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JOURNAL ARTICLE
Daniele Altomare, Jasmine Rivolta, Ilenia Libri, Irene Mattioli, Valentina Cantoni, Alessandro Padovani, Barbara Borroni
BACKGROUND: Neuropsychiatric symptoms cause significant suffering and poor quality of life for patients and their caregivers. They are not considered specific to frontotemporal dementia (FTD); therefore, their clinical role and impact might be underestimated. OBJECTIVE: The aims of the present study are to: 1) describe the prevalence of neuropsychiatric symptoms in FTD starting from the prodromal stage, 2) define their association with disease severity, 3) identify symptoms which are unrelated to FTD-specific symptoms, and 4) assess their association with clinical features and outcomes...
February 13, 2024: Journal of Alzheimer's Disease: JAD
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JOURNAL ARTICLE
Rachel M Peters, Christine M Schieszler-Ockrassa, Angela Gleason, Kathleen Patterson
Objective : Behavioral variant frontotemporal dementia (bvFTD) is a neurodegenerative condition characterized by progressive changes in behavior, cognition, and day-to-day functioning. Progression of the disease usually leads to death 3-5 years after diagnosis. However, there are reports of individuals who are initially diagnosed with bvFTD but fail to progress. These individuals are thought to have what is becoming known as phenocopy bvFTD (phFTD). Methods : This manuscript reviews a single case study of a 68-year-old male Veteran who was diagnosed with bvFTD in 2010, which has not progressed over time...
February 15, 2024: Clinical Neuropsychologist
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JOURNAL ARTICLE
Shreyasee Das, Marie-Paule E van Engelen, Julie Goossens, Dirk Jacobs, Bram Bongers, Jay L P Fieldhouse, Yolande A L Pijnenburg, Charlotte E Teunissen, Eugeen Vanmechelen, Inge M W Verberk
BACKGROUND: Lack of early molecular biomarkers in sporadic behavioral variants of frontotemporal dementia (bvFTD) and its clinical overlap with primary psychiatric disorders (PPD) hampers its diagnostic distinction. Synaptic dysfunction is an early feature in bvFTD and identification of specific biomarkers might improve its diagnostic accuracy. Our goal was to understand the differential diagnostic potential of cerebrospinal fluid (CSF) synaptic biomarkers in bvFTD versus PPD and their specificity towards bvFTD compared with Alzheimer's disease (AD) and controls...
February 14, 2024: Alzheimer's Research & Therapy
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JOURNAL ARTICLE
Cierra M Keith, Marc W Haut, Pierre-François D'Haese, Rashi I Mehta, Camila Vieira Ligo Teixeira, Michelle M Coleman, Mark Miller, Melanie Ward, R Osvaldo Navia, Gary Marano, Xiaofei Wang, William T McCuddy, Katharine Lindberg, Kirk C Wilhelmsen
BACKGROUND: Alzheimer's disease (AD) and behavioral variant frontotemporal dementia (bvFTD) are typically associated with very different clinical and neuroanatomical presentations; however, there is increasing recognition of similarities. OBJECTIVE: To examine memory and executive functions, as well as cortical thickness, and glucose metabolism in AD and bvFTD signature brain regions. METHODS: We compared differences in a group of biomarker-defined participants with Alzheimer's disease and a group of clinically diagnosed participants with bvFTD...
2024: JAD Reports
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JOURNAL ARTICLE
Youde Cai, Zhongyong Peng, Qiansong He, Ping Sun
OBJECTIVE: To report the clinical manifestation and genetic characteristics of a patient having frontotemporal dementia (FTD) with abnormal behavior and unstable walking. METHODS: The clinical and imaging features of a patient who was eventually diagnosed with FTD were analyzed. The patient's neuropsychological, PET-CT, electromyography, and genetic data were collected. Furthermore, the patient's blood samples were examined for FTD-related genes. RESULTS: The patient was a 52-year-old man with hidden onset...
January 30, 2024: BMC Medical Genomics
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JOURNAL ARTICLE
Andrea Panzavolta, Chiara Cerami, Alessandra Marcone, Michele Zamboni, Sandro Iannaccone, Alessandra Dodich
BACKGROUND: Although social cognitive dysfunction is a major feature of the behavioral variant of frontotemporal dementia (bvFTD), quantitative measurement of social behavior changes is poorly available in clinical settings. OBJECTIVE: The aim of the study is to evaluate diagnostic accuracy of social-emotional questionnaires in distinguishing bvFTD from healthy control (HC) subjects and Alzheimer's disease (AD) patients. METHODS: We enrolled 29 bvFTD, 24 AD, and 18 HC subjects matched for age, sex, and education...
