The Lysosome and Nonmotor Symptoms: Linking Parkinson's Disease and Lysosomal Storage Disorders

Shani Blumenreich; Bethan J Jenkins; Or B Barav; Ivan Milenkovic; Anthony H Futerman

doi:10.1002/mds.28232

The Lysosome and Nonmotor Symptoms: Linking Parkinson's Disease and Lysosomal Storage Disorders

Shani Blumenreich, Bethan J Jenkins, Or B Barav, Ivan Milenkovic, Anthony H Futerman

Department of Biomolecular Sciences

Weizmann Institute of Science

Research output: Contribution to journal › Article › peer-review

Abstract

Homozygous mutations in GBA1 cause the most common lysosomal storage disease (LSD), namely, Gaucher disease (GD). Mutations (homozygous or heterozygous) in GBA1 are also the highest genetic risk factor for Parkinson's disease (PD),1 although the mechanistic basis for this relationship is not known. We now suggest, based on well‐documented data in some cases and on more anecdotal data in others, that there is a resemblance in some nonmotor symptoms (NMSs) between PD and LSDs. This may indicate that brain regions associated with NMSs are more vulnerable to changes in lysosomal activity and α‐synuclein deposition as a result of lysosomal dysfunction.

Original language	English
Pages (from-to)	2150-2155
Number of pages	6
Journal	Movement Disorders
Volume	35
Issue number	12
Early online date	28 Sep 2020
DOIs	https://doi.org/10.1002/mds.28232
State	Published - Dec 2020

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

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10.1002/mds.28232

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title = "The Lysosome and Nonmotor Symptoms: Linking Parkinson's Disease and Lysosomal Storage Disorders",

abstract = "Homozygous mutations in GBA1 cause the most common lysosomal storage disease (LSD), namely, Gaucher disease (GD). Mutations (homozygous or heterozygous) in GBA1 are also the highest genetic risk factor for Parkinson's disease (PD),1 although the mechanistic basis for this relationship is not known. We now suggest, based on well‐documented data in some cases and on more anecdotal data in others, that there is a resemblance in some nonmotor symptoms (NMSs) between PD and LSDs. This may indicate that brain regions associated with NMSs are more vulnerable to changes in lysosomal activity and α‐synuclein deposition as a result of lysosomal dysfunction.",

author = "Shani Blumenreich and Jenkins, {Bethan J} and Barav, {Or B} and Ivan Milenkovic and Futerman, {Anthony H}",

note = "All 5 authors contributed to the literature search, the writing, and the review of the manuscript. Relevant conflicts of interest/financial disclosures: : Work in the Futerman laboratory on Parkinson's disease is supported by the Legacy Heritage Biomedical Science Partnership Program of the Israel Science Foundation (grant 2240/17), by the Rolf Wiklund and Alice Wiklund Parkinson's Disease Research Fund, the Children's Gaucher Research Fund, and the Michael J. Fox Foundation. All 5 authors contributed to the literature search, the writing, and the review of the manuscript.",

year = "2020",

month = dec,

doi = "10.1002/mds.28232",

language = "الإنجليزيّة",

volume = "35",

pages = "2150--2155",

journal = "Movement Disorders",

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publisher = "John Wiley & Sons Inc.",

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AU - Blumenreich, Shani

AU - Jenkins, Bethan J

AU - Barav, Or B

AU - Milenkovic, Ivan

AU - Futerman, Anthony H

N1 - All 5 authors contributed to the literature search, the writing, and the review of the manuscript. Relevant conflicts of interest/financial disclosures: : Work in the Futerman laboratory on Parkinson's disease is supported by the Legacy Heritage Biomedical Science Partnership Program of the Israel Science Foundation (grant 2240/17), by the Rolf Wiklund and Alice Wiklund Parkinson's Disease Research Fund, the Children's Gaucher Research Fund, and the Michael J. Fox Foundation. All 5 authors contributed to the literature search, the writing, and the review of the manuscript.

PY - 2020/12

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N2 - Homozygous mutations in GBA1 cause the most common lysosomal storage disease (LSD), namely, Gaucher disease (GD). Mutations (homozygous or heterozygous) in GBA1 are also the highest genetic risk factor for Parkinson's disease (PD),1 although the mechanistic basis for this relationship is not known. We now suggest, based on well‐documented data in some cases and on more anecdotal data in others, that there is a resemblance in some nonmotor symptoms (NMSs) between PD and LSDs. This may indicate that brain regions associated with NMSs are more vulnerable to changes in lysosomal activity and α‐synuclein deposition as a result of lysosomal dysfunction.

AB - Homozygous mutations in GBA1 cause the most common lysosomal storage disease (LSD), namely, Gaucher disease (GD). Mutations (homozygous or heterozygous) in GBA1 are also the highest genetic risk factor for Parkinson's disease (PD),1 although the mechanistic basis for this relationship is not known. We now suggest, based on well‐documented data in some cases and on more anecdotal data in others, that there is a resemblance in some nonmotor symptoms (NMSs) between PD and LSDs. This may indicate that brain regions associated with NMSs are more vulnerable to changes in lysosomal activity and α‐synuclein deposition as a result of lysosomal dysfunction.

U2 - 10.1002/mds.28232

DO - 10.1002/mds.28232

M3 - مقالة

C2 - 32986899

SN - 0885-3185

VL - 35

SP - 2150

EP - 2155

JO - Movement Disorders

JF - Movement Disorders

IS - 12

ER -

The Lysosome and Nonmotor Symptoms: Linking Parkinson's Disease and Lysosomal Storage Disorders

Abstract

All Science Journal Classification (ASJC) codes

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