Transcranial sonography findings in spinocerebellar ataxia type 3 (Machado–Joseph disease): A cross-sectional study

Few studies on transcranial brain sonography have been performed in hereditary and non-hereditary ataxias. The objective of the present study was to report transcranial brain sonography findings in a sample of clinically and molecularly proven Machado–Joseph disease patients and to compare these data against those of an age- and gender-matched control group. A cross-sectional study on transcranial brain sonography was conducted in 30 Machado–Joseph disease patients. Transcranial brain sonography was performed by an experienced sonographer blinded to the clinical, genetic, and neuroimaging data. The results were compared with those of a control group of 44 healthy subjects matched for age and gender. The sonographic findings were also correlated with clinical features and genetic data in Machado–Joseph disease group. A significantly higher frequency of substantia nigra and lenticular nucleus hyperechogenicity was found in the Machado–Joseph disease group compared to an age- and gender-matched healthy control group (p < 0.001). The substantia nigra echogenic area proved to be the best predictor for differentiating cases from controls. Third and lateral ventricles were significantly larger in the Machado–Joseph disease patients than in the control subjects. No significant correlations were found between transcranial brain sonography findings and Machado–Joseph disease demographic/clinical data. Transcranial brain sonography findings in Machado–Joseph disease patients differed significantly to those in age- and gender-matched controls. Substantia nigra hyperechogenicity occurred frequently in Machado–Joseph disease patients and was found to be the best predictor for differentiating cases from controls. Additionally, this data describes the occurrence of brain atrophy in Machado–Joseph disease group.

► We performed transcranial brain sonography in spinocerebellar ataxia type 3 (SCA3) patients.
► We found a higher frequency of substantia nigra and lenticular nucleus hyperechogenicity in SCA3.
► Third and lateral ventricles were larger in the SCA3 patients than in the control subjects.
► We concluded that substantia nigra hyperechogenicity occurred frequently in SCA3.