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Cognitive impairment in neurodegenerative diseases: A trans-diagnostic approach...
Morais, Ricardo Félix; Pires, Ricardo; Jesus, Tiago; Baptista de Lemos Guerra de Oliveira, Raquel Maria; Duro, Diana; Lima, Marisa; Baldeiras, InêsIntroduction: Neurodegenerative disorders, such as Alzheimer’s disease (AD) and frontotemporal dementia (bvFTD), reflect a spectrum of cognitive impairments unified by cognitive decline. Traditional diagnostic approaches often overlook shared landscapes of these disorders. A transdiagnostic approach, cutting across conventional boundaries, may improve understanding of shared mechanisms. This study uses lesion-s...
Depressive symptoms and amyloid pathology
Wiels, Wietse A.; Oomens, Julie E.; Engelborghs, Sebastiaan; Baeken, Chris; von Arnim, Christine A.F.; Boada, Mercè; Didic, Mira; Dubois, BrunoImportance: Depressive symptoms are associated with cognitive decline in older individuals. Uncertainty about underlying mechanisms hampers diagnostic and therapeutic efforts. This large-scale study aimed to elucidate the association between depressive symptoms and amyloid pathology. Objective: To examine the association between depressive symptoms and amyloid pathology and its dependency on age, sex, education...
Exploring first-degree family history in a cohort of Portuguese Alzheimer’s dis...
Tábuas-Pereira, Miguel; Bernardes, Catarina; Durães, João; Lima, Marisa; Nogueira, Ana Rita; Saraiva, Jorge; Tábuas, Teresa; Coelho, MarianaAlzheimer’s disease (AD) heritability is estimated to be around 70–80%. Yet, much of it remains to be explained. Studying transmission patterns may help in understanding other factors contributing to the development of AD. In this study, we aimed to search for evidence of autosomal recessive or X- and Y-linked inheritance of risk factors in a large cohort of Portuguese AD patients. We collected family history f...
Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic...
Genetic FTD Initiative (GENFI); Samra, Kiran; Peakman, Georgia; MacDougall, Amy M.; Bouzigues, Arabella; Greaves, Caroline V.; Convery, Rhian S.INTRODUCTION: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD). METHODS: Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in...
Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dement...
The Genetic Frontotemporal Dementia Initiative (GENFI); Pasternak, Maurice; Mirza, Saira S.; Luciw, Nicholas; Mutsaerts, Henri J. M. M.; Petr, JanINTRODUCTION: Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers. METHODS: We investigated longitudinal profiles of cerebral perfusion using arterial spin labeling magnetic resonance imaging in 4...
Autologous Hematopoietic Stem Cell Transplantation in the Treatment of Multiple...
Gonçalves, Maria Francisca; Nunes, Carla; Santana, Isabel; Correia, InêsAutologous hematopoietic stem cell transplantation (AHSCT) has been gaining prominence over the last 20 years in the context of autoimmune diseases, particularly multiple sclerosis. This procedure allows the eradication of the autoreactive immune system and its subsequent reconstitution from hematopoietic stem cells, constituting a process of “immune reinitiation” by diversifying the T-cell repertoire and resto...
Epigenetic Analysis of Long-term Epilepsy-Associated Tumors by Methylation-Spec...
Jesus-Ribeiro, Joana; Ribeiro, Ilda Patrícia; Pires, Luis Miguel; Rebelo, Olinda; Pereira, Ricardo; Bento, Conceição; Sales, Francisco; Santana, IsabelIntroduction: Ganglioglioma and dysembryoplastic neuroepithelial tumor represent the most common neoplasms in the group of long-term epilepsy-associated tumors. Mapping of epigenetic alterations, particularly DNA methylation, has recently been shown to offer promising perspectives in brain tumors, identifying key genes that may serve as potential diagnostic biomarkers. We aim to perform a genetic and epigenetic...
Post-COVID-19 Myelitis Manifesting as Partial Brown-Séquard Syndrome
Silva, Cristiana; Lima, Ana Cláudia; Santana, Isabel; Batista, SoniaMyelitis is a rare neurological complication of COVID-19. We will describe a patient with post-COVID-19 myelitis manifesting as partial Brown-Séquard syndrome. A 33-year-old male presented with progressive weakness of the lower limbs, evolving over the previous week. Six weeks before, the patient had had COVID-19, from which he had already recovered. Neurological examination revealed right lower limb weakness a...
Temporal dynamics predict symptom onset and cognitive decline in familial front...
Whiteside, David J.; Malpetti, Maura; Jones, P Simon; Ghosh, Boyd C. P.; Coyle-Gilchrist, Ian; van Swieten, John C.; Seelaar, Harro; Jiskoot, LizeIntroduction: We tested whether changes in functional networks predict cognitive decline and conversion from the presymptomatic prodrome to symptomatic disease in familial frontotemporal dementia (FTD). Methods: For hypothesis generation, 36 participants with behavioral variant FTD (bvFTD) and 34 controls were recruited from one site. For hypothesis testing, we studied 198 symptomatic FTD mutation carriers, 341...
Resective Epilepsy Surgery and Respective Histopathological Diagnoses: A Retros...
Jesus-Ribeiro, Joana; Rebelo, Olinda; Bento, Conceição; Pereira, Cristina Maria Gonçalves; Robalo, Conceição; Rito, Manuel; Pereira, RicardoIntroduction: Over recent decades, brain resection for drug-resistant epilepsy has proven to be a valuable treatment option. The histopathological classification was of paramount value for patient management. The aims of this study were to characterize our resective epilepsy surgical series including the histopathological diagnoses and to understand the differences in clinical practice between two different per...