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

T. Abe, Koji Abe, T. Tsuda, Y. Itoyama, M. Tamai

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Background: Optic atrophy, attenuation of the oscillatory potentials (OPs) of the electroretinogram (ERG), and enlargement of corneal endothelial cells, have been reported in patients with spinocerebellar ataxia type 1 (SCA1). These patients have a trinucleotide repeat expansion in the SCA1 gene and show neurological anticipation. The purpose of this study was to determine whether the ophthalmological findings are correlated with the neurological disorders, and whether ophthalmological anticipation is present in patients with SCA1. Methods: The visual acuity, ERGs, and corneal endothelial cell density were examined in 14 patients whose DNA analysis revealed an expanded trinucleotide repeat in an allele of the SCA1 gene. The results of the tests were compared with the trinucleotide repeat number and the duration of the neuronal disease. Results: The neurological disorders in the patients showed anticipation. The negative correlation between the trinucleotide repeat number and the neurological disorder was statistically significant (P

Original languageEnglish
Pages (from-to)722-728
Number of pages7
JournalGraefe's Archive for Clinical and Experimental Ophthalmology
Volume239
Issue number10
Publication statusPublished - 2001

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Spinocerebellar Ataxias
Nervous System Diseases
Trinucleotide Repeat Expansion
Trinucleotide Repeats
Endothelial Cells
Optic Atrophy
Genes
Visual Acuity
Cell Count
Alleles
DNA

ASJC Scopus subject areas

  • Ophthalmology

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Ophthalmological findings in patients with spinocerebellar ataxia type 1 are not correlated with neurological anticipation. / Abe, T.; Abe, Koji; Tsuda, T.; Itoyama, Y.; Tamai, M.

In: Graefe's Archive for Clinical and Experimental Ophthalmology, Vol. 239, No. 10, 2001, p. 722-728.

Research output: Contribution to journalArticle

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