Wang Zheng Chiu

TL;DR: Two independent variants in MAPT affecting risk for PSP are confirmed, one of which influences MAPT brain expression and the genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface and for a myelin structural component.

TL;DR: The existence of this pathological subtype can be predicted with reasonable certainty by age at onset ≤40 years, negative family history, bvFTD and caudate atrophy on MRI, and the newly identified FTLD-FUS has a frequency of 11% inFTLD-U and an estimated frequency of three percent in the clinical FTD cohort.

TL;DR: It is suggested that the NINDS‐SPSP probable criteria might be preferred for recruitment of patients for clinical trials, where an early and specific diagnosis is important, and for routine clinical care, where high sensitivity is crucial, a combination of NIN DS possible and probable criteria may be preferred.

TL;DR: Survival of PSP patients is shorter than that of FTD patients, and probably reflects a more aggressive disease process in PSP.

TL;DR: A family with a novel late-onset neurodegenerative disorder presenting with dementia and/or parkinsonism in 12 affected individuals is described and an altered protein kinase A function is suggested through a reduced binding of the regulatory subunit to the A-kinase anchoring protein and the catalytic subunit of protein Kinase A, which might result in subcellular dislocalization of the catalyic subunit and hyperphosphorylation of intermediate filaments.