5 documents found, page 1 of 1
Data‐driven staging of genetic frontotemporal dementia using multi‐modal MRI
McCarthy, Jillian; Borroni, Barbara; Sanchez‐Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, Caroline; Synofzik, Matthis; Galimberti, DanielaFrontotemporal dementia in genetic forms is highly heterogeneous and begins many years to prior symptom onset, complicating disease understanding and treatment development. Unifying methods to stage the disease during both the presymptomatic and symptomatic phases are needed for the development of clinical trials outcomes. Here we used the contrastive trajectory inference (cTI), an unsupervised machine learning...
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...
A modified progressive supranuclear palsy rating scale
Grötsch, Marie‐Therese; Respondek, Gesine; Colosimo, Carlo; Compta, Yaroslau; Corvol, Jean Christophe; Ferreira, Joaquim J; Huber, Meret KoroniBackground: The Progressive Supranuclear Palsy Rating Scale is a prospectively validated physician-rated measure of disease severity for progressive supranuclear palsy. We hypothesized that, according to experts' opinion, individual scores of items would differ in relevance for patients' quality of life, functionality in daily living, and mortality. Thus, changes in the score may not equate to clinically meanin...
Stratifying the presymptomatic phase of genetic frontotemporal dementia by Seru...
Wilke, Carlo; Reich, Selina; Swieten, John C.; Borroni, Barbara; Sanchez‐Valle, Raquel; Moreno, Fermin; Laforce, Robert; Graff, CarolineObjective: Although the presymptomatic stages of frontotemporal dementia (FTD) provide a unique chance to delay or even prevent neurodegeneration by early intervention, they remain poorly defined. Leveraging a large multicenter cohort of genetic FTD mutation carriers, we provide a biomarker-based stratification and biomarker cascade of the likely most treatment-relevant stage within the presymptomatic phase: th...
Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive dec...
Malpetti, Maura; Jones, P. Simon; Tsvetanov, Kamen A.; Rittman, Timothy; Swieten, John C.; Borroni, Barbara; Sanchez‐Valle, Raquel; Moreno, FerminIntroduction: Apathy adversely affects prognosis and survival of patients with frontotemporal dementia (FTD). We test whether apathy develops in presymptomatic genetic FTD, and is associated with cognitive decline and brain atrophy. Methods: Presymptomatic carriers of MAPT, GRN or C9orf72 mutations (N = 304), and relatives without mutations (N = 296) underwent clinical assessments and MRI at baseline, and annua...