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Fronto temporal dementia

Dawn H W Lau, Naomi Hartopp, Natalie J Welsh, Sarah Mueller, Elizabeth B Glennon, Gábor M Mórotz, Ambra Annibali, Patricia Gomez-Suaga, Radu Stoica, Sebastien Paillusson, Christopher C J Miller
Fronto-temporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are two related and incurable neurodegenerative diseases. Features of these diseases include pathological protein inclusions in affected neurons with TAR DNA-binding protein 43 (TDP-43), dipeptide repeat proteins derived from the C9ORF72 gene, and fused in sarcoma (FUS) representing major constituent proteins in these inclusions. Mutations in C9ORF72 and the genes encoding TDP-43 and FUS cause familial forms of FTD/ALS which provides evidence to link the pathology and genetics of these diseases...
February 28, 2018: Cell Death & Disease
Ross Ferguson, Vasanta Subramanian
Angiogenin (ANG), a member of the RNase superfamily (also known as RNase 5) has neurotrophic, neuroprotective and angiogenic activities. Recently it has also been shown to be important in stem cell homeostasis. Mutations in ANG are associated with neurodegenerative diseases such as Amyotrophic Lateral Sclerosis (ALS) and Fronto-temporal dementia (FTD). ANG is a secreted protein which is taken up by cells and translocated to the nucleus. However, the import pathway/s through which ANG is taken up is/are still largely unclear...
2018: PloS One
Sarah E Scullion, Gareth R I Barker, E Clea Warburton, Andrew D Randall, Jonathan T Brown
Neurodegenerative diseases affecting cognitive dysfunction, such as Alzheimer's disease and fronto-temporal dementia, are often associated impairments in the visual recognition memory system. Recent evidence suggests that synaptic plasticity, in particular long term depression (LTD), in the perirhinal cortex (PRh) is a critical cellular mechanism underlying recognition memory. In this study, we have examined novel object recognition and PRh LTD in rTg4510 mice, which transgenically overexpress tauP301L . We found that 8-9 month old rTg4510 mice had significant deficits in long- but not short-term novel object recognition memory...
February 26, 2018: Neurochemical Research
Layla T Ghaffari, Alexander Starr, Andrew T Nelson, Rita Sattler
Neurological diseases, including dementias such as Alzheimer's disease (AD) and fronto-temporal dementia (FTD) and degenerative motor neuron diseases such as amyotrophic lateral sclerosis (ALS), are responsible for an increasing fraction of worldwide fatalities. Researching these heterogeneous diseases requires models that endogenously express the full array of genetic and epigenetic factors which may influence disease development in both familial and sporadic patients. Here, we discuss the two primary methods of developing patient-derived neurons and glia to model neurodegenerative disease: reprogramming somatic cells into induced pluripotent stem cells (iPSCs), which are differentiated into neurons or glial cells, or directly converting (DC) somatic cells into neurons (iNeurons) or glial cells...
2018: Frontiers in Neuroscience
Fabrizio Biundo, Dolores Del Prete, Hong Zhang, Ottavio Arancio, Luciano D'Adamio
Tau plays a pivotal role in the pathogenesis of neurodegenerative disorders: mutations in the gene encoding for tau (MAPT) are linked to Fronto-temporal Dementia (FTD) and hyper-phosphorylated aggregates of tau forming neurofibrillary tangles (NFTs) that constitute a pathological hallmark of Alzheimer disease (AD) and FTD. Accordingly, tau is a favored therapeutic target for the treatment of these diseases. Given the criticality of tau to dementia's pathogenesis and therapy, it is important to understand the physiological function of tau in the central nervous system...
February 16, 2018: Scientific Reports
Pauline Vercruysse, Didier Vieau, David Blum, Åsa Petersén, Luc Dupuis
Neurodegenerative diseases (NDDs) are disorders characterized by progressive deterioration of brain structure and function. Selective neuronal populations are affected leading to symptoms which are prominently motor in amyotrophic lateral sclerosis (ALS) or Huntington's disease (HD), or cognitive in Alzheimer's disease (AD) and fronto-temporal dementia (FTD). Besides the common existence of neuronal loss, NDDs are also associated with metabolic changes such as weight gain, weight loss, loss of fat mass, as well as with altered feeding behavior...
2018: Frontiers in Molecular Neuroscience
Joshua Jackson, Gabby Bianco, Angelo O Rosa, Katrina Cowan, Peter Bond, Oleg Anichtchik, Robert Fern
Early white matter (WM) changes are common in dementia and may contribute to functional decline. We here examine this phenomenon in an induced dementia model for the first time. We report a novel and selective form of myelin injury as the first manifestation of tauopathy in the adult central nervous system. Myelin pathology rapidly followed the induction of a P301 tau mutation associated with fronto-temporal dementia in humans (rTG4510 line). Damage involved focal disruption of the ad-axonal myelin lamella and internal oligodendrocyte tongue process, followed by myelin remodeling with features of re-myelination that included myelin thinning and internodal shortening...
