Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies

作者：Kun Rodrigues Celia; Ross Owen A; Orme Tatiana; Shepherd Claire; Parkkinen Laura; Darwent Lee; Hernandez Dena; Ansorge Olaf; Clark Lorraine N; Honig Lawrence S; Marder Karen; Lemstra Afina; Scheltens Philippe; van der Flier Wiesje; Louwersheimer Eva; Holstege Henne; Rogaeva Ekaterina; St George Hyslop Peter; Londos Elisabet; Zetterberg Henrik; Barber Imelda; Braae Anne; Brown Kristelle; Morgan Kevin; Maetzler Walter; Berg Daniela; Troakes Claire; Al Sarraj Safa

来源：Neurobiology of Aging, 2017, 49: 214.e13.

DOI：10.1016/j.neurobiolaging.2016.08.023

• C9orf72
• Dementia with Lewy bodies (DLB)
• Genetic screen

C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that C9orf72 repeat expansions are not causally associated with DLB.

• 出版日期2017-1
• 单位NIH