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

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 Aging

journal_title

Neurobiology of aging

authors

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.2016.08.023

subject

Has Abstract

pub_date

2017-01-01 00:00:00

pages

214.e13-214.e15

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(16)30201-9

journal_volume

49

pub_type

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