Abstract
Machado Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disease. Mentalizing is the ability to think and understand the mental state of the other and of the self in terms of thoughts, feelings, and intentions. The aim of this study is to fill the gap in our understanding of mentalizing in MJD since there is currently very little and inconsistent research on MJD and mentalizing. A total of 18 Jews of Yemenite origin with clinically and genetically confirmed MJD, 5 pre-symptomatic MJD with a positive genetic test, and 17 Jews of Yemenite origin healthy controls, underwent a battery of tests consisting of reading the mind in the eyes (RME), Toronto Alexithymia Scale (TAS-20), and false belief test (FBt). The MJD group scored lower on the RME and FBt, and higher on TAS-20 test compared to control. A significant negative correlation was found between disease duration and RME score. All the pre-symptomatic participants scored within the normal clinical range in all tests. MJD patients demonstrated a widespread deficiency in the ability to mentalizing on a clinical level with autistic characteristics. These impairments may impact the patient’s interpsychic experience and daily life interactions and have important clinical implication. Pre-symptomatic participants demonstrated normal mentalizing in all tests, suggesting that the mentalizing impairments do not precede the symptoms of ataxia and are part of the clinical picture of MJD.
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Acknowledgements
The authors thank the patients and families that participated in the study.
Funding
This work was supported by the Israeli Chief Scientist Office, Ministry of Health (CSO MOH, IL) within the framework of the European-Latin America Consortium (EU-LAC) Health Joint Fund (grant # 3-000-14307). There is no further involvement of the funding body in this study. The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
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Zohar Elyoseph: conception and design of the study, acquisition and analysis of data, drafting a significant portion of the manuscript and figures. Dario Geisinger: conception and design of the study, drafting a significant portion of the manuscript. Roy Zaltzman: conception and design of the study, acquisition and analysis of data, drafting a significant portion of the manuscript. Erez Nave-Aival: conception and design of the study, drafting a significant portion of the manuscript. Carlos R. Gordon: conception and design of the study, acquisition, and analysis of data, drafting a significant portion of the manuscript.
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The protocol of the study was approved by the Ethics Committee (Institutional Review Board) of the Meir Medical Center, Kfar-Saba, Israel, and followed the tenets of the Declaration of Helsinki.
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Elyoseph, Z., Geisinger, D., Nave-Aival, E. et al. “I Do Not Know How You Feel and How I Feel About That”: Mentalizing Impairments in Machado-Joseph Disease. Cerebellum (2023). https://doi.org/10.1007/s12311-023-01536-2
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DOI: https://doi.org/10.1007/s12311-023-01536-2