January 19, 2024: Journal of Alzheimer's Disease: JAD
#27
JOURNAL ARTICLE
Mengjie Huang, Ramon Landin-Romero, Sophie Matis, Marshall A Dalton, Olivier Piguet
Amygdala atrophy has been found in frontotemporal dementia (FTD), yet the specific changes of its subregions across different FTD phenotypes remain unclear. The aim of this study was to investigate the volumetric alterations of the amygdala subregions in FTD phenotypes and how they evolve with disease progression. Patients clinically diagnosed with behavioral variant FTD (bvFTD) (n = 20), semantic dementia (SD) (n = 20), primary nonfluent aphasia (PNFA) (n = 20), Alzheimer's disease (AD) (n = 20), and 20 matched healthy controls underwent whole brain structural MRI...
January 24, 2024: Journal of Neurology
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JOURNAL ARTICLE
Cristina Moglia, Andrea Calvo, Antonio Canosa, Umberto Manera, Rosario Vasta, Francesca Di Pede, Margherita Daviddi, Enrico Matteoni, Maura Brunetti, Luca Sbaiz, Sara Cabras, Salvatore Gallone, Maurizio Grassano, Laura Peotta, Francesca Palumbo, Gabriele Mora, Barbara Iazzolino, Adriano Chio
BACKGROUND AND OBJECTIVES: TARDBP patients are considered particularly prone to cognitive involvement, but no systematic studies of cognitive impairment in TARDBP patients are available. The aim of this article was to depict in depth the cognitive-behavioral characteristics of a cohort of patients with amyotrophic lateral sclerosis (ALS) carrying TARDBP pathogenetic variants followed by an ALS referral center. METHODS: We enrolled all patients with ALS seen at the Turin ALS expert center in the 2009-2021 period who underwent extensive genetic testing and a neuropsychological battery encompassing executive function, verbal memory, language, visual memory, visuoconstructive abilities, attention/working memory, psychomotor speed, nonverbal intelligence, cognitive flexibility, social cognition, and behavior...
February 27, 2024: Neurology
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JOURNAL ARTICLE
TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
Kostantin Kiianitsa, Maria E Lukes, Brian J Hayes, Julianna Brutman, Paul N Valdmanis, Thomas D Bird, Wendy H Raskind, Olena Korvatska
Loss-of-function variants in the triggering receptor expressed on myeloid cells 2 (TREM2) are responsible for a spectrum of neurodegenerative disorders. In the homozygous state, they cause severe pathologies with early onset dementia, such as Nasu-Hakola disease (NHD) and behavioral variants of frontotemporal dementia (FTD), whereas heterozygous variants increase the risk of late-onset Alzheimer's disease (AD) and FTD. For over half of TREM2 variants found in families with recessive early onset dementia, the defect occurs at the transcript level via premature termination codons or aberrant splicing...
January 16, 2024: Brain
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JOURNAL ARTICLE
Lisa Hahn, Simon B Eickhoff, Karsten Mueller, Leonhard Schilbach, Henryk Barthel, Klaus Fassbender, Klaus Fliessbach, Johannes Kornhuber, Johannes Prudlo, Matthis Synofzik, Jens Wiltfang, Janine Diehl-Schmid, Markus Otto, Juergen Dukart, Matthias L Schroeter
BACKGROUND: Aside to clinical changes, behavioral variant frontotemporal dementia (bvFTD) is characterized by progressive structural and functional alterations in frontal and temporal regions. We examined if there is a selective vulnerability of specific neurotransmitter systems in bvFTD by evaluating the link between disease-related functional alterations and the spatial distribution of specific neurotransmitter systems and their underlying gene expression levels. METHODS: Maps of fractional amplitude of low-frequency fluctuations (fALFF) were derived as a measure of local activity from resting-state functional magnetic resonance imaging for 52 bvFTD patients (mean age = 61...
