A therapeutic target and biomarker in Friedreich's ataxia

Neurology

Volumn 55, Issue 11, 2000, Pages 1600-1601

  Sherer, Todd ^a   Greenamyre, J Timothy ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

8 HYDROXYDEOXYGUANOSINE; ACONITATE HYDRATASE; BIOLOGICAL MARKER; DNA; FRATAXIN; FREE RADICAL; HYDROXYL RADICAL; IRON; MALONALDEHYDE; REACTIVE OXYGEN METABOLITE;

AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; DEGENERATIVE DISEASE; DNA DAMAGE; FRIEDREICH ATAXIA; HUMAN; IRON METABOLISM; LIPID PEROXIDATION; OXIDATIVE STRESS; PRIORITY JOURNAL; REVIEW;

EID: 0034642171     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.55.11.1600     Document Type: Review

References (13)

1. Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
2. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
3. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
4. Frataxin gene of Friedreich's ataxia is targeted to mitochondria
5. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
6. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
7. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
8. Oxidative stress in patients with Friedreich ataxia
9. Increased levels of plasma malondialdehyde in Friedreich ataxia
10. Coenzyme Q10 attenuates the 1-methyl-4-phenyl-1,2,3,tetrahydropyridine (MPTP) induced loss of striatal dopamine and dopaminergic axons in aged mice
11. Coenzyme Q10 and nicotinamide block striatal lesions produced by the mitochondrial toxin malonate
12. Effect of idebenone on cardiomyopathy in Friedreich ataxia: A preliminary study