Abstract:
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). Immunohistochemistry and immunofluorescence studies were performed on pathologic LBD cases with rare CHCHD2 variants. RESULTS:We identified 9 rare exonic variants of unknown significance. These variants were more frequent in the combined group of PD and LBD patients compared to controls (0.6% vs 0.1%, p = 0.013). In addition, the presence of any rare variant was more common in patients with LBD (2.5% vs 1.0%, p = 0.050) compared to controls. Eight of these 9 variants were located within the gene's mitochondrial targeting sequence. CONCLUSIONS:Although the role of variants of the CHCHD2 gene in PD and LBD remains to be further elucidated, the rare variants in the mitochondrial targeting sequence may be a risk factor for Lewy body disorders, which may link CHCHD2 to other genetic forms of parkinsonism with mitochondrial dysfunction.
journal_name
Neurologyjournal_title
Neurologyauthors
Ogaki K,Koga S,Heckman MG,Fiesel FC,Ando M,Labbé C,Lorenzo-Betancor O,Moussaud-Lamodière EL,Soto-Ortolaza AI,Walton RL,Strongosky AJ,Uitti RJ,McCarthy A,Lynch T,Siuda J,Opala G,Rudzinska M,Krygowska-Wajs A,Barcikowskadoi
10.1212/WNL.0000000000002170subject
Has Abstractpub_date
2015-12-08 00:00:00pages
2016-25issue
23eissn
0028-3878issn
1526-632Xpii
WNL.0000000000002170journal_volume
85pub_type
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