Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene.

Liu ZJ, Sun YM, Ni W, Dong Y, Shi SS, Wu ZY.

Source

Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai, China; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.

Abstract

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 4 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 4 were all early-onset with a mean age at presenting symptom of 9.8 ± 1.71 years. Paternal transmission was found in 3 of them and in 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.
© 2013 John Wiley & Sons A/S.

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Wednesday, February 13, 2013