Marco Guidi

TL;DR: PINK1 homozygous mutations are a relevant cause of disease among Italian sporadic patients with early-onset parkinsonism, and this study suggests that, at least in some patients, these mutations are disease causing, in combination with additional, still unknown factors.

TL;DR: It is concluded that pathogenic LRRK2 mutations are frequent in ADPD, and they cluster in the C-terminal half of the encoded protein, with implications both for understanding the molecular mechanisms of PD, and for directing the genetic screening in clinical practice.

TL;DR: The distribution in age at onset and clinical features in LRRK2 p.R1441C patients are similar to idiopathic and Lrrk 2 p.G2019S parkinsonism, and several independent founders of the p.

TL;DR: The patients with parkin mutations showed significantly earlier onset, longer disease duration, more frequently symmetric onset, and slower disease progression than the patients without mutations, in agreement with previous studies.

TL;DR: Multiplications of the SNCA gene that encodes alpha‐synuclein are a rare cause of autosomal dominant Parkinson's disease (PD).