Hélio A.G. Teive

TL;DR: Patients with mutations had significantly earlier and more symmetrical onset, dystonia more often at onset and hyperreflexia, slower progression of the disease, and a tendency toward a greater response to levodopa despite lower doses.

TL;DR: It is shown that parkin mutations account for at least 15% of early-onset cases without family history, but that the proportion decreases significantly with increasing age at onset, and a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related-disease.

TL;DR: The phenotype of mutations in the PRRT2 gene is expanded to include the frequent occurrence of migraine and HM with PKD/IC, and the association of mutations with EA and HM and with familial HM alone is extended.

TL;DR: The results suggest that the expanded AUUCU–repeat in the intronic RNA undergoes normal transcription and splicing, but causes apoptosis via an activation cascade involving a loss of hnRNP K activities, massive translocation of PKCδ to mitochondria, and caspase 3 activation.

TL;DR: Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado‐Joseph disease.