Spinocerebellar ataxia type 11 in the Chinese Han population.
The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative diseases. Researchers have recently found that SCA type 11 (SCA11) is associated with mutations in the TTBK2 gene. In our previous work, we performed mutation detection in SCA1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy gene in Chinese SCA patients, but the genes responsible for approximately 40% of our patients have not yet been identified. To investigate the frequency of SCA11 in Chinese SCA patients, we examined the TTBK2 gene in 68 unrelated probands diagnosed with dominantly inherited ataxia using the denaturing high-performance liquid chromatography method. All analyzed samples displayed the normal elution profile, which denoted that no disease-related mutation was identified. We provided the evidence that SCA11 is a rare form of ataxia in China.
Xu
Qian
Q
Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, China.
Li
Xiaohui
X
Wang
Junling
J
Yi
JiPing
J
Lei
Lifang
L
Shen
Lu
L
Jiang
Hong
H
Xia
Kun
K
Pan
Qian
Q
Tang
Beisha
B
D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China / Q000453:epidemiology; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000235:genetics*; D055815:Young Adult
C095903:tau-tubulin kinase; D017346:Protein Serine-Threonine Kinases