Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.

doi:10.1212/WNL.0000000000002170

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Article

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.

Neurology - 8 Dec 2015

Ogaki Kotaro, Koga Shunsuke, Heckman Michael G, Fiesel Fabienne C, Ando Maya, Labbé Catherine, Lorenzo-Betancor Oswaldo, Moussaud-Lamodière Elisabeth L, Soto-Ortolaza Alexandra I, Walton Ronald L, Strongosky Audrey J, Uitti Ryan J, McCarthy Allan, Lynch Timothy, Siuda Joanna, Opala Grzegorz, Rudzinska Monika, Krygowska-Wajs Anna, Barcikowska Maria, Czyzewski Krzysztof, Puschmann Andreas, Nishioka Kenya, Funayama Manabu, Hattori Nobutaka, Parisi Joseph E, Petersen Ronald C, Graff-Radford Neill R, Boeve Bradley F, Springer Wolfdieter, Wszolek Zbigniew K, Dickson Dennis W, Ross Owen A

Abstract excerpt

OBJECTIVE: To assess the role of CHCHD2 variants in patients with Parkinson disease (PD) and Lewy body disease (LBD) in Caucasian populations. METHODS: All exons of the CHCHD2 gene were sequenced in a US Caucasian patient-control series (878 PD, 610 LBD, and 717 controls). Subsequently, exons 1 and 2 were sequenced in an Irish series (355 PD and 365 controls) and a Polish series (394 PD and 350 controls)....

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Identifiers

PMID: 26561290
DOI: 10.1212/WNL.0000000000002170
PMCID: PMC4676755

Genes

CHCHD2

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