Abstract:
: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.
journal_name
Neurobiol Agingjournal_title
Neurobiology of agingauthors
Kun-Rodrigues C,Ross OA,Orme T,Shepherd C,Parkkinen L,Darwent L,Hernandez D,Ansorge O,Clark LN,Honig LS,Marder K,Lemstra A,Scheltens P,van der Flier W,Louwersheimer E,Holstege H,Rogaeva E,St George-Hyslop P,Londos E,doi
10.1016/j.neurobiolaging.2016.08.023subject
Has Abstractpub_date
2017-01-01 00:00:00pages
214.e13-214.e15eissn
0197-4580issn
1558-1497pii
S0197-4580(16)30201-9journal_volume
49pub_type
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