January 8, 2018: Glia
Soowon Park, Taehoon Kim, Seong A Shin, Yu Kyeong Kim, Bo Kyung Sohn, Hyeon-Ju Park, Jung-Hae Youn, Jun-Young Lee
Background: Facial emotion recognition (FER) is impaired in individuals with frontotemporal dementia (FTD) and Alzheimer's disease (AD) when compared to healthy older adults. Since deficits in emotion recognition are closely related to caregiver burden or social interactions, researchers have fundamental interest in FER performance in patients with dementia. Purpose: The purpose of this study was to identify the performance profiles of six facial emotions (i.e., fear, anger, disgust, sadness, surprise, and happiness) and neutral faces measured among Korean healthy control (HCs), and those with mild cognitive impairment (MCI), AD, and FTD...
2017: Frontiers in Aging Neuroscience
Dianne C Daniel, Edward M Johnson
The PURA gene encodes Pur-alpha, a 322 amino acid protein with repeated nucleic acid binding domains that are highly conserved from bacteria through humans. PUR genes with a single copy of this domain have been detected so far in spirochetes and bacteroides. Lower eukaryotes possess one copy of the PUR gene, whereas chordates possess 1 to 4 PUR family members. Human PUR genes encode Pur-alpha (Pura), Pur-beta (Purb) and two forms of Pur-gamma (Purg). Pur-alpha is a protein that binds specific DNA and RNA sequence elements...
February 15, 2018: Gene
Christina Zarouchlioti, David A Parfitt, Wenwen Li, Lauren M Gittings, Michael E Cheetham
Maintenance of protein homeostasis is vitally important in post-mitotic cells, particularly neurons. Neurodegenerative diseases such as polyglutamine expansion disorders-like Huntington's disease or spinocerebellar ataxia (SCA), Alzheimer's disease, fronto-temporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Parkinson's disease-are often characterized by the presence of inclusions of aggregated protein. Neurons contain complex protein networks dedicated to protein quality control and maintaining protein homeostasis, or proteostasis...
January 19, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
David M Cash, Martina Bocchetta, David L Thomas, Katrina M Dick, John C van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B Frisoni, Robert Laforce, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Martin N Rossor, Sebastien Ourselin, Jonathan D Rohrer
Frontotemporal dementia (FTD) is a highly heritable condition with multiple genetic causes. In this study, similarities and differences of gray matter (GM) atrophy patterns were assessed among 3 common forms of genetic FTD (mutations in C9orf72, GRN, and MAPT). Participants from the Genetic FTD Initiative (GENFI) cohort with a suitable volumetric T1 magnetic resonance imaging scan were included (319): 144 nonmutation carriers, 128 presymptomatic mutation carriers, and 47 clinically affected mutation carriers...
February 2018: Neurobiology of Aging
Ryohei Watanabe, Ito Kawakami, Mitsumoto Onaya, Shinji Higashi, Nobutaka Arai, Haruhiko Akiyama, Masato Hasegawa, Tetsuaki Arai
Catatonia is a clinical syndrome characterized by symptoms such as immobility, mutism, stupor, stereotypy, echophenomena, catalepsy, automatic obedience, posturing, negativism, gegenhalten and ambitendency. This syndrome occurs mostly in mood disorder and schizophrenic patients, and is related to neuronal dysfunction involving the frontal lobe. Some cases of frontotemporal dementia (FTD) with catatonia have been reported, but these cases were not examined by autopsy. Here, we report on a FTD case which showed catatonia after the first episode of brief psychotic disorder...
November 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Matthias Brendel, Jonas Schnabel, Sonja Schönecker, Leonie Wagner, Eva Brendel, Johanna Meyer-Wilmes, Marcus Unterrainer, Andreas Schildan, Marianne Patt, Catharina Prix, Nibal Ackl, Cihan Catak, Oliver Pogarell, Johannes Levin, Adrian Danek, Katharina Buerger, Peter Bartenstein, Henryk Barthel, Osama Sabri, Axel Rominger
PURPOSE: In recent years, several [(18)F]-labeled amyloid-PET tracers have been developed and have obtained clinical approval. Despite their widespread scientific use, studies in routine clinical settings are limited. We therefore investigated the impact of [(18)F]-florbetaben (FBB)-PET on the diagnostic management of patients with suspected dementia that was still unclarified after [(18)F]-fluordeoxyglucose (FDG)-PET. METHODS: All subjects were referred in-house with a suspected dementia syndrome due to neurodegenerative disease...
