Assessment of Candidate Loci in Neurological diseases

今年，我们对帕金森病的APOE变异性进行了评估，因为以前的所有研究都提供了一些不明确的结果。这项工作涉及在一个非常大的PD患者队列中分析APOE的常见编码变体（APOE类型），现在提供了关于APOE和PD的明确信息。我们继续进行评估的候选位点隐性共济失调在一系列患者从突尼斯谁有共济失调。这项工作使我们能够将这些家庭解析为具有已知突变的家庭，以及那些应该优先进行进一步遗传工作的家庭，这些遗传工作旨在寻找新的疾病遗传原因，去年已经发表了这项工作，表明外显子组测序是发现此类突变的有效方法。此外，今年，我们确定了一种儿童期发作的运动神经元疾病的病因，其形式是核黄素转运蛋白的突变。

This year we have performed an assessment of APOE variability in Parkinson's disease, as all previous studies provided somewhat unclear results. This work involved analysis of the common coding variants (epsilon types) in APOE in a very large cohort of PD patients and now provides a clear message regarding APOE and PD. We continue to perform an assessment of candidate loci for recessive ataxia in a series of patients from Tunisia who have ataxia. This work allows us to parse such families into those with known mutations, and those that should be prioritized for further genetic work aimed at finding new genetic causes of disease, and the last year has seen publication of this work, showing that exome sequencing is an efficient method to find such mutations. In addition, this year, we identified the cause of a form of childhood onset motor neuron disease, in the form of mutations in a riboflavin transporter.