Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease

被引：1

作者：

Vieira, Sophia R. L. ^{[1
]}

Mezabrovschi, Roxana ^{[1
]}

Toffoli, Marco ^{[1
]}

Del Pozo, Sara Lucas ^{[1
]}

Menozzi, Elisa ^{[1
]}

Mullin, Stephen ^{[1
,2
]}

Yalkic, Selen ^{[1
]}

Limbachiya, Naomi ^{[1
]}

Koletsi, Sofia ^{[1
,3
]}

Loefflad, Nadine ^{[1
]}

Lopez, Grisel J. ^{[4
]}

Gan-Or, Ziv ^{[5
,6
]}

Alcalay, Roy N. ^{[7
,8
]}

Sidransky, Ellen ^{[3
,4
]}

Schapira, Anthony H. V. ^{[1
,3
]}

机构：

[1] Univ Coll London Queen Sq, Dept Clin & Movement Neurosci, Inst Neurol, London, England

[2] Univ Plymouth, Fac Hlth, Plymouth, England

[3] Aligning Sci Parkinsons Collaborat Res Network, Chevy Chase, MD USA

[4] Natl Human Genome Res Inst, Med Genet Branch, NIH, Bethesda, MD USA

[5] McGill Univ, Neuro Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, Canada

[6] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[7] Columbia Univ, Irving Med Ctr, New York, NY USA

[8] Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Tel Aviv Sch Med, Tel Aviv, Israel

来源：

MOVEMENT DISORDERS | 2024年 / 39卷 / 12期

关键词：

GBA1; Parkinson's; counseling; neurodegeneration; risk; GLUCOCEREBROSIDASE MUTATIONS; GAUCHER-DISEASE; ASSOCIATION; RISK; MULTICENTER; PROGRESSION; DEMENTIA; POLYMORPHISM; SURVIVAL; MOTOR;

D O I：

10.1002/mds.30006

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Glucocerebrosidase (GBA1) variants constitute numerically the most common known genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to GBA1 genotyping varies across the world and even regionally within countries. Guidelines for GBA1 variant counseling are evolving. We review the current knowledge of the link between GBA1 and PD, and discuss the practicalities of GBA1 testing. Lastly, we provide a consensus for an approach to counseling people with GBA1 variants, notably the communication of PD risk. (c) 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

引用

页码：2144 / 2154

页数：11

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