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, Vol. 107, 02.2023, p. 105248.Research output: SCORING: Contribution to journal › Letter › Research › peer-review
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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 -