Article
Clinical Neurology
Lina Zapata-Restrepo, Juan Rivas, Carlos Miranda, Bruce L. Miller, Agustin Ibanez, Isabel E. Allen, Katherine Possin
Summary: This study retrospectively reviewed medical records of 28 patients diagnosed with probable bvFTD in a public psychiatric hospital in Cali, Colombia. The majority of patients were initially misdiagnosed with a primary psychiatric condition, with a gender difference in psychiatric diagnosis but not in neuropsychiatric symptoms. These results emphasize the importance of improving bvFTD diagnosis in under-represented populations.
FRONTIERS IN NEUROLOGY
(2021)
Article
Geriatrics & Gerontology
Su Hong Kim, Yae Ji Kim, Byung Hwa Lee, Peter Lee, Ji Hyung Park, Sang Won Seo, Yong Jeong
Summary: The study investigated the behavioral reserve and associated neural substrates in participants with behavioral variant frontotemporal dementia. Analysis of neuroimaging abnormalities and behavioral assessment results revealed differences in disease progression among participants with different levels of behavioral reserve.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Review
Behavioral Sciences
Luiz Kobuti Ferreira, Olof Lindberg, Alexander F. Santillo, Lars-Olof Wahlund
Summary: Functional connectivity (FC) in behavioral variant frontotemporal dementia (bvFTD) has been summarized in this review. The most consistent finding is decreased FC within the salience network (SN), but FC changes extend beyond the SN and affect the interplay between networks. FC is associated with symptoms, functional impairment, and cognition, and the functional architecture resembles patterns of neuropathological spread.
BRAIN AND BEHAVIOR
(2022)
Article
Medicine, General & Internal
Ignacio Illan-Gala, Neus Falgas, Adit Friedberg, Sheila Castro-Suarez, Ophir Keret, Nicole Rogers, Didem Oz, Salvatore Nigro, Andrea Quattrone, Aldo Quattrone, Amy Wolf, Kyan Younes, Miguel Santos-Santos, Sergi Borrego-Ecija, Yann Cobigo, Oriol Dols-Icardo, Albert Llado, Raquel Sanchez-Valle, Jordi Clarimon, Rafael Blesa, Daniel Alcolea, Juan Fortea, Alberto Lleo, Lea T. Grinberg, Salvatore Spina, Joel H. Kramer, Gil D. Rabinovici, Adam Boxer, Maria Luisa Gorno Tempini, Bruce L. Miller, William W. Seeley, Howard J. Rosen, David C. Perry
Summary: This study demonstrates that in bvFTD, VAS scores increase the diagnostic certainty of underlying FTLD, and the MRPI shows potential for detecting participants with underlying 4R tauopathies.
Article
Clinical Neurology
Ignacio Illan-Gala, Kaitlin B. Casaletto, Sergi Borrego-Ecija, Eider M. Arenaza-Urquijo, Amy Wolf, Yann Cobigo, Sheng Yang M. Goh, Adam M. Staffaroni, Daniel Alcolea, Juan Fortea, Rafael Blesa, Jordi Clarimon, Maria Florencia Iulita, Anna Brugulat-Serrat, Albert Llado, Lea T. Grinberg, Katherine Possin, Katherine P. Rankin, Joel H. Kramer, Gil D. Rabinovici, Adam Boxer, William W. Seeley, Virginia E. Sturm, Maria Luisa Gorno-Tempini, Bruce L. Miller, Raquel Sanchez-Valle, David C. Perry, Alberto Lleo, Howard J. Rosen
Summary: The study revealed that women with bvFTD exhibited greater atrophy burden in the frontotemporal regions compared to men, despite having similar clinical characteristics. Additionally, women showed better executive function performance and experienced fewer changes in apathy, sleep, and appetite compared to men at a similar level of atrophy.
