The vestibular symptomatology of Machado-Joseph Disease

Article type: Research Article

Authors: Elyoseph, Zohar^{a; b; c; 1} | Geisinger, Dario^{d; 1} | Zaltzman, Roy^e | Mintz, Matti^{a; f; g} | Gordon, Carlos R.^{d; e; f; *}

Affiliations: [a] School of Psychological Sciences, Tel Aviv University, Tel Aviv, Israel | [b] Department of Psychology and Educational Counseling, The Center for Psychobiological Research, Max Stern Yezreel Valley College, Jezreel Valley, Israel | [c] Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK | [d] Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel | [e] Department of Neurology, Meir Medical Center, Kfar Saba, Israel | [f] Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel | [g] Department of Psychology, Ashkelon Academic College, Ashkelon, Israel

Correspondence: [*] Corresponding author: Carlos R. Gordon, Department of Neurology, Meir Medical Center, Kfar Saba 44281, Israel. Tel.: +972 9 747 1581; Fax: +972 9 747 1317; E-mail: [email protected].

Note: [1] Equal contribution.

Abstract: BACKGROUND:Machado Joseph Disease (MJD) is an autosomal dominant neurodegenerative disease. In previous studies, we described significant bilateral horizontal Vestibulo-Ocular Reflex (VOR) deficit within this population without any reference to the presence of vestibular symptomatology. OBJECTIVE:To evaluate whether, beyond cerebellar ataxia complaints, MJD patients have typical vestibular symptomatology corresponding to the accepted diagnostic criteria of Bilateral Vestibulopathy (BVP) according to the definition of the International Barany Society of Neuro-Otology. METHODS:Twenty-one MJD, 12 clinically stable chronic Unilateral Vestibulopathy (UVP), 15 clinically stable chronic BVP, and 22 healthy Controls underwent the video Head Impulse Test (vHIT) evaluating VOR gain and filled out the following questionnaires related to vestibular symptomatology: The Dizziness Handicap Inventory (DHI), the Activities-specific Balance Confidence Scale (ABC), the Vertigo Visual Scale (VVS) and the Beck Anxiety Inventory (BAI). RESULTS:The MJD group demonstrated significant bilateral vestibular impairment with horizontal gain less than 0.6 in 71% of patients (0.54±0.17). Similar to UVP and BVP, MJD patients reported a significantly higher level of symptoms than Controls in the DHI, ABC, VVS, and BAI questionnaires. CONCLUSIONS:MJD demonstrated significant VOR impairment and clinical symptoms typical of BVP. We suggest that in a future version of the International Classification of Vestibular Disorders (ICVD), MJD should be categorized under a separate section of central vestibulopathy with the heading of bilateral vestibulopathy. The present findings are of importance regarding the clinical diagnosis process and possible treatment based on vestibular rehabilitation.

Keywords: Cerebellum, Machado-Joseph Disease, Spinocerebellar Ataxia type 3, Vestibular, Dizziness Handicap Inventory, Bilateral Vestibulopathy.

DOI: 10.3233/VES-230038

Journal: Journal of Vestibular Research, vol. 34, no. 2-3, pp. 159-167, 2024