Hiroyuki Soma

TL;DR: Functionally impaired variants of COQ2 were associated with an increased risk of multiple-system atrophy in multiplex families and patients with sporadic disease, providing evidence of a role of impaired COQ1 activities in the pathogenesis of this disease.

TL;DR: It is shown that cerebellar deficits are the main feature in Japanese patients with probable multiple system atrophy, which suggests that genetic factors may influence the clinical phenotype of MSA.

TL;DR: The results indicate that SARA is useful for the evaluation of cerebellar ataxic patients in daily examinations and that body sway analysis by stabilometry is influenced by factors other than cerebellary ataxia, such as muscle weakness, which should be taken into account when body swayed analysis is used to evaluate the severity of Cerebellar Ataxia.

TL;DR: Although the familial presence of neurodegenerative disorders is rare in MSA patients, the existence of such cases suggests that MSA may have a genetic background.

TL;DR: DT imaging may be useful for severity assessment of MSA-C, and widespread areas of FA reduction and MD elevation were observed in supra- and infratentorial white matter structures in patients with MSA.