[The correlation of CAGs repeat size with age of onset in patients with Kennedy's disease].
OBJECTIVE
To investigate the correlation of CAGs repeat size and age of onset in patients with Kennedy's Disease (KD).


METHODS
We detected the number of CAG repeats in the androgen receptor genes in 30 patients with KD. The correlation of CAGs repeat size with age of onset was analyzed. At the same time, the Appel scale that could represent the degree of motor functional impairment was scored in every patient. The correlation of Appel scale with CAGs repeat size and the course of disease were analyzed.


RESULTS
Significant correlation was found between the number of CAGs with age of onset (r = -0.671, P < 0.01). There was also correlation between the Appel score and the course of disease (r = 0.855, P < 0.01), but no correlation between the Appel score and the number of CAGs (r = 0.100, P = 0.601).


CONCLUSIONS
It is found that in Kennedy' disease, as well as in other CAG repeat diseases, the length of polyglutamine tract determines the age of onset, but has no correlation with the severity of the disease.
Lu
Ming
M
Department of Neurology, Peking University, the Third Hospital, Beijing 100191, China.
Wang
Xiao-Zhu
XZ
Zhang
Jun
J
Zhao
Hai-Yan
HY
Sun
A-Ping
AP
Song
Le-Guan
LG
Fan
Dong-Sheng
DS
D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019680:Trinucleotide Repeat Expansion