Friedreich's ataxia

Journal of Child Neurology

Volumn 17, Issue 5, 2002, Pages 315-319

  Pilch, Jacek ^a   Jamroz, Ewa ^a   Marszał, Elizbieta ^a  

^a MEDICAL UNIVERSITY OF SILESIA   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCYSTEINE; ALPHA TOCOPHEROL; ANTIOXIDANT; CITALOPRAM; IDEBENONE; SELENIUM;

AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHILDHOOD DISEASE; CONTROLLED STUDY; CORRELATION ANALYSIS; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; FRIEDREICH ATAXIA; GENOTYPE; HUMAN; HUMAN GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; EXON; GENETICS; ONSET AGE; POINT MUTATION;

AGE OF ONSET; DIAGNOSIS, DIFFERENTIAL; EXONS; FRIEDREICH ATAXIA; GENOTYPE; HUMANS; PHENOTYPE; POINT MUTATION;

EID: 0036557952     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380201700501     Document Type: Review

References (49)

1. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features
2. Mutacje dynamiczne w chorobach zwyrodnieniowych układu nerwowego
3. Znaczenie mutacji dynamicznych w genetycznie uwarunkowanych chorobach układu nerwowego
4. Autosomal dominant cerebellar phenotypes: The genotype has settled the issue
5. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy and Machado-Josef disease mutations in a large group of spinocerebellar ataxia patients
6. Molecular basis of the neurodegenerative disorders
7. Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations
8. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
9. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
10. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
11. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
12. Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia
13. Mendelian Inheritance in Men. A Catalog of Human Genes and Genetic Disorders
14. Friedreich-like ataxia with retinitis pigmentosa caused by the His1O1Gln mutation of the alpha-tocopherol transfer protein gene
15. Breaking the rule of three
16. Childhood onset of Friedreich ataxia; a clinical and genetic study of 36 cases
17. Friedreich's ataxia with retained tendon reflexes; molecular genetics, clinical neurophysiology and magnetic resonance imaging
18. Heredodegenerative disorders
19. Spinocerebellar degeneration and cerebral hypomyelination in a family
20. Choroba friedreicha
21. Mapping of mutation causing Friedreich's ataxia to human chromosome 9
22. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
23. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene
24. Molecular analysis of patients with a Friedreich ataxia phenotype not homozygous for the GAA repeat expansion: Evidence for genetic heterogeneity
25. Friedreich's ataxia is a mitochondrial disorder
26. Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
27. Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase
28. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
29. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
30. Deletion of the yeast homologue of the human gene associated with Freidreich's ataxia elicits iron accumulation in mitochondria
31. The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle
32. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
33. Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia
34. Mitochondrial dysfunction in neurodegenerative disorders
35. Choroby zwyrodnieniowe układu nerwowego
36. Friedreich ataxia in Acadian families from eastern Canada: Clinical diversity with conserved haplotypes
37. Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
38. Clinical phenotypes: Diagnosis algorithms
39. Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia
40. Ataxia with isolated vitamin E deficiency in four siblings
41. Progress in diagnosis of spinocerebellar diseases
42. Determinants of onset age in Friedreich's ataxia
43. A mild case of Friedreich ataxia: Lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism
44. Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
45. The treatment of spinocerebellar ataxias: Facts and hypotheses
46. Abnormalities of antioxidant metabolism in a case of Friedreich's disease
47. Citalopram, a selective serotonin reuptake inhibitor, improves symptoms of Friedreich's ataxia
48. Antioxidants and Friedreich's ataxia
49. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study