Homozygous spinocerebellar ataxia type 3 in China: a case report.

Abstract

Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene (ATXN3). However, patients with homozygous SCA3 carrying expanded CAG repeats in both alleles of ATXN3 are extremely rare. Herein, we present a case of a 50-year-old female who had homozygous SCA3 with expansion of 62/62 repeats. Segregation analysis of the patient's family showed both a contraction pattern of CAG repeat length and stable transmission. The present case demonstrated an earlier onset and more severe clinical phenotype than that seen in heterozygous individuals, suggesting that the gene dosage enhances disease severity.

• Authors: Yuchao Chen, Dan Li, Minger Wei, Menglu Zhou, Linan Zhang, Jiaoyang Yu, Mengqiu Qiu, Yi Jin, Xiaodong Lu
• Journal: The Journal of international medical research (J Int Med Res) Vol. 49 Issue 6 Pg. 3000605211021370 (Jun 2021) ISSN: 1473-2300 [Electronic] England
• PMID: 34167352 (Publication Type: Case Reports, Journal Article)

Chemical References

• Repressor Proteins

Topics

• China
• Female
• Humans
• Machado-Joseph Disease (genetics)
• Middle Aged
• Neurodegenerative Diseases
• Repressor Proteins (genetics)
• Trinucleotide Repeat Expansion (genetics)