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Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants

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Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants. / Usnich, Tatiana; Olmedillas, Maria; Schell, Nathalie; Paul, Jefri J; Curado, Filipa; Skobalj, Snezana; Csoti, Ilona; Ertan, Sibel; Gruber, Doreen; Zittel, Simone; Sammler, Esther; Isaacson, Stuart H; Kühn, Andrea A; Pedrosa, David J; Reetz, Kathrin; Kasten, Meike; Rolfs, Arndt; Bauer, Peter; Skrahina, Volha; Klein, Christine; Brüggemann, Norbert; LIPAD Study Group.

in: PARKINSONISM RELAT D, Jahrgang 107, 02.2023, S. 105248.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › Letter › Forschung › Begutachtung

Harvard

Usnich, T, Olmedillas, M, Schell, N, Paul, JJ, Curado, F, Skobalj, S, Csoti, I, Ertan, S, Gruber, D, Zittel, S, Sammler, E, Isaacson, SH, Kühn, AA, Pedrosa, DJ, Reetz, K, Kasten, M, Rolfs, A, Bauer, P, Skrahina, V, Klein, C, Brüggemann, N & LIPAD Study Group 2023, 'Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants', PARKINSONISM RELAT D, Jg. 107, S. 105248. https://doi.org/10.1016/j.parkreldis.2022.105248

APA

Usnich, T., Olmedillas, M., Schell, N., Paul, J. J., Curado, F., Skobalj, S., Csoti, I., Ertan, S., Gruber, D., Zittel, S., Sammler, E., Isaacson, S. H., Kühn, A. A., Pedrosa, D. J., Reetz, K., Kasten, M., Rolfs, A., Bauer, P., Skrahina, V., ... LIPAD Study Group (2023). Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants. PARKINSONISM RELAT D, 107, 105248. https://doi.org/10.1016/j.parkreldis.2022.105248

Vancouver

Usnich T, Olmedillas M, Schell N, Paul JJ, Curado F, Skobalj S et al. Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants. PARKINSONISM RELAT D. 2023 Feb;107:105248. https://doi.org/10.1016/j.parkreldis.2022.105248

Bibtex

@article{69edb9b818d84a3c893254677799da4e,
title = "Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants",
abstract = "Variants in the GBA (glucocerebrosidase) gene are the most common genetic risk factor for the development of Parkinson's disease (PD). Depending on the variant and the population, the risk of PD is increased by 2 to 28-fold [ [1]]. Biallelic severe and mild pathogenic variants cause Gaucher's disease, whereas p.Glu365Lys (E326K) and p.Thr408Met (T369M) are classified as PD risk variants. In particular, the variants E326K and T369M are common in Europeans and increase the risk of PD by a factor of about 2 in the heterozygous state [ [1]]. A recent genetic screening study of 1360 participants identified 8.5% of PD patients to carry heterozygous GBA variants of all kinds (pathogenic or likely pathogenic for GD or significantly enriched in PD patients vs. controls; in the following collectively referred to as GBA-PD), confirming E326K (35/109; 32%) and T369M (32/109; 29%) to be the most frequent [ [2]].",
author = "Tatiana Usnich and Maria Olmedillas and Nathalie Schell and Paul, {Jefri J} and Filipa Curado and Snezana Skobalj and Ilona Csoti and Sibel Ertan and Doreen Gruber and Simone Zittel and Esther Sammler and Isaacson, {Stuart H} and K{\"u}hn, {Andrea A} and Pedrosa, {David J} and Kathrin Reetz and Meike Kasten and Arndt Rolfs and Peter Bauer and Volha Skrahina and Christine Klein and Norbert Br{\"u}ggemann and {LIPAD Study Group}",
year = "2023",
month = feb,
doi = "10.1016/j.parkreldis.2022.105248",
language = "English",
volume = "107",
pages = "105248",
journal = "PARKINSONISM RELAT D",
issn = "1353-8020",
publisher = "Elsevier BV",

}

RIS

TY - JOUR

T1 - Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants

AU - Usnich, Tatiana

AU - Olmedillas, Maria

AU - Schell, Nathalie

AU - Paul, Jefri J

AU - Curado, Filipa

AU - Skobalj, Snezana

AU - Csoti, Ilona

AU - Ertan, Sibel

AU - Gruber, Doreen

AU - Zittel, Simone

AU - Sammler, Esther

AU - Isaacson, Stuart H

AU - Kühn, Andrea A

AU - Pedrosa, David J

AU - Reetz, Kathrin

AU - Kasten, Meike

AU - Rolfs, Arndt

AU - Bauer, Peter

AU - Skrahina, Volha

AU - Klein, Christine

AU - Brüggemann, Norbert

AU - LIPAD Study Group

PY - 2023/2

Y1 - 2023/2

N2 - Variants in the GBA (glucocerebrosidase) gene are the most common genetic risk factor for the development of Parkinson's disease (PD). Depending on the variant and the population, the risk of PD is increased by 2 to 28-fold [ [1]]. Biallelic severe and mild pathogenic variants cause Gaucher's disease, whereas p.Glu365Lys (E326K) and p.Thr408Met (T369M) are classified as PD risk variants. In particular, the variants E326K and T369M are common in Europeans and increase the risk of PD by a factor of about 2 in the heterozygous state [ [1]]. A recent genetic screening study of 1360 participants identified 8.5% of PD patients to carry heterozygous GBA variants of all kinds (pathogenic or likely pathogenic for GD or significantly enriched in PD patients vs. controls; in the following collectively referred to as GBA-PD), confirming E326K (35/109; 32%) and T369M (32/109; 29%) to be the most frequent [ [2]].

AB - Variants in the GBA (glucocerebrosidase) gene are the most common genetic risk factor for the development of Parkinson's disease (PD). Depending on the variant and the population, the risk of PD is increased by 2 to 28-fold [ [1]]. Biallelic severe and mild pathogenic variants cause Gaucher's disease, whereas p.Glu365Lys (E326K) and p.Thr408Met (T369M) are classified as PD risk variants. In particular, the variants E326K and T369M are common in Europeans and increase the risk of PD by a factor of about 2 in the heterozygous state [ [1]]. A recent genetic screening study of 1360 participants identified 8.5% of PD patients to carry heterozygous GBA variants of all kinds (pathogenic or likely pathogenic for GD or significantly enriched in PD patients vs. controls; in the following collectively referred to as GBA-PD), confirming E326K (35/109; 32%) and T369M (32/109; 29%) to be the most frequent [ [2]].

U2 - 10.1016/j.parkreldis.2022.105248

DO - 10.1016/j.parkreldis.2022.105248

M3 - Letter

C2 - 36565535

VL - 107

SP - 105248

JO - PARKINSONISM RELAT D

JF - PARKINSONISM RELAT D

SN - 1353-8020

ER -