Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2 .

Natalia OgonowskiHernando Santamaria-GarciaSandra BaezAndrea LopezAndrés LasernaElkin Garcia-CifuentesPaola Ayala-RamirezIgnacio ZaranteFernando Suárez-ObandoPablo ReyesMarcelo KauffmanNick CochranMichael SchulteDaniel W SirkisSalvatore SpinaJennifer S YokoyamaBruce L MillerKenneth S KosikDiana MatallanaAgustin M Ibanez

Published in: Journal of medical genetics (2023)

gene expression in crucial brain regions including frontal, temporal, thalamic and basal ganglia areas. These results provide the first report of an FTD presentation potentially associated with the p.H157Y variant with exacerbated neurocognitive impairments.

Keyphrases

gene expression
resting state
functional connectivity
case report
dna methylation
early onset
white matter
deep brain stimulation
working memory
bipolar disorder
multiple sclerosis
cerebral ischemia
brain injury