White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort.

NeuroImage. Clinical
Carole H SudreGenetic FTD Initiative, GENFI

Abstract

Genetic frontotemporal dementia is most commonly caused by mutations in the progranulin (GRN), microtubule-associated protein tau (MAPT) and chromosome 9 open reading frame 72 (C9orf72) genes. Previous small studies have reported the presence of cerebral white matter hyperintensities (WMH) in genetic FTD but this has not been systematically studied across the different mutations. In this study WMH were assessed in 180 participants from the Genetic FTD Initiative (GENFI) with 3D T1- and T2-weighed magnetic resonance images: 43 symptomatic (7 GRN, 13 MAPT and 23 C9orf72), 61 presymptomatic mutation carriers (25 GRN, 8 MAPT and 28 C9orf72) and 76 mutation negative non-carrier family members. An automatic detection and quantification algorithm was developed for determining load, location and appearance of WMH. Significant differences were seen only in the symptomatic GRN group compared with the other groups with no differences in the MAPT or C9orf72 groups: increased global load of WMH was seen, with WMH located in the frontal and occipital lobes more so than the parietal lobes, and nearer to the ventricles rather than juxtacortical. Although no differences were seen in the presymptomatic group as a whole, in the GRN cohort only th...Continue Reading

Citations

Jun 12, 2018·Expert Opinion on Therapeutic Targets·Daniela GalimbertiElio Scarpini
Jan 16, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Carolin HellerUNKNOWN GENFI
Dec 5, 2017·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Camilla FerrariSandro Sorbi
May 11, 2018·Current Opinion in Neurology·Massimo Filippi, Federica Agosta
Aug 12, 2020·Journal of Neuroinflammation·Ione O C WoollacottTammaryn Lashley
May 20, 2018·Nature Reviews. Neurology·Sara Van MosseveldeChristine Van Broeckhoven
May 24, 2019·Journal of Neurology·Caroline V Greaves, Jonathan D Rohrer
Oct 18, 2019·Frontiers in Neurology·Peter A LjubenkovAdam L Boxer
Jan 19, 2018·Therapeutic Advances in Psychopharmacology·Juan Joseph YoungRajesh R Tampi
Jan 29, 2019·Journal of Alzheimer's Disease : JAD·Giorgio Giulio FumagalliDaniela Galimberti
Apr 21, 2020·Journal of Alzheimer's Disease : JAD·Clara Domínguez-ViveroStephanie Cosentino
Apr 6, 2018·Nature Reviews. Neuroscience·Mark A PetersenKaterina Akassoglou
Jan 17, 2021·Journal of Neurology, Neurosurgery, and Psychiatry·Jessica L PanmanUNKNOWN GENFI consortium investigators
May 19, 2020·Cortex; a Journal Devoted to the Study of the Nervous System and Behavior·Aino Yliranta, Mervi Jehkonen
May 23, 2020·Neurobiology of Disease·Rita GuerreiroJose Bras
Mar 31, 2021·Human Brain Mapping·Mahsa DadarUNKNOWN Alzheimer's Disease Neuroimaging Initiative
Sep 6, 2020·Neurobiology of Disease·Suvi HäkkinenSuzee E Lee
Dec 15, 2019·NeuroImage. Clinical·Carole H SudreUNKNOWN On behalf of, GENFI
May 11, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Bedia SamanciMurat Emre
Dec 24, 2020·Genes·Wei-Min HoYi-Chun Chen
Jul 15, 2021·Alzheimer's Research & Therapy·Philippe DesmaraisMario Masellis
Jan 11, 2019·Dementia and Geriatric Cognitive Disorders·Courtney AlexanderClaudia Jacova

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