A family with mild clinical manifestations of spinocerebellar ataxia type 1 (SCA1): correlation with smaller CAG repeats

T. Kameya, Koji Abe, M. Aoki, Y. Itoyama

Research output: Contribution to journalReview article

1 Citation (Scopus)

Abstract

Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat. We analyzed CAG repeat expansion in one Japanese SCA1 family with mild clinical manifestations. Clinically, this SCA1 family showed less frequent nystagmus (p = 0.045, Fisher's exact‐test) in comparison with duration‐matched control patients with larger numbers of CAG repeats (48.4 ± 4.2, p < 0.01). Some patients showed no other signs than cerebellar ataxia in the earlier stage. All six patients had expanded alleles for SCA1 with relatively small CAG repeats (41.5 ± 1.0, mean ± SD), which may be related to the mild clinical symptoms of the disease. The present results also suggest that slow saccades and amyotrophy are constantly observed in 30–40% of SCA1 patients without regard to the size of CAG repeats, while the frequency of nystagmus decreases with reduction in size of the CAG expansion. 1995 Lippincott Williams & Wilkins

Original languageEnglish
Pages (from-to)349-355
Number of pages7
JournalEuropean Journal of Neurology
Volume2
Issue number4
DOIs
Publication statusPublished - 1995
Externally publishedYes

Keywords

  • CAG trinucleotide repeat
  • Hereditary ataxia
  • Magnetic resonance imaging (MRI)
  • Spinocerebellar ataxia type 1 (SCA1)

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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