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Dilemma in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease:Comorbidity or Independent Disease?

An LiSheng YaoJianguo LiuXiaokun QiFeng DuanChenjing Sun
Published in: The International journal of neuroscience (2023)
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?
Keyphrases
  • case report
  • genome wide
  • mental health
  • copy number
  • physical activity
  • transcription factor