December 2017: European Journal of Nuclear Medicine and Molecular Imaging
Stefania Pezzoli, Annachiara Cagnin, Oliver Bandmann, Annalena Venneri
Patients with Lewy body disease (LBD) frequently experience visual hallucinations (VH), well-formed images perceived without the presence of real stimuli. The structural and functional brain mechanisms underlying VH in LBD are still unclear. The present review summarises the current literature on the neural correlates of VH in LBD, namely Parkinson's disease (PD), and dementia with Lewy bodies (DLB). Following a systematic literature search, 56 neuroimaging studies of VH in PD and DLB were critically reviewed and evaluated for quality assessment...
July 15, 2017: Brain Sciences
Miryam Carecchio, Marina Picillo, Lorella Valletta, Antonio E Elia, Tobias B Haack, Autilia Cozzolino, Annalisa Vitale, Barbara Garavaglia, Arcangela Iuso, Caterina F Bagella, Sabina Pappatà, Paolo Barone, Holger Prokisch, Luigi Romito, Valeria Tiranti
Mutations in PSEN1 are responsible for familial Alzheimer's disease (FAD) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset dementia cases. Parkinsonism in FAD has been mainly described in advanced disease stages. We characterized a patient presenting with early-onset dystonia-parkinsonism later complicated by dementia and myoclonus. Brain MRI showed signs of iron accumulation in the basal ganglia mimicking neurodegeneration with brain iron accumulation (NBIA) as well as fronto-temporal atrophy...
July 2017: Neurogenetics
Nicholas I Bradfield, Catriona McLean, John Drago, David G Darby, David Ames
Fronto-temporal dementia (FTD) associated with Fused in Sarcoma (FUS) protein accumulation is an uncommon cause of FTD with a distinct syndrome of young age onset behavioral variant FTD, without a family history of FTD and caudate atrophy. We present a sporadic case of a 61-year-old patient with mixed features of both behavioral variant FTD with later semantic language dissolution associated with pathologically proven FUS. He was older than usual for FUS pathology, his course was rapidly progressive, and he had atypical language features...
June 29, 2017: International Psychogeriatrics
Bhuvaneish T Selvaraj, Matthew R Livesey, Siddharthan Chandran
C9ORF72 repeat expansion is the most frequent causal genetic mutation giving rise to amyotrophic lateral sclerosis (ALS) and fronto-temporal dementia (FTD). The relatively recent discovery of the C9ORF72 repeat expansion in 2011 and the complexity of the mutation have meant that animal models that successfully recapitulate human C9ORF72 repeat expansion-mediated disease are only now emerging. Concurrent advances in the use of patient-derived induced pluripotent stem cells (iPSCs) to model aspects of neurological disease offers an additional approach for the study of C9ORF72 mutation...
July 2017: Brain Pathology
Sarah Pospos, Min Xi, Guanjie Chen, Ruiguo Zhang, Qingrong Tan, Andrius Baskys
A 56-year old Chinese female was referred to an academic medical center with atypical, treatment-resistant depression that continued for approximately 3 years after her sister's death. Comprehensive evaluation including neurocognitive testing, EEG, spinal tap, HIV testing and brain MRI revealed behavioral variant of fronto-temporal dementia (bvFTD) with significant frontal and temporal lobe atrophy.This patient's unusual clinical presentation emphasizes the overlap between depression and bvFTD, and underlines the importance of prompt, accurate diagnosis to minimize often-ineffective pharmacological interventions and caregiver burnout...
December 23, 2016: Clinical Gerontologist
Patrizia Bossolasco, Raffaella Cancello, Alberto Doretti, Claudia Morelli, Vincenzo Silani, Lidia Cova
BACKGROUND: Adiponectin (APN) is a key player in energy homeostasis strictly associated with cerebrovascular and neurodegenerative diseases. Since APN also belongs to anti-inflammatory-acting adipokines and may influence both neuroinflammation and neurodegenerative processes, we decided to study the APN levels in amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases. METHODS: We assessed APN levels by ELISA immunoassay in both the serum and cerebrospinal fluid of a cohort of familial and sporadic ALS patients, characterized by normal body mass index and absence of dysautonomic symptoms...
April 20, 2017: Journal of Neuroinflammation
Paolo Solla, Gioia Mura, Antonino Cannas, Gianluca Floris, Davide Fonti, Gianni Orofino, Mauro Giovanni Carta, Francesco Marrosu
BACKGROUND: Dementia with Lewy bodies (DLB) is the second most frequent diagnosis of progressive degenerative dementia in older people. Delusions are common features in DLB and, among them, Capgras syndrome represents the most frequent disturbance, characterized by the recurrent and transient belief that a familiar person, often a close family member or caregiver, has been replaced by an identical-looking imposter. However, other delusional conditions near to misidentification syndromes can occur in DLB patients and may represent a major psychiatric disorder, although rarely studied systematically...
April 19, 2017: BMC Neurology
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