA) is a rare, inherited disorder that causes progressive damage to the nervous system. This can cause movement and sensory symptoms and trouble with walking and gait. In FA, nerve fibers in the spinal cord and peripheral nerves break down, becoming thinner.