Dilemma in differentiation of spinocerebellar ataxia type 17 from Huntington's disease: comorbidity or independent disease?

Int J Neurosci. 2024 Dec;134(12):1564-1568. doi: 10.1080/00207454.2023.2273766. Epub 2023 Oct 31.

Abstract

Both Huntington's disease (HD) and Spinocerebellar ataxia 17 (SCA17) mutations showed expanded CAG repeats, with overlapping clinical manifestation: motor disorders, psychiatric symptoms and cognitive impairments. Therefore, SCA17 is also called Huntington like disease (HD-like, HDL) type 4. In this paper, we reported that one patient had 47 CAG repeats in HTT gene and 42 CAG repeats in TBP gene. There is a dilemma in differentiation of SCA 17 from HD in one patient, never been reported before. Is the diagnosis comorbidity of HD with SCA17 or HD only?

Keywords: Huntington’s disease; Repeat expansion diseases; spinocerebellar ataxia 17.

Publication types

  • Case Reports

MeSH terms

  • Comorbidity
  • Diagnosis, Differential
  • Humans
  • Huntingtin Protein* / genetics
  • Huntington Disease* / complications
  • Huntington Disease* / epidemiology
  • Huntington Disease* / genetics
  • Spinocerebellar Ataxias* / epidemiology
  • Spinocerebellar Ataxias* / genetics
  • TATA-Box Binding Protein* / genetics
  • Trinucleotide Repeat Expansion / genetics

Substances

  • HTT protein, human
  • Huntingtin Protein
  • TATA-Box Binding Protein
  • TBP protein, human

Supplementary concepts

  • Spinocerebellar Ataxia 17