8 documents found, page 1 of 1
Genetic forms of primary progressive aphasia within the GENetic Frontotemporal ...
Samra, Kiran; MacDougall, Amy M.; Bouzigues, Arabella; Bocchetta, Martina; Cash, David M.; Greaves, Caroline V.; Convery, Rhian S.; Hardy, ChrisPrimary progressive aphasia is most commonly a sporadic disorder, but in some cases, it can be genetic. This study aimed to understand the clinical, cognitive and imaging phenotype of the genetic forms of primary progressive aphasia in comparison to the canonical nonfluent, semantic and logopenic subtypes seen in sporadic disease. Participants with genetic primary progressive aphasia were recruited from the int...
Impairment of episodic memory in genetic frontotemporal dementia : a GENFI study
Poos, Jackie M.; Russell, Lucy L.; Peakman, Georgia; Bocchetta, Martina; Greaves, Caroline V.; Jiskoot, Lize C.; Ende, Emma L.; Seelaar, HarroIntroduction: We aimed to assess episodic memory in genetic frontotemporal dementia (FTD) with the Free and Cued Selective Reminding Test (FCSRT). Methods: The FCSRT was administered in 417 presymptomatic and symptomatic mutation carriers (181 chromosome 9 open reading frame 72 [C9orf72], 163 progranulin [GRN], and 73 microtubule-associated protein tau [MAPT]) and 290 controls. Group differences and correlation...
Social cognition impairment in genetic frontotemporal dementia within the GENFI...
Russell, Lucy L.; Greaves, Caroline V.; Bocchetta, Martina; Nicholas, Jennifer; Convery, Rhian S.; Moore, Katrina; Cash, David M.; van Swieten, JohnA key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and Faux Pas (FP) recognition tests were used to study social cognit...
Age at symptom onset and death and disease duration in genetic frontotemporal d...
Moore, Katrina M.; Nicholas, Jennifer; Grossman, Murray; McMillan, Corey T.; Irwin, David J.; Massimo, Lauren; Van Deerlin, Vivianna M.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,...
Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in...
Convery, Rhian S.; Bocchetta, Martina; Greaves, Caroline V.; Moore, Katrina M.; Cash, David M.; Van Swieten, John; Moreno, Fermin; Sánchez-Valle, RaquelObjective: Frontotemporal dementia (FTD) is typically associated with changes in behaviour, language and movement. However, recent studies have shown that patients can also develop an abnormal response to pain, either heightened or diminished. We aimed to investigate this symptom in mutation carriers within the Genetic FTD Initiative (GENFI). Methods: Abnormal responsiveness to pain was measured in 462 GENFI pa...
Social cognition impairment in genetic frontotemporal dementia within the GENFI...
Russell, Lucy L.; Greaves, Caroline V.; Bocchetta, Martina; Nicholas, Jennifer; Convery, Rhian S.; Moore, Katrina; Cash, David M.; van Swieten, JohnA key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and Faux Pas (FP) recognition tests were used to study social cognit...
Uncovering the heterogeneity and temporal complexity of neurodegenerative disea...
Young, Alexandra L.; Marinescu, Razvan V.; Oxtoby, Neil P.; Bocchetta, Martina; Yong, Keir; Firth, Nicholas C.; Cash, David M.; Thomas, David L.The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct disease trajectories. Here we introduce a machine-learning technique-Subtype and Stage Inference (SuStaIn)-able to uncover data-driven disease phenotypes with distinct temporal progression patterns, from widely available cross-se...
White matter hyperintensities are seen only in GRN mutation carriers in the GEN...
Sudre, Carole H.; Bocchetta, Martina; Cash, David; Thomas, David L.; Woollacott, Ione; Dick, Katrina M.; van Swieten, John; Borroni, BarbaraGenetic 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...