Objective: To describe and compare the vestibular findings most evident among the hereditary ataxia, as well as correlate their clinical aspects to the study of the nervous structures affected in this disease.

Background: Hereditary ataxias (HA) are a heterogeneous group of neurodegenerative diseases that are characterized by the presence of progressive cerebellar ataxia and have initial clinical manifestations such as deterioration of balance and coordination, as well as ocular disorders. Based on genetic inheritance, ataxias can be divided into: a) autosomal recessive cerebellar ataxias (ARCA); b) autosomal dominant cerebellar ataxias, or dominant spinocerebellar ataxias (DSCAs); c) X-linked hereditary ataxia (related to the X chromosome); and d) mitochondrial ataxias and e) sporadic ataxias. It is known that the gene product derived from the mutation is a protein defined as ataxin in dominant SCAs and Frataxin in recessive SCAs of the Friedreich type, in which increased glutamine levels lead to specific neuronal degeneration.

Methods: 79 patients were evaluated and underwent the following procedures: case history, otolaryngologic and vestibular assessment.

Results: Clinically, the patients commonly had symptoms of gait disturbances (67.1%), dizziness (47.3%), dysarthria (46%) and dysphagia (36.8%). In vestibular testing, alterations were predominantly evident in caloric testing (79%), dismetric saccades (51%) and rotational chair testing (47%). The presence of alterations occurred in 87% of these patients. A majority of the alterations were from central vestibular dysfunction (69.3%).

Conclusions: The most evident neurotological symptoms found in this group of patients with HA were gait disturbances, dizziness, dysarthria and dysphagia. Alterations in vestibular examinations occurred in 87% of patients, mostly in the caloric test 79%, with a predominance of deficit central vestibular system dysfunction 70%. This underscores the importance of the contribution of topodiagnostic labyrinthine evaluations for neurodegenerative diseases since, in most cases, the initial symptoms are otoneurological and these evaluations should also be included in the selection of procedures to be performed in clinical and therapeutic monitoring.

References: None

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MDS Abstracts - https://www.mdsabstracts.org/abstract/evaluation-of-balance-in-hereditary-ataxias/