Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion

IMPORTANCE: During a time with the potential for novel treatment strategies, early detection of disease manifestations at an individual level in presymptomatic carriers of a hexanucleotide repeat expansion in the C9orf72 gene (preSxC9) is becoming increasingly relevant. OBJECTIVES: To evaluate chang...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Archives of neurology (Chicago) 2020-08, Vol.77 (8), p.1008-1017
Hauptverfasser:	De Vocht, Joke, Blommaert, Jeroen, Devrome, Martijn, Radwan, Ahmed, Van Weehaeghe, Donatienne, De Schaepdryver, Maxim, Ceccarini, Jenny, Rezaei, Ahmadreza, Schramm, Georg, van Aalst, June, Chiò, Adriano, Pagani, Marco, Stam, Daphne, Van Esch, Hilde, Lamaire, Nikita, Verhaegen, Marianne, Mertens, Nathalie, Poesen, Koen, van den Berg, Leonard H, van Es, Michael A, Vandenberghe, Rik, Vandenbulcke, Mathieu, Van den Stock, Jan, Koole, Michel, Dupont, Patrick, Van Laere, Koen, Van Damme, Philip
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Adult Aged Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - diagnosis Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - metabolism Amyotrophic Lateral Sclerosis - pathology Basal ganglia Biomarkers Brain mapping C9orf72 Protein - genetics Case-Control Studies Cerebral Cortex - diagnostic imaging Cerebral Cortex - metabolism Cerebral Cortex - pathology Cognitive ability Comments Cortex (frontal) Cortex (insular) Cortex (parietal) Dementia disorders DNA Repeat Expansion Error correction Female Fluorine Fluorine isotopes Fluorodeoxyglucose F18 Frontal gyrus Frontotemporal dementia Frontotemporal Dementia - diagnosis Frontotemporal Dementia - genetics Frontotemporal Dementia - metabolism Frontotemporal Dementia - pathology Ganglia Gene mapping Glucose Glucose metabolism Heterozygote Humans Hypometabolism Magnetic Resonance Imaging Male Medical imaging Medical treatment Metabolism Middle Aged Multimodal Imaging Mutation Neuroimaging Online First Original Investigation Positron emission Positron emission tomography Positron-Emission Tomography - standards Precentral gyrus Prodromal Symptoms Prospective Studies Signs and symptoms Tomography
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	IMPORTANCE: During a time with the potential for novel treatment strategies, early detection of disease manifestations at an individual level in presymptomatic carriers of a hexanucleotide repeat expansion in the C9orf72 gene (preSxC9) is becoming increasingly relevant. OBJECTIVES: To evaluate changes in glucose metabolism before symptom onset of amyotrophic lateral sclerosis or frontotemporal dementia in preSxC9 using simultaneous fluorine 18–labeled fluorodeoxyglucose ([18F]FDG positron emission tomographic (PET) and magnetic resonance imaging as well as the mutation’s association with clinical and fluid biomarkers. DESIGN, SETTING, AND PARTICIPANTS: A prospective, case-control study enrolled 46 participants from November 30, 2015, until December 11, 2018. The study was conducted at the neuromuscular reference center of the University Hospitals Leuven, Leuven, Belgium. MAIN OUTCOMES AND MEASURES: Neuroimaging data were spatially normalized and analyzed at the voxel level at a height threshold of P
ISSN:	2168-6149 2168-6157
DOI:	10.1001/jamaneurol.2020.1087