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Neuro-degenerative Diseases

Pantelis Maiovis, Panagiotis Ioannidis, Georgios Gerasimou, Anna Gotzamani-Psarrakou, Dimitrios Karacostas
BACKGROUND AND OBJECTIVE: Cognitive reserve (CR) mediates the clinical expression of brain pathology in Alzheimer's disease, while there are much less relevant data in frontotemporal dementia (FTD). In the present study we examined whether CR, measured using the Cognitive Reserve Index (CRI), correlated with regional cerebral blood flow (rCBF) in Greek FTD patients. METHODS: Eighty FTD patients, i.e., 47 with behavioral variant FTD (bvFTD) and 33 with primary progressive aphasia (PPA), were enrolled into this study...
March 7, 2018: Neuro-degenerative Diseases
Hannes O Tiedt, Beate Benjamin, Michael Niedeggen, Andreas Lueschow
BACKGROUND: In rare cases, patients with Alzheimer disease (AD) present at an early age and with a family history suggestive of an autosomal dominant mode of inheritance. Mutations of the presenilin-1 (PSEN1) gene are the most common causes of dementia in these patients. Early-onset and particularly familial AD patients frequently present with variable non-amnestic cognitive symptoms such as visual, language or behavioural changes as well as non-cognitive, e.g. motor, symptoms. OBJECTIVE: To investigate the phenotypic variability in carriers of the PSEN1 S170F mutation...
February 22, 2018: Neuro-degenerative Diseases
Hamid Hamzeiy, Doruk Savaş, Ceren Tunca, Nesli Ece Şen, Aslı Gündoğdu Eken, Irmak Şahbaz, Daniela Calini, Cinzia Tiloca, Nicola Ticozzi, Antonia Ratti, Vincenzo Silani, A Nazlı Başak
Adult-onset neurological disorders are caused and influenced by a multitude of different factors, including epigenetic modifications. Here, using an ELISA kit selected upon careful testing, we investigated global 5-methylcytosine (5-mC) levels in sporadic and familial amyotrophic lateral sclerosis (sALS and fALS), spinocerebellar ataxia types 1 and 2 (SCA1 and SCA2), Huntington's disease, Friedreich's ataxia, and myotonic dystrophy type 1. We report a significant elevation in global 5-mC levels of about 2-7% on average for sALS (p < 0...
February 9, 2018: Neuro-degenerative Diseases
Shaohua Xu, Saket M Nigam, Lennart Brodin
BACKGROUND: Sorting nexins (SNXs) have diverse functions in protein sorting and membrane trafficking. Recently, single-nucleotide polymorphisms in SNX3 were found to be associated with Alzheimer disease. However, it remains unknown whether SNX3 participates in amyloid (A)β peptide production. OBJECTIVE: To examine the role of SNX3 in Aβ production and APP processing. METHODS: The effect of increased expression of SNX3 was studied in HEK293T cells...
February 7, 2018: Neuro-degenerative Diseases
Mario Merlini, Tunahan Kirabali, Luka Kulic, Roger M Nitsch, Maria Teresa Ferretti
BACKGROUND: Strong genetic and epidemiological evidence points to a crucial role of the immune system in the development of Alzheimer disease (AD). CD3+ T lymphocytes have been described in brains of postmortem AD patients and in transgenic models of AD-like cerebral amyloidosis and tau pathology. However, the occurrence of T cells in AD brains is still controversial; furthermore, the relationship between T cells and hallmarks of AD pathology (amyloid plaques and neurofibrillary tangles) remains to be established...
February 7, 2018: Neuro-degenerative Diseases
Paul G Unschuld
No abstract text is available yet for this article.
January 16, 2018: Neuro-degenerative Diseases
Hea Ree Park, Jinyoung Youn, Jin Whan Cho, Eung-Seok Oh, Ji Sun Kim, Suyeon Park, Wooyoung Jang, Jin Se Park
BACKGROUND/AIMS: Unlike young-onset Parkinson disease (YOPD), characteristics of late-onset PD (LOPD) have not yet been clearly elucidated. We investigated characteristic features and symptoms related to quality of life (QoL) in LOPD patients. METHODS: We recruited drug-naïve, early PD patients. The patient cohort was divided into 3 subgroups based on patient age at onset (AAO): the YOPD group (AAO <50 years), the middle-onset PD (MOPD) group, and the LOPD group (AAO ≥70 years)...
January 12, 2018: Neuro-degenerative Diseases
Qing Li, Xia Wu, Fufang Xie, Kewei Chen, Li Yao, Jiacai Zhang, Xiaojuan Guo, Rui Li
BACKGROUND: Making use of multimodal data simultaneously to understand the neural mechanism of mild cognitive impairment (MCI) has been in the focus nowadays. The simultaneous use of multimodal data can take advantage of each modality which may only provide the view of one specific aspect of the brain. OBJECTIVE: To this end, the present study used structural magnetic resonance imaging (sMRI), fluorodeoxyglucose positron emission tomography (FDG-PET) and florbetapir PET to reveal the integrated brain network between MCI and normal controls (NCs)...
2018: Neuro-degenerative Diseases
Carla Piano, Giacomo Della Marca, Anna Losurdo, Claudio Imperatori, Marcella Solito, Giovanna Calandra-Buonaura, Federica Provini, Pietro Cortelli, Anna Rita Bentivoglio
INTRODUCTION: The aim of the study was to evaluate the clinical reliability of subjective sleep evaluation, based on sleep and psychometric questionnaires, by comparing the results with those obtained with laboratory-based video-polysomnography (V-PSG). PATIENTS AND METHODS: Thirty consecutive Huntington disease (HD) patients were enrolled. Subjective evaluation of sleep included the Pittsburgh Sleep Quality Index (PSQI), the sleep questionnaire for HD (HDQ), the Epworth Sleepiness Scale, the Bologna questionnaire for sleepiness (BQ), the Berlin questionnaire, and the RBD questionnaire; the International Restless Legs Syndrome Study Group scale was administered to patients with positive screening...
