Paola Soliveri

TL;DR: A novel measure of disease progression and a genome-wide significant signal on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2 is generated, suggesting this mechanism as an area for future therapeutic investigation.

TL;DR: It is proposed that the C7472 insertion-mutation is pathogenic, and etiologically related to hearing loss and other symptoms that define a novel maternally-inherited clinical entity.

TL;DR: Idiopathic Parkinson disease is a natural model of impaired hypothalamic-pituitary-adrenal axis activity and generalized sympathetic denervation, suggesting that autonomic hyperactivity may be involved in the pathogenesis of vascular disorders.

TL;DR: Cognitive examination showed that ideomotor apraxia (De Renzi’s test) was significantly more frequent in CBD, and executive functions were significantly more impaired in patients with PSP, and MRI findings of asymmetric frontoparietal atrophy and midbrain atrophy are the most consistent and useful aids to careful clinical evaluation for differentiating between the two diseases.

TL;DR: The observation of common clinical features in association with defects in different causative genes, suggest a general vulnerability of the corticospinal tract axons to a wide spectrum of cellular alterations.