These authors contributed equally to this work.
Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene
Article first published online: 11 MAR 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 85, Issue 2, pages 189–193, February 2014
How to Cite
Liu, Z.-J., Sun, Y.-M., Ni, W., Dong, Y., Shi, S.-S. and Wu, Z.-Y. (2014), Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene. Clinical Genetics, 85: 189–193. doi: 10.1111/cge.12120
The authors report no conflicts of interest.
- Issue published online: 13 JAN 2014
- Article first published online: 11 MAR 2013
- Accepted manuscript online: 9 FEB 2013 06:46AM EST
- Manuscript Revised: 5 FEB 2013
- Manuscript Accepted: 5 FEB 2013
- Manuscript Received: 13 DEC 2012
- 81125009. Grant Number: the National Natural Science Foundation
- CAG repeats beyond 60;
- Huntington's disease;
Patients with Huntington's disease (HD) carrying CAG repeats beyond 60 are less frequently seen and clinical features of them have been rarely reported. We identified four unrelated patients carrying CAG repeats beyond 60 (84.0 ± 13.76, ranging from 74 to 104) from 119 Chinese HD patients via direct sequencing. These four were all early onset with a mean age at presenting symptom of 9.8 ± 1.71 years. Paternal transmission was found in three of them and the fourth was apparently sporadic. In addition, they had atypical onset symptoms including epilepsy, intellectual decline, tics and walking instability, which might lead the clinicians to make the wrong diagnosis in the early stage of disease. Our work explores clinical features of Chinese HD patients with an expanded CAG repeat over 60 and may help the clinicians make a correct diagnosis in the early stage of disease.