Anteroposterior diameter of the midbrain in spinocerebellar Ataxia type 2
Keywords:
anteroposterior diameter, midbrain, Spinocerebellar Ataxia Type 2Abstract
Introduction: Spinocerebellar Ataxia type 2 is the second most frequent molecular form, only surpassed by spinocerebellar Ataxia type 3. It is caused by the expansion of the cytosine-guanine-adenine trinucleotide, located in the first exon of the atxn2 gene (12q23-q24.1), which leads to the expression of an abnormally long polyglutamine tract in the ataxin-2 protein.
Objective: To determine the behavior of the anteroposterior diameter of the midbrain in patients diagnosed with spinocerebellar Ataxia type 2.
Methods: It was conducted a cross-sectional study in subjects carrying the gene for cerebellar Ataxia type 2, treated at the Center for Research and Rehabilitation of Hereditary Ataxias, in Holguín, in the period between February and July 2023. Cerebellar signs and symptoms were assessed using the Scale for the assessment and rating of ataxia scale. The clinical examination was performed within 30 days prior to the MRI examination.
Results: Statistical analysis demonstrated the existence of a significant correlation between the measurement of the anteroposterior diameter of the midbrain variables and the total Scale for the assessment and rating of ataxia score for the complete sample that included preclinical and sick patients (r = -0.494 and p = 0.03). However, no significant correlations were detected between the Scale for the assessment and rating of ataxia and the measurement of the anteroposterior diameter of the midbrain scores with the size of the polyglutamine expansion.
Conclusions: There are alterations in the anteroposterior diameter of the midbrain prior to the clinical manifestations of the symptomatic stage that show its atrophy, which contributes to a better understanding of the pathophysiology of neurodegeneration in spinocerebellar ataxia type 2, in addition to its usefulness as a morphological diagnosis of midbrain neurodegeneration.Downloads
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