Matthis Synofzik

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients

Background Spinocerebellar Ataxia 27B (SCA27B) is a novel, frequent and likely treatable late-onset autosomal-dominant ataxia caused by GAA repeat-expansions in FGF14 . For understanding disease evolution and imminent trial planning, metrics of the most widely used clinical outco...

Data-driven mapping of known and novel fluid biomarker progression profiles in genetic frontotemporal lobar degeneration

Abstract Introduction Recent proteomic studies have identified both established and novel proteins in genetic frontotemporal lobar degeneration (FTLD). However, it remains unclear at what point in the disease these proteins deviate from normal levels and how their trajectories re...