January 15, 2024: ELife
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JOURNAL ARTICLE
Alberto Benussi, Enrico Premi, Mario Grassi, Antonella Alberici, Valentina Cantoni, Stefano Gazzina, Silvana Archetti, Roberto Gasparotti, Giorgio G Fumagalli, Arabella Bouzigues, Lucy L Russell, Kiran Samra, David M Cash, Martina Bocchetta, Emily G Todd, Rhian S Convery, Imogen Swift, Aitana Sogorb-Esteve, Carolin Heller, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Raquel Sanchez-Valle, Fermin Moreno, Robert Jr Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre Mendonça, Pietro Tiraboschi, Chris R Butler, Isabel Santana, Alexander Gerhard, Isabelle Le Ber, Florence Pasquier, Simon Ducharme, Johannes Levin, Sandro Sorbi, Markus Otto, Alessandro Padovani, Jonathan D Rohrer, Barbara Borroni
BACKGROUND: The Genetic Frontotemporal Initiative Staging Group has proposed clinical criteria for the diagnosis of prodromal frontotemporal dementia (FTD), termed mild cognitive and/or behavioral and/or motor impairment (MCBMI). The objective of the study was to validate the proposed research criteria for MCBMI-FTD in a cohort of genetically confirmed FTD cases against healthy controls. METHODS: A total of 398 participants were enrolled, 117 of whom were carriers of an FTD pathogenic variant with mild clinical symptoms, while 281 were non-carrier family members (healthy controls (HC))...
January 12, 2024: Alzheimer's Research & Therapy
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JOURNAL ARTICLE
Giulia Quattrini, Lorenzo Pini, Ilaria Boscolo Galazzo, Ileana O Jelescu, Jorge Jovicich, Rosa Manenti, Giovanni B Frisoni, Moira Marizzoni, Francesca B Pizzini, Michela Pievani
INTRODUCTION: We investigated in vivo the microstructural integrity of the pathway connecting the locus coeruleus to the transentorhinal cortex (LC-TEC) in patients with Alzheimer's disease (AD) and frontotemporal dementia (FTD). METHODS: Diffusion-weighted MRI scans were collected for 21 AD, 20 behavioral variants of FTD (bvFTD), and 20 controls. Fractional anisotropy (FA), mean, axial, and radial diffusivities (MD, AxD, RD) were computed in the LC-TEC pathway using a normative atlas...
2024: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
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JOURNAL ARTICLE
Felipe Diego Toro-Hernández, Joaquín Migeot, Nicolás Marchant, Daniela Olivares, Franco Ferrante, Raúl González-Gómez, Cecilia González Campo, Sol Fittipaldi, Gonzalo M Rojas-Costa, Sebastian Moguilner, Andrea Slachevsky, Pedro Chaná Cuevas, Agustín Ibáñez, Sergio Chaigneau, Adolfo M García
Cognitive studies on Parkinson's disease (PD) reveal abnormal semantic processing. Most research, however, fails to indicate which conceptual properties are most affected and capture patients' neurocognitive profiles. Here, we asked persons with PD, healthy controls, and individuals with behavioral variant frontotemporal dementia (bvFTD, as a disease control group) to read concepts (e.g., 'sun') and list their features (e.g., hot). Responses were analyzed in terms of ten word properties (including concreteness, imageability, and semantic variability), used for group-level comparisons, subject-level classification, and brain-behavior correlations...
January 9, 2024: NPJ Parkinson's Disease
#34
JOURNAL ARTICLE
Marco Filardi, Valentina Gnoni, Ludovica Tamburrino, Salvatore Nigro, Daniele Urso, Davide Vilella, Benedetta Tafuri, Alessia Giugno, Roberto De Blasi, Stefano Zoccolella, Giancarlo Logroscino
INTRODUCTION: Sleep and rest-activity rhythm alterations are common in neurodegenerative diseases. However, their characterization in patients with behavioral variant frontotemporal dementia (bvFTD) has proven elusive. We investigated rest-activity rhythm alterations, sleep disturbances, and their neural correlates in bvFTD. METHODS: Twenty-seven bvFTD patients and 25 healthy controls completed sleep questionnaires and underwent 7 days of actigraphy while concurrently maintaining a sleep diary...
January 6, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
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JOURNAL ARTICLE
Eliza Polyak
Frontotemporal dementia is a neurodegenerative disease characterized by atrophy of the frontal and temporal lobes of the brain, and it is believed to primarily develop based on genetic factors. Its initial symptoms can appear relatively early, even between the ages of 40-50, affecting approximately 15-22 individuals out of 100,000 annually. The disease manifests in various forms, categorized into behavioral, aphasic, and motor variants due to its diverse presentations. The behavioral variant, constituting about half of the cases, is the most common type...
December 2023: Neuropsychopharmacologia Hungarica
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Ashok Cheemala, Amy L Kimble, Jordan D Tyburski, Nathan K Leclair, Aamir R Zuberi, Melissa Murphy, Evan R Jellison, Bo Reese, Xiangyou Hu, Cathleen M Lutz, Riqiang Yan, Patrick A Murphy
Loss of nuclear TDP-43 occurs in a wide range of neurodegenerative diseases, and specific mutations in the TARDBP gene that encodes the protein are linked to familial Frontal Temporal Lobar Dementia (FTD), and Amyotrophic Lateral Sclerosis (ALS). Although the focus has been on neuronal cell dysfunction caused by TDP-43 variants, TARDBP mRNA transcripts are expressed at similar levels in brain endothelial cells (ECs). Since increased permeability across the blood brain barrier (BBB) precedes cognitive decline, we postulated that altered functions of TDP-43 in ECs contributes to BBB dysfunction in neurodegenerative disease...
