Matthis Synofzik
University of Tübingen
Publications 272
#1Katrina M. Moore (UCL Institute of Neurology)H-Index: 1
#2Rhian S. Convery (UCL Institute of Neurology)H-Index: 2
Last.John C. van Swieten (EUR: Erasmus University Rotterdam)H-Index: 53
view all 38 authors...
AbstractImpaired semantic knowledge is a characteristic feature of some forms of frontotemporal dementia (FTD), particularly the sporadic disorder semantic dementia. Less is known about semantic co...
#1Claudia StendelH-Index: 14
Last.Thomas KlopstockH-Index: 55
view all 23 authors...
Objective To delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort. Methods We analyzed in detail the clinical, genetical, and neuroimaging data from 132 mutation carriers from national registries and local databases from Europe, USA, Japan, and China. Results We identified 113 clinically affected and 19 asymptomatic individuals with a known pathogenic MT-ATP6 mutation. The most frequent mutations were m.8993 T > G (53/132,...
1 CitationsSource
#1Katrina M. Moore (UCL: University College London)H-Index: 1
#2Jennifer M. Nicholas (Lond: University of London)H-Index: 20
Last.Daniel H. GeschwindH-Index: 129
view all 171 authors...
Summary Background Frontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, we aimed to complement previous phenotypic studies by doing an international study of age at symptom onset, age at death, and disease duration in individuals with mutations in GRN, MAPT, and C9orf72. Methods In this international, retrospective cohort study, we col...
#1Carolin Heller (UCL: University College London)H-Index: 3
#2Carolin Heller (UCL: University College London)
Last.Jonathan D. RohrerH-Index: 50
view all 38 authors...
Background There are few validated fluid biomarkers in frontotemporal dementia (FTD). Glial fibrillary acidic protein (GFAP) is a measure of astrogliosis, a known pathological process of FTD, but has yet to be explored as potential biomarker. Methods Plasma GFAP and neurofilament light chain (NfL) concentration were measured in 469 individuals enrolled in the Genetic FTD Initiative: 114 C9orf72 expansion carriers (74 presymptomatic, 40 symptomatic), 119 GRN mutation carriers (88 presymptomatic, ...
#1Tommaso Ballarini (MPG: Max Planck Society)H-Index: 3
#2Franziska Albrecht (MPG: Max Planck Society)H-Index: 2
Last.Matthias L. Schroeter (MPG: Max Planck Society)H-Index: 38
view all 14 authors...
Abstract Objective The clinical diagnosis of corticobasal syndrome (CBS) represents a challenge for physicians and reliable diagnostic imaging biomarkers would support the diagnostic work-up. We aimed to investigate the neural signatures of CBS using multimodal T1-weighted and resting-state functional magnetic resonance imaging (MRI). Methods Nineteen patients with CBS (age 67.0±6.0 years; mean±SD) and 19 matched controls (66.5±6.0) were enrolled from the German Frontotemporal Lobar Degeneration...
#1Ana Laura Manera (Montreal Neurological Institute and Hospital)H-Index: 1
#2Mahsa Dadar (Montreal Neurological Institute and Hospital)H-Index: 10
view all 31 authors...
INTRODUCTION: Brain structural imaging is paramount for the diagnosis of behavioral variant of frontotemporal dementia (bvFTD), but it has low sensitivity leading to erroneous or late diagnosis. METHODS: A total of 515 subjects from two different bvFTD databases (training and validation cohorts) were included to perform voxel-wise deformation-based morphometry analysis to identify regions with significant differences between bvFTD and controls. A random forest classifier was used to individually...
#1Andre Altmann (UCL: University College London)H-Index: 21
#2David M. Cash (UCL: University College London)H-Index: 26
Last.Jonathan D. Rohrer (UCL: University College London)H-Index: 50
view all 35 authors...
Frontotemporal dementia (FTD) is a heterogeneous neurodegenerative disorder characterized by neuronal loss in the frontal and temporal lobes. Despite progress in understanding which genes are associated with the aetiology of FTD (C9orf72, GRN and MAPT), the biological basis of how mutations in these genes lead to cell loss in specific cortical regions remains unclear. In this work we combined gene expression data for 16,912 genes from the Allen Institute for Brain Science atlas with brain maps o...
#1Laura RinaldiH-Index: 38
Last.Antonio FelicielloH-Index: 22
view all 19 authors...
Activation of G-protein coupled receptors elevates cAMP levels promoting dissociation of protein kinase A (PKA) holoenzymes and release of catalytic subunits (PKAc). This results in PKAc-mediated phosphorylation of compartmentalized substrates that control central aspects of cell physiology. The mechanism of PKAc activation and signaling have been largely characterized. However, the modes of PKAc inactivation by regulated proteolysis were unknown. Here, we identify a regulatory mechanism that pr...
1 CitationsSource
#1Emma L. van der Ende (EUR: Erasmus University Rotterdam)H-Index: 4
#2Lieke H.H. Meeter (EUR: Erasmus University Rotterdam)H-Index: 8
Last.John C. van Swieten (EUR: Erasmus University Rotterdam)H-Index: 53
view all 43 authors...
Summary Background Neurofilament light chain (NfL) is a promising blood biomarker in genetic frontotemporal dementia, with elevated concentrations in symptomatic carriers of mutations in GRN, C9orf72, and MAPT. A better understanding of NfL dynamics is essential for upcoming therapeutic trials. We aimed to study longitudinal NfL trajectories in people with presymptomatic and symptomatic genetic frontotemporal dementia. Methods We recruited participants from 14 centres collaborating in the Geneti...
2 CitationsSource
#1Katja Kloth (UHH: University of Hamburg)H-Index: 3
#2Matthis Synofzik (University of Tübingen)H-Index: 37
Last.Nicole Weisschuh (University of Tübingen)H-Index: 22
view all 8 authors...
Background Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A variants are from affected individuals of Maghrebian origin, who all carry an identical nonsense variant. Here we report two novel variants in the TMEM126A gene from non-Maghreb individuals, both found in affected individuals with an arOA phenotype.