molecular genetic analysis of the three hereditary neurodegenerative disorders specifically in Japan

我们专门在日本研究了这三种遗传性神经退行性疾病的分子遗传学。对冲绳地区遗传性运动和感觉神经病(HMSN-P)患者的trk融合基因突变进行了鉴定。宫城县遗传性球形弥漫性白质脑病(HDLS)的临床特征于1997年被详细报道。因此，2011年，梅奥医学院小组发现了CSF1R基因突变。我们用16Q-ADCA(SCA31)确定了2.5-3.1kb的重复插入。否则，重复长度与九州岛南部地区的临床特征无相关性。此外，还确定了16Q-ADCA无重复插入情况。以期对其发病机制的阐明有所裨益。

We studied molecular genetics of the three hereditary neurodegenerative disorders specifically in Japan. TRK-fused gene mutation with hereditary motor and sensory neuropathy (HMSN-P) in Okinawa was identified. Clinical features of hereditary diffuse leukoencephalopathy with spheroids (HDLS) in Miyakonojo were established in detail in 1997. Accordingly CSF1R gene mutation was identified by Mayo medical school group in 2011. We identified 2.5-3.1kb repeat insertion with 16q-ADCA(SCA31). Otherwise, repeat length is not correlated with clinical feature in southern kyusyu. Furthermore, 16q-ADCA case without repeat insertion are determined. It is expected for theclarification of the pathogenesis.