Unknown

Dataset Information

0

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.

SUBMITTER: Kun-Rodrigues C 

PROVIDER: S-EPMC5154872 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Kun-Rodrigues Celia C   Ross Owen A OA   Orme Tatiana T   Shepherd Claire C   Parkkinen Laura L   Darwent Lee L   Hernandez Dena D   Ansorge Olaf O   Clark Lorraine N LN   Honig Lawrence S LS   Marder Karen K   Lemstra Afina A   Scheltens Philippe P   van der Flier Wiesje W   Louwersheimer Eva E   Holstege Henne H   Rogaeva Ekaterina E   St George-Hyslop Peter P   Londos Elisabet E   Zetterberg Henrik H   Barber Imelda I   Braae Anne A   Brown Kristelle K   Morgan Kevin K   Maetzler Walter W   Berg Daniela D   Troakes Claire C   Al-Sarraj Safa S   Lashley Tammaryn T   Holton Janice J   Compta Yaroslau Y   Van Deerlin Vivianna V   Trojanowski John Q JQ   Serrano Geidy E GE   Beach Thomas G TG   Clarimon Jordi J   Lleó Alberto A   Morenas-Rodríguez Estrella E   Lesage Suzanne S   Galasko Douglas D   Masliah Eliezer E   Santana Isabel I   Diez Monica M   Pastor Pau P   Tienari Pentti J PJ   Myllykangas Liisa L   Oinas Minna M   Revesz Tamas T   Lees Andrew A   Boeve Brad F BF   Petersen Ronald C RC   Ferman Tanis J TJ   Escott-Price Valentina V   Graff-Radford Neill N   Cairns Nigel J NJ   Morris John C JC   Stone David J DJ   Pickering-Brown Stuart S   Mann David D   Dickson Dennis W DW   Halliday Glenda M GM   Singleton Andrew A   Guerreiro Rita R   Bras Jose J  

Neurobiology of aging 20160902

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 c  ...[more]

Similar Datasets

Unknown Long-Term Cognitive Decline in Dementia with Lewy Bodies in a Large Multicenter, International Cohort.
| S-EPMC5392154 | biostudies-literature
Unknown C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis.
| S-EPMC4724461 | biostudies-literature
Unknown Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.
| S-EPMC7893598 | biostudies-literature
Unknown Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.
| S-EPMC4545506 | biostudies-literature
Unknown Vulnerability of multiple large-scale brain networks in dementia with Lewy bodies.
| S-EPMC6917031 | biostudies-literature
Unknown Advances in dementia with Lewy bodies.
| S-EPMC8613883 | biostudies-literature
Unknown Microbleeds in dementia with Lewy bodies.
| S-EPMC7184053 | biostudies-literature
Unknown C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.
| S-EPMC3681841 | biostudies-literature
Unknown Screening for C9orf72 repeat expansions in parkinsonian syndromes.
| S-EPMC4022748 | biostudies-literature
Unknown Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
| S-EPMC4321829 | biostudies-literature