Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia of mixed type (Alzheimer disease and vascular dementia). We identified a novel heterozygous c.G1135T (p.G379W) variant in SORL1 which segregated with the disease in the family. Mutation screening in sporadic Greek PD cases identified one additional individual with the mutation, sharing the same 12.8Mb haplotype. Our findings provide support for SORL1 mutations resulting in a broad range of additional phenotypes and warrants further studies in neurodegenerative diseases beyond AD.

中文翻译：

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一个患有帕金森病和痴呆症的希腊家庭的 SORL1 突变

全外显子组测序和连锁分析在希腊血统的三代谱系中进行，具有从帕金森病和帕金森病痴呆到混合型痴呆（阿尔茨海默病和血管性痴呆）的广泛表型谱。我们在SORL1中发现了一种新的杂合 c.G1135T (p.G379W) 变体，它与家族中的疾病分离。对散发性希腊 PD 病例的突变筛查确定了另外一个具有突变的个体，共享相同的 12.8Mb 单倍型。我们的研究结果为SORL1突变提供了支持，导致广泛的其他表型，并值得进一步研究 AD 以外的神经退行性疾病。