Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder (Letter)

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Puschmann, Andreas
Fiesel, Fabienne C
Caulfield, Thomas R
Hudec, Roman
Ando, Maya
Truban, Dominika
Hou, Xu
Ogaki, Kotaro
Heckman, Michael G
James, Elle D
Swanberg, Maria
Jimenez-Ferrer, Itzia
Hansson, Oskar
Mellick, George D
et al.
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2017
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Abstract

We read with great interest that Gan-Or et al. (2017) have observed an association (albeit not reaching statistical significance) of the heterozygous PINK1 p.G411S mutation and rapid eye movement sleep behaviour disorder [RBD; effect size odds ratio (OR) of 2.49] in their multicentre cohort of 350 RBD patients and 869 controls subjects (Gan-Or et al., 2017). Given the strong correlation of RBD with Parkinson’s disease, we interpret this as further support for our observation on 9142 individuals showing that heterozygous PINK1 p.G411S mutation confers a marked increase in Parkinson’s disease risk odds ratio = 2.89, P = 0.027 (Puschmann et al., 2017).

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Brain

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140

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6

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Biomedical and clinical sciences

Psychology

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Life Sciences & Biomedicine

Clinical Neurology

Neurosciences & Neurology

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Puschmann, A; Fiesel, FC; Caulfield, TR; Hudec, R; Ando, M; Truban, D; Hou, X; Ogaki, K; Heckman, MG; James, ED; Swanberg, M; Jimenez-Ferrer, I; Hansson, O; Mellick, GD; et al.; Springer, W, Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder (Letter), Brain, 2017, 140 (6), pp. e33

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