RT期刊文章SR电子T1CLN5突变是频繁的在青少年和晚发性患者non-Finnish NCL摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP 565 571 首页10.1212 / WNL OP。0 b013e3181cff70d VO 74是7 A1 W。鑫A1 t·e·马伦A1 r·基利A1 j . Min A1 x冯A1 y曹A1 l . O ' malley A1 y沈A1 c Chu-Shore A1 s e·摩尔A1 h . h . Goebel A1 K。Sims年2010 UL http://n.neu首页rology.org/content/74/7/565.abstract AB目的:探索潜在的扩张芬兰变体的表型和基因型特征late-infantile神经元ceroid lipofuscinosis (NCL),我们筛选了一批47名患者临床诊断NCL谁没有分子诊断。方法:用PCR扩增基因组DNA,其次是使dideoxy-nucleotide链终止测序和多路复用ligation-dependent探测器放大,筛选我们CLN5突变的患者群。我们收集的种族背景、临床和病理信息,可用,澄清CLN5疾病的宽度表达式并探索可能的genotype-phenotype相关性。结果:我们发现10患者致病CLN5突变,包括11个突变不是先前描述:4错义,5帧频失调的插入/缺失突变,和2大基因内删除。我们也记录3之前报道CLN5突变。发病年龄的群体主要是青少年,而不是幼稚的。重要的是,我们已经确认了2成人患者共享一个共同的致病基因。大多数病人提供电机和视觉障碍,而不是癫痫。 In those patients with available longitudinal data, most had progressed to global neurodevelopmental and visual failure with seizures within 1 to 4 years. Conclusions: Our study suggests that CLN5 mutations 1) are more common in patients with neuronal ceroid lipofuscinosis (NCL) than previously reported, 2) are found in non-Finnish NCL patients of broad ethnic diversity, and 3) can be identified in NCL patients with disease onset in adult and juvenile epochs. CLN5 genetic testing is warranted in a wider population with clinical and pathologic features suggestive of an NCL disorder. EM=electron microscopy; MLPA=multiplex ligation-dependent probe amplification; mRNA=messenger RNA; NCL=neuronal ceroid lipofuscinosis; PTC=premature termination codon.

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