December 14, 2023: bioRxiv
#37
MULTICENTER STUDY
Sterre C M de Boer, Lina Riedl, Chiara Fenoglio, Ishana Rue, Ramon Landin-Romero, Sophie Matis, Zac Chatterton, Daniela Galimberti, Glenda Halliday, Janine Diehl-Schmid, Olivier Piguet, Yolande A L Pijnenburg, Simon Ducharme
BACKGROUND: The behavioral variant of frontotemporal dementia (bvFTD) is very heterogeneous in pathology, genetics, and disease course. Unlike Alzheimer's disease, reliable biomarkers are lacking and sporadic bvFTD is often misdiagnosed as a primary psychiatric disorder (PPD) due to overlapping clinical features. Current efforts to characterize and improve diagnostics are centered on the minority of genetic cases. OBJECTIVE: The multi-center study DIPPA-FTD aims to develop diagnostic and prognostic algorithms to help distinguish sporadic bvFTD from late-onset PPD in its earliest stages...
2024: Journal of Alzheimer's Disease: JAD
#38
Jesse A Brown, Alex J Lee, Kristen Fernhoff, Taylor Pistone, Lorenzo Pasquini, Amy B Wise, Adam M Staffaroni, Maria Luisa Mandelli, Suzee E Lee, Adam L Boxer, Katherine P Rankin, Gil D Rabinovici, Maria Luisa Gorno Tempini, Howard J Rosen, Joel H Kramer, Bruce L Miller, William W Seeley
Cognitive and behavioral deficits in Alzheimer's disease (AD) and frontotemporal dementia (FTD) result from brain atrophy and altered functional connectivity. However, it is unclear how atrophy relates to functional connectivity disruptions across dementia subtypes and stages. We addressed this question using structural and functional MRI from 221 patients with AD (n=82), behavioral variant FTD (n=41), corticobasal syndrome (n=27), nonfluent (n=34) and semantic (n=37) variant primary progressive aphasia, and 100 cognitively normal individuals...
December 6, 2023: bioRxiv
#39
JOURNAL ARTICLE
Pavel Prado, Vicente Medel, Raul Gonzalez-Gomez, Agustín Sainz-Ballesteros, Victor Vidal, Hernando Santamaría-García, Sebastian Moguilner, Jhony Mejia, Andrea Slachevsky, Maria Isabel Beherens, David Aguillon, Francisco Lopera, Mario A Parra, Diana Matallana, Marcelo Adrián Maito, Adolfo M Garcia, Nilton Custodio, Alberto Ávila Funes, Stefanie Piña-Escudero, Agustina Birba, Sol Fittipaldi, Agustina Legaz, Agustín Ibañez
The Latin American Brain Health Institute (BrainLat) has released a unique multimodal neuroimaging dataset of 780 participants from Latin American. The dataset includes 530 patients with neurodegenerative diseases such as Alzheimer's disease (AD), behavioral variant frontotemporal dementia (bvFTD), multiple sclerosis (MS), Parkinson's disease (PD), and 250 healthy controls (HCs). This dataset (62.7 ± 9.5 years, age range 21-89 years) was collected through a multicentric effort across five Latin American countries to address the need for affordable, scalable, and available biomarkers in regions with larger inequities...
December 9, 2023: Scientific Data
#40
JOURNAL ARTICLE
Sanjana Shellikeri, Sunghye Cho, Sharon Ash, Carmen Gonzalez-Recober, Corey T Mcmillan, Lauren Elman, Colin Quinn, Defne A Amado, Michael Baer, David J Irwin, Lauren Massimo, Christopher A Olm, Mark Y Liberman, Murray Grossman, Naomi Nevler
OBJECTIVE: To evaluate automated digital speech measures, derived from spontaneous speech (picture descriptions), in assessing bulbar motor impairments in patients with ALS-FTD spectrum disorders (ALS-FTSD). METHODS: Automated vowel algorithms were employed to extract two vowel acoustic measures: vowel space area (VSA), and mean second formant slope (F2 slope). Vowel measures were compared between ALS with and without clinical bulbar symptoms (ALS + bulbar (n = 49, ALSFRS-r bulbar subscore: x¯ = 9...
December 5, 2023: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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