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Dilemma in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease:Comorbidity or Independent Disease?
Li, An; Yao, Sheng; Liu, Jianguo; Qi, Xiaokun; Duan, Feng; Sun, Chenjing.
Afiliação
  • Li A; Department of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, China.
  • Yao S; Department of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, China.
  • Liu J; Department of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, China.
  • Qi X; Department of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, China.
  • Duan F; Department of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, China.
  • Sun C; Department of Neurology, The Sixth Medical Center of PLA General Hospital, Beijing, China.
Int J Neurosci ; : 1-9, 2023 Oct 19.
Article em En | MEDLINE | ID: mdl-37855597
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?
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article