Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China.
Neurosci Lett. 2012 Oct 18;528(1):51-4. doi: 10.1016/j.neulet.2012.08.062. Epub 2012 Sep 7.
The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative diseases. In 2010, four missense mutations in the prodynorphin (PDYN) gene were found in two families and two sporadic cases of SCA type 23 (SCA23) from the Netherlands. In addition, one missense mutation in PDYN was also found in one sporadic SCA23 case in America in 2012. To date, there have been no reports of PDYN gene mutations in mainland China. To investigate the frequency of SCA23 among the Chinese Han population, we performed polymerase chain reaction (PCR) and DNA direct sequencing of the PDYN gene in 305 unrelated ataxia patients. Although no SCA23 mutation was identified, one novel single nucleotide polymorphism (c.255G>A, p.Lys85Lys) in exon 4 of the PDYN gene was found. This suggests that SCA23 is a rare form of dominant ataxia in the Chinese Han population.
脊髓小脑共济失调（SCA）是一组临床和遗传异质性的神经退行性疾病。2010 年，在荷兰的两个 SCA23 家系和两个散发病例中发现了前脑啡肽原（PDYN）基因中的四个错义突变。此外，2012 年在美国的一个散发 SCA23 病例中也发现了 PDYN 基因中的一个错义突变。迄今为止，在中国内地尚未有 PDYN 基因突变的报道。为了调查 SCA23 在汉族人群中的频率，我们对 305 例无关的共济失调患者进行了 PDYN 基因的聚合酶链反应（PCR）和 DNA 直接测序。虽然没有发现 SCA23 突变，但在 PDYN 基因的外显子 4 中发现了一个新的单核苷酸多态性（c.255G>A，p.Lys85Lys）。这表明 SCA23 是汉族人群中一种罕见的显性共济失调形式。
