Ophthalmological findings in patients with spinocerebellar ataxia type 1 are not correlated with neurological anticipation

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 239, Issue 10, 2001, Pages 722-728

  Abe, Toshiaki ^a   Abe, Koji ^b   Tsuda, Takehide ^a   Itoyama, Yasuto ^a   Tamai, Makoto ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b OKAYAMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRINUCLEOTIDE;

ADULT; AGED; ALLELE; ANTICIPATION; ARTICLE; CELL DENSITY; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA ENDOTHELIUM; CORRELATION FUNCTION; DISEASE DURATION; DNA DETERMINATION; ELECTRORETINOGRAM; ENDOTHELIUM CELL; FEMALE; HUMAN; HUMAN CELL; MALE; NEUROLOGIC DISEASE; OPTIC NERVE ATROPHY; OSCILLATORY POTENTIAL; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; STATISTICAL ANALYSIS; TRINUCLEOTIDE REPEAT; VISUAL ACUITY;

EID: 0035162694     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004170100342     Document Type: Article

References (24)

1. Partially deficient glutamate dehydrogenase activity and attenuated oscillatory potentials in patients with spinocerebellar degeneration
2. Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene
3. Lens epithelial changes and mutated gene expression in patients with myotonic dystrophy
4. Corneal endothelial changes and trinucleotide repeat expansion of DRPLA gene
5. Macular degeneration associated with aberrant expansion of trinucleotide repeat of the SCA7 gene in 2 Japanese families
6. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
7. Identification and characterization of the gene causing type 1 spinocerebellar ataxia
8. Guidelines for calibration of stimulus and recording parameters used in clinical electrophysiology of vision
9. Progress in pathogenesis studies of spinocerebellar ataxia type 1
10. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
11. Olivopontocerebellar atrophy with visual disturbances. An ophthalmologic investigation into four generations
12. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'
13. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
14. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
15. Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1
16. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
17. The olivopontocerebellar atrophies: A review
18. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
19. Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
20. Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias
21. Two types of retinal degeneration in cerebellar mutant mice
22. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
23. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
24. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel