Next Article in Journal
Missed Diagnosis of Major Depressive Disorder with Catatonia Features
Next Article in Special Issue
The Role of Movement Analysis in Diagnosing and Monitoring Neurodegenerative Conditions: Insights from Gait and Postural Control
Previous Article in Journal
Race, Depression, and Financial Distress in a Nationally Representative Sample of American Adults
Previous Article in Special Issue
The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives
Article Menu
Issue 2 (February) cover image

Export Article

Open AccessReview

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency

Department of Neurology, Parkinson’s Disease and Movement Disorders Section, Institute of Neuroscience of Buenos Aires (INEBA), Guardia Vieja 4435, Buenos Aires C1192AAW, Argentina
Hospital de Niños Ricardo Gutiérrez, Gallo 1330, Buenos Aires C1425EFD, Argentina
Author to whom correspondence should be addressed.
Brain Sci. 2019, 9(2), 30;
Received: 2 January 2019 / Revised: 25 January 2019 / Accepted: 30 January 2019 / Published: 1 February 2019
PDF [544 KB, uploaded 16 February 2019]
  |     |  


In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson’s disease (PD) or frontotemporal dementia. Epidemiological studies helped promote research in the field that continues to improve our understanding of the link between mutations in the glucocerebrosidase (GBA) gene and PD. We conducted a review of this link, highlighting the association in GBA mutation carriers and in Gaucher disease type 1 patients (GD type 1). A comprehensive review of the literature from January 2008 to December 2018 was undertaken. Relevance findings include: (1) There is a bidirectional interaction between GBA and α- synuclein in protein homeostasis regulatory pathways involving the clearance of aggregated proteins. (2) The link between GBA deficiency and PD appears not to be restricted to α–synuclein aggregates but also involves Parkin and PINK1 mutations. (3) Other factors help explain this association, including early and later endosomes and the lysosomal-associated membrane protein 2A (LAMP-2A) involved in the chaperone-mediated autophagy (CMA). (4) The best knowledge allows researchers to explore new therapeutic pathways alongside substrate reduction or enzyme replacement therapies. View Full-Text
Keywords: glucocerebrosidase; Parkinson’s disease; Gaucher disease glucocerebrosidase; Parkinson’s disease; Gaucher disease

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Share & Cite This Article

MDPI and ACS Style

Gatto, E.M.; Da Prat, G.; Etcheverry, J.L.; Drelichman, G.; Cesarini, M. Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency. Brain Sci. 2019, 9, 30.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Brain Sci. EISSN 2076-3425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top