TY - T1的多样化和不稳定Pentanucleotide重复在脊髓小脑的共济失调型31 (SCA31)轨迹在白种人(P05.017) JF -神经学乔-神经病学SP - P05.017 LP - P05.017六世- 78 - 1补充AU - Kinya石川AU -亚历山德拉·首页杜尔AU -托马斯Klopstock盟Nozomu佐藤盟Giovanni Stevanin AU - Alexis布赖斯盟Hidehiro Mizusawa Y1 - 2012/04/25 UR - //www.ez-admanager.com/content/78/1_Supplement/P05.017.abstract N2 -目的:澄清是否脊髓小脑的共济失调型31 (SCA31)也出现在高加索人群。背景SCA31纯粹是晚发性小脑性共济失调最近发现是由于一个2.5到3.8公斤碱基对(kb)的插入,它由一个复杂的penta-nucleotide重复包含(TGGAA) n, n (TAGAA)和(TAAAA) n,在一个intronic地区由两个不同的基因,共享BEAN(大脑表示,与Nedd4)和TK2(胸苷激酶2)在染色体16 q22.1。插入的重复基因在转录形成异常RNA聚合SCA31浦肯野细胞。在这些pentanucleotide重复(TGGAA) n是唯一的重复与表型隔离,表明它在发病机理的重要性。SCA31在日本是很常见的,但没有在其他国家被描述。设计/方法:法国和德国的群SCA指数病人没有已知的突变进行了分析(271法国和德国指数患者49)。健康对照组由285名法国士兵以及303名德国人还测试了。SCA31轨迹及其附近的标记进行了分析(如前所述)。结果:49岁的德国和271年的31日法国SCA指数异常患者进行扩张介于1.3和6.0 kb。不过,所有白人扩张也纯粹的延伸(TACAA) n, n (GAAAA)没有任何(TGGAA) n, n (TAGAA)或(TAAAA) n在日本发现病例。疾病家庭的扩张没有隔离测试。 4.56% (26/570) of French and 6.6% (40/606) of German control chromosomes also harbored expansions. Nucleotide sequencing revealed two new pure expansions, (TAACA)n and (TGAAA)n. Overall, penta-nucleotides expansions in all Caucasian samples were 100 out of 1816 chromosomes (5.5%), among which (TACAA)n was far prevalent than others.Conclusions: SCA31 expansions with (TGGAA)n appears unique for Japanese. SCA31 is a novel locus that shows various pentanuclotide repeats distinct among ethnicity. Further analyses are needed to clarify whether Caucasian expansions may cause RNA aggregation in neurons as (UGGAA)n expansion in Japanese.Supported by: A grant from Japanese the Health and Labour Sciences Research Grants on Ataxic Diseases, Ministry of Health, Labour and Welfare, Japan, the Grants-in-Aid for Scientific Research, Japan Society for the Promotion of Science, Japan, the 21st Century COE Program, Brain Integration and its Disorders, the Ministry of Education, Science and Culture, Japan, the European Union (to A.B., contract LSHM-CT-2004-503304/E040044DD), and from the Programme Hospitalier de Recherche Clinique (to A.D., contracts AOM03059/R05129DD, and AOM10094). K. I. was a Visiting Fellow at the Center for Advanced Studies of the Ludwig-Maximilians-Universität München (CAS-LMU) from September 20th to October 12th, 2009.Disclosure: Dr. Ishikawa has nothing to disclose. Dr. Durr has nothing to disclose. Dr. Klopstock has received personal compensation for activities with Gerson Lehrman Group as a consultant. Dr. Sato has nothing to disclose. Dr. Stevanin has nothing to disclose. Dr. Brice has nothing to disclose. Dr. Mizusawa has received personal compensation for activities with Tanabemitsubishi Co and Sanofi-Aventis Co. Dr. Mizusawa has received personal compensation in an editorial capacity for No to Shinkei and Clinical Neuroscience.Wednesday, April 25 2012, 14:00 pm-19:00 pm ER -