ALZHEIMERS & DEMENTIA
(2021)
Article
Neurosciences
Chiara Cerami, Elena Perdixi, Claudia Meli, Alessandra Marcone, Michele Zamboni, Sandro Iannaccone, Alessandra Dodich
Summary: This study developed a short version of the Frontal Behavioral Inventory (mini-FBI) to identify early behavioral changes in behavioral variant of frontotemporal dementia (bvFTD) and aid in the differential diagnosis with Alzheimer's disease (AD). The mini-FBI consisted of 12 items and showed significant convergent validity with the Neuropsychiatric Inventory scores. Cluster analysis identified four clusters, with bvFTD and some AD patients showing similar behavioral patterns.
JOURNAL OF ALZHEIMERS DISEASE
(2022)
Article
Clinical Neurology
Thais Bento Lima Da Silva, Tiago Nascimento Ordonez, Allan Gustavo Bregola, Valeria Santoro Bahia, Mario Amore Cecchini, Henrique Cerqueira Guimaraes, Leandro Boson Gambogi, Paulo Caramelli, Marcio Luiz Figueredo Balthazar, Benito Pereira Damasceno, Sonia Maria Dozzi Brucki, Leonardo Cruz de Souza, Ricardo Nitrini, Monica Sanches Yassuda
Summary: In this study, it was found that over a 12-month period, patients with bvFTD and AD experienced significant increases in neuropsychiatric symptoms and declines in cognitive function. Age was identified as the sole independent predictor of NPI score changes in the bvFTD group, while in the AD group, cognitive function and executive function were associated with changes in NPI scores.
FRONTIERS IN NEUROLOGY
(2021)
Article
Psychology, Clinical
Matthew J. Y. Kang, Sarah Farrand, Andrew Evans, Wei-Hsuan Chiu, Dhamidhu Eratne, Wendy Kelso, Mark Walterfang, Dennis Velakoulis, Samantha M. Loi
Summary: A study found no significant difference in caregiver burden between younger-onset Alzheimer's disease and behavioral variant frontotemporal dementia. This could be due to similarities in patient behavior, motivation, and self-care between the two subtypes. Clinicians should screen for caregiver burden and associated factors, such as behavioral symptoms, in younger-onset dementia syndromes.
INTERNATIONAL PSYCHOGERIATRICS
(2023)
Review
Neurosciences
Roxane Dilcher, Charles B. Malpas, Terence J. O'Brien, Lucy Vivash
Summary: Behavioral variant frontotemporal dementia (bvFTD) is a disease within the frontotemporal lobar degeneration (FTLD) spectrum, characterized by frontal dysfunction and prominent socioemotional impairments. Social cognition, such as emotion processing and theory of mind, significantly affects daily behavior in bvFTD. Abnormal protein accumulation of tau or TDP-43 is the main cause of neurodegeneration and cognitive decline. Differential diagnosis is challenging due to heterogeneous pathology and clinicopathological overlap with other FTLD syndromes. Understanding the association between social behavior and cognition, and underlying pathology is crucial for biomarker validation, clinical trials, and practice.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Clinical Neurology
Adit Friedberg, Eliana Marisa Ramos, Zhongan Yang, Luke W. Bonham, Jennifer S. Yokoyama, Peter A. Ljubenkov, Kyan Younes, Daniel H. Geschwind, Bruce L. Miller
Summary: CSF1R-related leukoencephalopathy is a neurodegenerative disease caused by mutations in CSF1R. This study describes the prodromal and early symptoms of a patient with this disease and identifies a novel pathogenic variant. The findings contribute to the understanding of early manifestations of CSF1R-related leukoencephalopathy and may facilitate early detection and treatment.
FRONTIERS IN NEUROLOGY
(2022)
Article
Neurosciences
Mariano N. Diaz-Rivera, Agustina Birba, Sol Fittipaldi, Debora Mola, Yurena Morera, Manuel de Vega, Sebastian Moguilner, Patricia Lillo, Andrea Slachevsky, Cecilia Gonzalez Campo, Agustin Ibanez, Adolfo M. Garcia
Summary: This study investigated the neural correlates of linguistic negation in healthy controls, behavioral variant frontotemporal dementia (bvFTD) patients, and Alzheimer's disease (AD) patients. The results showed that control participants displayed a delta suppression in frontocentral regions during negative sentences in a No-go condition, which is a marker of inhibition. In bvFTD patients, this suppression was selectively abolished and correlated with the volume and functional connectivity of regions involved in inhibition. This study provides insights into the neural mechanisms of negation and potential neurocognitive markers of bvFTD.
