Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE‐FRDA study
نویسندگان
چکیده
منابع مشابه
Patterns of cerebral and cerebellar white matter degeneration in ALS
INTRODUCTION The identification of a core spatial pattern of white matter pathology in amyotrophic lateral sclerosis (ALS) is essential for the development of MRI-based diagnostic protocols. However, the description of disease-defining white matter changes is confounded by the genetic, neuropsychological and clinical heterogeneity of ALS. Over 50 diffusion tensor imaging (DTI) papers have been ...
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Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with progressive ataxia that affects both the peripheral and central nervous system (CNS). While later CNS neuropathology involves loss of large principal neurons and glutamatergic and GABAergic synaptic terminals in the cerebellar dentate nucleus, early pathological changes in FRDA cerebellum remain largely uncharact...
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Friedreich ataxia is due to insufficient levels of frataxin, a mitochondrial iron chaperone that shields this metal from reactive oxygen species (ROS) and renders it bioavailable as Fe II. Frataxin participates in the synthesis of iron-sulfur clusters (ISCs), cofactors of several enzymes, including mitochondrial and cytosolic aconitase, complexes I, II and III of the respiratory chain, and ferr...
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ژورنال
عنوان ژورنال: Human Brain Mapping
سال: 2020
ISSN: 1065-9471,1097-0193
DOI: 10.1002/hbm.24921