Friedreich ataxia: Effects of genetic understanding on clinical evaluation and therapy

Archives of Neurology

Volumn 59, Issue 5, 2002, Pages 743-747

  Lynch, David R ^a   Farmer, Jennifer M ^a   Balcer, Laura J ^a   Wilson, Robert B ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

8 HYDROXYDEOXYGUANOSINE; ADENOSINE TRIPHOSPHATE; ALPHA TOCOPHEROL; AMANTADINE; ANTIOXIDANT; ASCORBIC ACID; CITALOPRAM; FRATAXIN; FREE RADICAL; GLUCOSE; HEME; IDEBENONE; IRON; IRON SULFUR PROTEIN; MALONALDEHYDE; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE; SEROTONIN DERIVATIVE; TRINUCLEOTIDE; UBIQUINONE;

CLINICAL FEATURE; CLINICAL TRIAL; DIFFERENTIAL DIAGNOSIS; ECHOCARDIOGRAPHY; FRIEDREICH ATAXIA; GENE; GENE MUTATION; GENETIC COUNSELING; HOMEOSTASIS; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; REVIEW; TREATMENT OUTCOME; TRINUCLEOTIDE REPEAT;

ANIMALS; FRIEDREICH ATAXIA; HUMANS;

EID: 0036098482     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (38)

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. Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion
4. Frataxin point mutations in 2 patients with Friedreich's ataxia and unusual clinical features
5. The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene
6. Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
7. Friedreich ataxia: From GAA triplet-repeat expansion to frataxin deficiency
8. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
9. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
10. Magnetic resonance imaging in degenerative ataxic disorders
11. Clinical and genetic abnormalities in patients with Friedreich's ataxia
12. Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy
13. Markedly different course of Friedreich's ataxia in sib pairs with similar GAA repeat expansions in the frataxin gene
14. Molecular pathogenesis of Friedreich ataxia
15. Broadened Friedreich's ataxia phenotype after gene cloning: Minimal GAA expansion causes late-onset spastic ataxia
16. Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions
17. Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
18. Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia
19. Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia
20. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: Evidence for further locus heterogeneity
21. Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families
22. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
23. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family
24. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32
25. Early onset cerebellar ataxia with retained tendon reflexes: Clinical, electrophysiological, and MRI observations in comparison with Friedreich's ataxia
26. Visual loss and recovery in a patient with Friedreich ataxia
27. Levorotatory form of 5-hydroxytryptophan in Friedreich's ataxia: Results of a double-blind drug-placebo cooperative study
28. A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia
29. Citalopram, a selective serotonin reuptake inhibitor, improves symptoms of Friedreich's ataxia
30. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
31. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia
32. Oxidative stress in patients with Friedreich's ataxia
33. Increased levels of plasma malondialdehyde in Friedreich ataxia
34. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
35. Idebenone in patients with Friedreich ataxia
36. Aconitase and mitochondrial ironsulphur protein deficiency in Friedreich's ataxia
37. Mitochondrial impairment of human muscle in Friedreich ataxia in vivo
38. Development of a multiple sclerosis functional composite as a clinical trial outcome measure