title: Transcranial sonography findings in spinocerebellar ataxia type 3 (Machado-Joseph disease): a cross-sectional study.
abstract: 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.
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: zeluizpedroso@yahoo.com.br.
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.affiliation: Division of Neurological Surgery, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Edson
authors.initials: E
authors.lastname: Bor-Seng-Shu
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Andre Carvalho
authors.initials: AC
authors.lastname: Felício
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Pedro
authors.initials: P
authors.lastname: Braga-Neto
authors.affiliation: Division of Neurological Surgery, Universidade de São Paulo, São Paulo, Brazil.
authors.forename: Manoel Jacobsen
authors.initials: MJ
authors.lastname: Teixeira
authors.affiliation: Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Orlando Graziani
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000328:Adult; D017668:Age of Onset; D019412:Anatomy, Cross-Sectional; D002552:Cerebral Ventricles / Q000000981:diagnostic imaging; D003342:Corpus Striatum / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D017827:Machado-Joseph Disease / Q000000981:diagnostic imaging* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012372:ROC Curve; D013378:Substantia Nigra / Q000000981:diagnostic imaging; D017585:Ultrasonography, Doppler, Transcranial