Article
Geriatrics & Gerontology
Alfonso Delgado-Alvarez, Maria Nieves Cabrera-Martin, Maria Valles-Salgado, Cristina Delgado-Alonso, Maria Jose Gil, Maria Diez-Cirarda, Jorge Matias-Guiu, Jordi A. Matias-Guiu
Summary: This study investigated the visuospatial task performance and neural mechanisms in patients with bvFTD and AD. The results showed that patients with AD performed the worst in visuospatial tasks in mild dementia, while patients with bvFTD showed higher correlations between attention and executive functioning and visuospatial performance. The visuospatial deficits in patients with bvFTD were associated with bilateral frontal regions.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Clinical Neurology
Sheila Castro-Suarez, Erik Guevara-Silva, Cesar Caparo-Zamalloa, Victor Osorio-Marcatinco, Maria Meza-Vega, Bruce Miller, Mario Cornejo-Olivas
Summary: Neuropsychiatry medical specialists in Peru receive limited training in FTD, lacking clinical knowledge and attitudes towards bvFTD. They have limited understanding of the diagnostic criteria and assessment tools for bvFTD, and there are misconceptions regarding pharmacological and non-pharmacological management. They also lack education and support for caregivers.
FRONTIERS IN NEUROLOGY
(2022)
Review
Behavioral Sciences
Amandine Geraudie, Petronilla Battista, Adolfo M. Garcia, Isabel E. Allen, Zachary A. Miller, Maria Luisa Gorno-Tempini, Maxime Montembeault
Summary: A systematic review of speech and language impairments in behavioral variant frontotemporal dementia (bvFTD) found extensive and heterogeneous deficits, including consistent lexico-semantic, reading & writing, and prosodic impairments. Preliminary findings suggest that the severity of these deficits might be associated with global cognitive impairment, temporal or fronto-temporal atrophy, and MAPT mutations.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2021)
Article
Behavioral Sciences
Benedetta Tafuri, Marco Filardi, Maria Elisa Frisullo, Roberto De Blasi, Giovanni Rizzo, Salvatore Nigro, Giancarlo Logroscino
Summary: This study uses machine learning techniques to analyze structural MRI data of patients with primary psychiatric disorders (PPD) and helps clinicians accurately diagnose behavioral variant frontotemporal dementia (bvFTD). The results indicate that gray matter atrophy in temporal, frontal, and occipital brain regions may be an important feature of dementia in PPD patients.
BRAIN AND BEHAVIOR
(2023)
Review
Oncology
Hannah C. Timmins, David Mizrahi, Tiffany Li, Matthew C. Kiernan, David Goldstein, Susanna B. Park
Summary: Metabolic syndrome and associated conditions have been identified as potential risk factors for chemotherapy-induced peripheral neurotoxicity (CIPN). Obesity and low physical activity may contribute to the development of CIPN. Further research is needed to explore CIPN risk factors and determine if lifestyle changes can improve long-term outcomes for cancer survivors.
JOURNAL OF CANCER SURVIVORSHIP
(2023)
Article
Geriatrics & Gerontology
Alinka C. Fisher, Sau C. Cheung, Claire M. C. O'Connor, Olivier Piguet
Summary: This pilot study investigated the acceptability and usefulness of a Positive Behaviour Support (PBS) education program for family carers of individuals with behavioural-variant frontotemporal dementia (bvFTD). The results indicate that the program was helpful in improving the carers' capability in providing behaviour support, with positive changes observed in their approach.
JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY
(2023)
Review
Clinical Neurology
Mansur A. Kutlubaev, Jashelle Caga, Ying Xu, Daria K. Areprintseva, Ekaterina Pervushina, Matthew C. Kiernan
Summary: This study aimed to determine the frequency and correlates of apathy in ALS and its impact on the disease prognosis. The findings suggest that the emergence of apathy is associated with cognitive decline and bulbar onset of the disease. Additionally, ALS patients with apathy showed more prominent changes in structural and functional brain imaging. Apathy worsened the long-term prognosis of ALS.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Review
Psychology, Clinical
Jan Van den Stock, Maxime Bertoux, Janine Diehl-Schmid, Olivier Piguet, Katherine P. Rankin, Florence Pasquier, Simon Ducharme, Yolande Pijnenburg, Fiona Kumfor
Summary: Dodich et al. reviewed the clinical use of social cognition assessment in behavioral variant frontotemporal dementia and proposed an initiative to address the limitations in their study.
NEUROPSYCHOLOGY REVIEW
(2023)
Article
Clinical Neurology
Penelope Monroe, Mark Halaki, Georgina Luscombe, Fiona Kumfor, Kirrie J. Ballard
Summary: This study aimed to determine the feasibility and acceptability of the MuSiCON choir and language/communication assessment protocol for individuals with cognitive impairment. The results showed that most participants had a positive response to MuSiCON, perceiving improved daily functioning and high therapeutic benefit without harmful effects. However, there was no reliable change in communication skills. The MuSiCON protocol was well received by participants and staff at the residential facility.
Article
Clinical Neurology
Matthew Silsby, Alessandro F. Fois, Con Yiannikas, Karl Ng, Matthew C. Kiernan, Victor S. C. Fung, Steve Vucic
Summary: This study aimed to evaluate tremor in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and test the hypothesis that tremor occurs due to mistimed peripheral inputs affecting central motor processing, as established in other demyelinating neuropathies. Additionally, the tremor stability index (TSI) was calculated to assess the variability of CIDP-related tremor compared to other tremor disorders.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
A. Skeggs, G. Wei, R. Landin-Romero, J. R. Hodges, O. Piguet, Fiona Kumfor
Summary: This study aims to characterise the clinical profiles of patients with behavioural-variant frontotemporal dementia (bvFTD) from culturally diverse backgrounds. The results showed differences in clinical features, cognitive test performance, and cognitive reserve among patients from different cultural and linguistic backgrounds. The study also found that higher cognitive reserve is associated with lower neural integrity in frontal-temporal regions.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Yue Yang, Dominic Rowe, Heather McCann, Claire E. Shepherd, Jillian J. Kril, Matthew C. Kiernan, Glenda M. Halliday, Rachel H. Tan
Summary: This study compared the pathology of ALS patients who received CuATSM and riluzole with those who only received riluzole, and found no significant difference in neuron density or TDP-43 burden. However, CuATSM treatment led to the presence of p62-immunoreactive astrocytes in the motor cortex and reduced Iba1 density in the spinal cord. There was no significant difference in astrocytic activity and SOD1 immunoreactivity with CuATSM treatment.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Neurosciences
Nathan Pavey, Parvathi Menon, Mehdi A. J. van den Bos, Matthew C. Kiernan, Steve Vucic
Summary: A complex interaction of inhibitory and facilitatory interneuronal processes may underlie the development of cortical excitability. The study utilized threshold tracking transcranial magnetic stimulation to assess cortical excitability with different coil orientations. Significant effects of coil orientation were observed on short interval intracortical inhibition (SICI) and facilitation (SICF). The results suggest that distinct interneuronal processes are recruited with variable cortical orientation and thresholds.
