The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich’s ataxia
✍ Scribed by Des R. Richardson; Michael L-H. Huang; Megan Whitnall; Erika M. Becker; Prem Ponka; Yohan Suryo Rahmanto
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 289 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0946-2716
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## Abstract ## Background: The objective of the study was to evaluate the sensitivity to change of the Scale for the Assessment and Rating of Ataxia (score, 0–40) in Friedreich's ataxia. ## Methods: This was a follow‐up study in adult patients with genetically confirmed Friedreich's ataxia evalu
Much evidence, derived from biochemical studies of both blood and autopsied brain, has suggested that phospholipid metabolism is abnormal in patients with Friedreich's ataxia (FA), a disorder characterized by severe neuronal loss in the spinal cord and lower brain stem with no, or only modest, damag