Jonathan Daniel Rohrer

The Ignite app detects early cognitive impairment and tracks disease severity in genetic frontotemporal dementia

Rhian S. Convery, Kerala Adams-Carr, Lucy Louise Russell, Amelia Blesius et autres

gb, nl, us, it, ca, es, pt, de, be, fi (code pays fourni par la source)

Trajectories of brain structure and function in young adult carriers of genetic frontotemporal dementia variants

Isis So, Jolina Lombardi, Adam M. Staffaroni, Kristy K. L. Coleman et autres

ABSTRACT Background and Objectives Converging evidence hints at neurodevelopmental effects in genetic frontotemporal degeneration (FTD). In cross-sectional studies, for some genes, young adult FTD variant carriers show differences in brain volumes and cognition compared to familial non-carriers. However, longitudinal trajectories may more …

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Evaluating MAPT p.A152T as a risk factor for the 3R tauopathy Pick’s disease

Nicole Tamvaka, William J. Scotton, Meredith T. Lilley, Maryam Shoai et autres

Abstract Genetic studies have significantly advanced our understanding of tauopathies, yet the genetic aetiology of Pick’s disease, a rare 3-Repeat tauopathy, remains unclear. The MAPT p.A152T variant has been identified as a risk factor for Alzheimer’s disease and progressive supranuclear palsy, but …

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Educational attainment and sex modulate clinical outcomes in genetic frontotemporal dementia

Enrico Premi, Damiano Archetti, Alberto Redolfi, Valeria Bracca et autres

Abstract Individuals with autosomal dominant frontotemporal dementia (FTD) exhibit considerable variability in disease onset and progression. Both modifiable and non-modifiable factors—such as sex, educational attainment or geographic region of residence—may contribute to this heterogeneity, potentially through their influence on cognitive reserve. The …

it, us, fr, gb, nl, es, ca, se, ru, be, pt, de, hk (code pays fourni par la source)

Disclosure of onset-predictive biomarker results to research participants at risk of genetic frontotemporal dementia: a European perspective

Charlotte H Graafland, Eline Maria Bunnik, Barbara Borroni, Arabella Bouzigues et autres

BACKGROUND: As understanding of biomarkers for genetic frontotemporal dementia (FTD) advances, there is a need to develop onset-predictive biomarker tests (OPBTs) to detect changes before the onset of symptoms. OPBTs can be used to recruit carriers or individuals at 50% risk of …

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Clinical recognition of frontotemporal dementia with right temporal predominance: a consensus statement from the International Working Group

Hülya Ulugut, Kyan Younes, Maxime Montembeault, Maxime Bertoux et autres

Accurate diagnosis of frontotemporal dementia (FTD) with right anterior temporal lobe (RATL) predominance remains challenging due to lack of clinical characterization, and standardized terminology. The recent research of the International Working Group (IWG) identified common symptoms but also unveiled broad terminologies lacking …

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Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration

Julie F. H. De Houwer, Elise G.P. Dopper, Renee van Buuren, Marijke E. Stokkel et autres

Fluid biomarkers to diagnose frontotemporal lobar degeneration (FTLD) are currently lacking. In this study, we aimed to identify proteomic changes in CSF associated with FTLD pathogenesis, focusing on signatures unique to different genetic groups. Additionally, we sought proteins distinguishing FTLD-spectrum disorders from …

nl, gb, es, ca, se, ru, it, us, be, pt, de, fr, hk, in (code pays fourni par la source)

Cellular signatures underlying functional resilience in presymptomatic frontotemporal dementia

Kamen A. Tsvetanov, Maura Malpetti, Peter Simon Jones, Timothy Rittman et autres

Frontotemporal dementia (FTD) shows autosomal dominant transmission in up to a third of families, enabling the study of presymptomatic and prodromal phases. Despite self-reported well-being and normal daily cognitive functioning, brain structural changes are evident a decade or more before the expected …

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Neurodevelopmental effects of genetic frontotemporal dementia mutations revealed by total intracranial volume differences

Isis So, Arabella Bouzigues, Lucy Louise Russell, Phoebe H. Foster et autres

Background Converging evidence hints at neurodevelopmental effects in people at risk of genetic frontotemporal dementia (FTD). Objective We investigated total intracranial volume (TIV), a neuroimaging marker of neurodevelopment, and years of education differences between adult mutation carriers and familial non-mutation carriers, as …

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MRI-based classifier to identify close-to-onset cases in C9orf72 genetic frontotemporal dementia

Mahdie Soltaninejad, Yasser Iturria‐Medina, Reza Rajabli, Gleb Bezgin et autres

Abstract Predicting symptom onset in genetic frontotemporal dementia (FTD) is crucial for advancing targeted interventions and clinical trial design. Brain changes begin years before clinical symptoms emerge, making neuroimaging a strong candidate for onset prediction. However, FTD is highly heterogeneous, encompassing diverse …

ca, ae, gb, nl, es, se, it, be, pt, de, fr (code pays fourni par la source)

Cross‐country variance in facial emotion recognition in presymptomatic and symptomatic behavioral variant frontotemporal dementia: Insights from the GENFI and ReDLat consortia

Liset de Boer, Lize Corrine Jiskoot, Harro Seelaar, John Cornelis Van Swieten et autres

INTRODUCTION: We investigated international differences in facial emotion recognition (FER) across stages of frontotemporal dementia (FTD). Previous studies may have missed early decline by combining data and masking variations in FER across countries. METHODS: An FER test was administered to 159 individuals …

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Functional Connectivity Associations With Markers of Disease Progression in GRN Pathogenic Variant Carriers

Taru Flagan, Stephanie A. Chu, Suvi Häkkinen, Liwen Zhang et autres

OBJECTIVE: Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN-related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression. We previously showed …

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