German Center for Neurodegenerative Diseases

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...

CX3CR1 Modulates Migration of Resident Microglia Towards Cortical Laser‐Induced Lesions

Microglia are innate immune cells of the central nervous system (CNS). They extend their processes and migrate toward injuries in vivo. However, how the fractalkine receptor (CX3CR1) influences microglial migration remains unknown. Label-free proteomic profiling predicted changes...

PLCG2 downregulation impairs synaptic function and increases Alzheimer’s disease hallmarks in neuronal cultures

We developed a high-content screening to investigate how Alzheimer’s disease (AD) genetic risk factors may affect synaptic mechanisms in rat primary neuronal cultures. Of the target genes identified, we found that Plcg2 downregulation in mouse dentate gyrus neurons consistently d...

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...

Identification and phenotypic profiling of subgroups with distinct cognitive aging trajectories

Cognitive aging is shaped by genetic variation, environmental factors, and health-related conditions. Until now, it is largely unclear why some individuals maintain their cognitive function, and others show progressive cognitive decline. This study uncovered determinants of disti...

Depressive symptoms in amyotrophic lateral sclerosis: associations with quality of life, disease progression and perceived social support—a German multicenter study

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a rapidly progressive, fatal neurodegenerative disease. Patients with ALS are at increased risk of developing depressive symptoms. A clearer understanding of the associations between depressive symptoms, disease progression, heal...