NEUROSCIENCE LETTERS
(2023)
Article
Multidisciplinary Sciences
Lyndal Henden, Liam G. Fearnley, Natalie Grima, Emily P. McCann, Carol Dobson-Stone, Lauren Fitzpatrick, Kathryn Friend, Lynne Hobson, Sandrine Chan Moi Fat, Dominic B. Rowe, Susan D'Silva, John B. Kwok, Glenda M. Halliday, Matthew C. Kiernan, Srestha Mazumder, Hannah C. Timmins, Margaret Zoing, Roger Pamphlett, Lorel Adams, Melanie Bahlo, Ian P. Blair, Kelly L. Williams
Summary: In this study, we analyzed whole-genome sequencing data from 608 patients with sporadic ALS, 68 patients with sporadic FTD, and 4703 matched controls using three tools. We found that 17.6% of clinically diagnosed ALS and FTD cases had expanded STR alleles reported to be pathogenic or intermediate for other neurodegenerative diseases, providing evidence for their contribution to the development of these diseases. We also identified multiple disease-relevant STR expansions associated with neurodegenerative diseases, highlighting the clinical and pathological pleiotropy of neurodegenerative disease genes and their importance in ALS and FTD.
Article
Neurosciences
Oana C. Marian, Jonathan D. Teo, Jun Yup Lee, Huitong Song, John B. Kwok, Ramon Landin-Romero, Glenda Halliday, Anthony S. Don
Summary: Heterozygous mutations in the GRN gene and hexanucleotide repeat expansions in C9orf72 are the most common genetic causes of Frontotemporal Dementia (FTD) with TDP-43 protein inclusions. Our comprehensive lipidomic analysis suggests that both C9orf72 and GRN mutations disrupt lysosomal homeostasis and result in white matter lipid loss, but GRN mutations cause more pronounced disruption to myelin lipid metabolism. The findings provide biochemical evidence supporting the use of MRI measures of white matter integrity in the diagnosis and management of FTD.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Review
Cell Biology
Jen-Hsiang T. Hsiao, Onur Tanglay, Anne A. Li, Aysha Y. G. Strobbe, Woojin Scott Kim, Glenda M. Halliday, YuHong Fu
Summary: Multiple system atrophy (MSA) is a debilitating movement disorder with unknown etiology. It presents with characteristic parkinsonism and/or cerebellar dysfunction due to deterioration in specific brain regions. The early pathological events and development mechanisms of MSA are reviewed, focusing on the involvement of oligodendrocyte lineage cells and alpha-synuclein. This understanding will guide future research in MSA.
Article
Neurosciences
Halle Quang, Campbell Le Heron, Bernard Balleine, Tuong-Vu Nguyen, Truc-Quynh Nguyen, My-Ngan Nguyen, Fiona Kumfor, Skye Mcdonald
Summary: Altered reward processing is a key mechanism underlying apathy in many brain disorders, but little is known about its role in moderate-to-severe traumatic brain injury (TBI). This study provides the first evidence linking disrupted background reward processing to apathy in TBI, suggesting novel interventions to address this complication.
Article
Neurosciences
Adahir Labrador-Garrido, Siying Zhong, Laura Hughes, Shikara Keshiya, Woojin S. Kim, Glenda M. Halliday, Nicolas Dzamko
Summary: This study utilized a GCase substrate probe and live cell imaging to measure lysosomal enzyme activity. The results showed heterogeneity in GCase activity among PD patients, and a significant inverse correlation between GCase activity and α-synuclein protein levels. These findings suggest the importance of GCase in PD, and demonstrate the utility of this live cell imaging assay for further research on GCase in PD.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Article
Clinical Neurology
Matthew Silsby, Con Yiannikas, Alessandro F. Fois, Marina L. Kennerson, Matthew C. Kiernan, Victor S. C. Fung, Steve Vucic
Summary: Neuropathic tremor is a common clinical feature in CMT1A, with distinct characteristics compared to essential tremor. Upper limb tremors were postural and kinetic, while lower limb tremors were postural and orthostatic. The frequency of upper limb tremors varied along the limb, with a lower frequency distally and a higher frequency proximally. Lower limb tremors had a consistent frequency and were unaffected by fatigue. Postural lower limb tremor was associated with imbalance.
JOURNAL OF NEUROLOGY
(2023)