November 24, 2017: Neuro-degenerative Diseases
Jennifer A Fifita, Katharine Y Zhang, Jasmin Galper, Kelly L Williams, Emily P McCann, Alison L Hogan, Neil Saunders, Denis Bauer, Ingrid S Tarr, Roger Pamphlett, Garth A Nicholson, Dominic Rowe, Shu Yang, Ian P Blair
BACKGROUND: Mutations in the genes encoding the heterogeneous nuclear ribonucleoproteins hnRNPA1 and hnRNPA2/B1 have been reported in a multisystem proteinopathy that includes amyotrophic lateral sclerosis (ALS) and inclusion body myopathy associated with Paget disease of the bone and frontotemporal dementia. Mutations were also described in the prion-like domain of hnRNPA1 in patients with classic ALS. Another hnRNP protein, hnRNPA3, has been found to be associated with the ALS/frontotemporal dementia protein C9orf72...
November 11, 2017: Neuro-degenerative Diseases
Susana Pinto, Mamede de Carvalho
BACKGROUND/AIMS: The global perception of the health status (HS) of amyotrophic lateral sclerosis (ALS) patients before the initial diagnosis has not been addressed previously. METHODS: We recorded the following at the first visit, before diagnostic information: (1) visual analog scale (VAS) of the EQ-5D; (2) the revised ALS functional rating scale (ALSFRS- R), bulbar (ALSFRSb), upper limb (ALSFRSul), lower limb (ALSFRSll), and respiratory (RofALSFRS-R) subscores; and (3) forced and slow vital capacities...
October 31, 2017: Neuro-degenerative Diseases
Margherita Lo Bello, Francesca Di Fini, Antonietta Notaro, Rossella Spataro, Francesca L Conforti, Vincenzo La Bella
BACKGROUND: Amyotrophic lateral sclerosis (ALS) shows a strong genetic basis, with SOD1, FUS, TARDBP, and C9ORF72 being the genes most frequently involved. This has allowed identification of asymptomatic mutation carriers, which may be of help in understanding the molecular changes preceding disease onset. OBJECTIVES: We studied the cellular expression of FUS protein and the effect of heat-shock- and dithiothreitol-induced stress in fibroblasts from FUS P525L mutation carriers, healthy controls, and patients with sporadic ALS...
October 17, 2017: Neuro-degenerative Diseases
Jee-Eun Yoon, Ji Sun Kim, Wooyoung Jang, Jinse Park, Eungseok Oh, Jinyoung Youn, Suyeon Park, Jin Whan Cho
BACKGROUND/AIMS: Gender differences of health-related quality of life (HRQoL) in patients with various disorders have been reported. Various nonmotor symptoms (NMSs) also affect the patients' lives and HRQoL, even in the early stages of Parkinson disease (PD). Our study aimed to identify whether there are gender differences of HRQoL in PD patients in the early stages, and which NMSs are associated with HRQoL depending on gender. METHOD: Eighty-nine PD patients (47 males, 42 females) and 36 healthy controls were enrolled...
August 25, 2017: Neuro-degenerative Diseases
Xiaomei Yao, Dong Wang, Lei Zhang, Lingling Wang, Zhenxiang Zhao, Si Chen, Xiaotang Wang, Tao Yue, Yiming Liu
BACKGROUND: Growth differentiation factor 15 (GDF15) has been shown to be protective for dopaminergic neurons in animal and ex vivo experiments. However, little is known about its effect on the human body. OBJECTIVE: This study investigated associations between serum GDF15 levels and clinical parameters in patients with Parkinson disease (PD). METHODS: Idiopathic PD patients (n = 104) and age-matched controls (n = 88) were enrolled. Serum GDF15 levels were measured by human enzyme-linked immunosorbent assay...
August 9, 2017: Neuro-degenerative Diseases
Youmei Wang, Tao Yan, Honghui Lu, Weiming Yin, Bin Lin, Weibin Fan, Xiaoli Zhang, Pedro Fernandez-Funez
BACKGROUND: Available drugs for the global Alzheimer disease (AD) epidemic only treat the symptoms without modifying disease progression. Accumulating evidence supports amyloid-β42 (Aβ42)as the key triggering agent in AD, making it the ideal target for disease-modifying therapies. Preclinical studies provided extensive support for passive Aβ42 immunotherapy, leading to human clinical trials with different antibodies. OBJECTIVE: Examine the status of clinical trials for passive immunotherapy against Aβ42...
August 9, 2017: Neuro-degenerative Diseases
Sylvia E Perez, Muhammad Nadeem, Michael H Malek-Ahmadi, Bin He, Elliott J Mufson
BACKGROUND: β-Amyloid (Aβ) is the product of concerted cleavage of the amyloid precursor protein (APP) by β- and γ-secretases. However, the molecular mechanisms that regulate this process are not well understood. Recently, evidence was reported that γ-secretase activating protein (GSAP, 16 kDa), derived from a larger precursor protein (98 kDa), plays a role in Aβ metabolism through a mechanism involving its interaction with both γ-secretase and APP. However, a detailed evaluation of GSAP protein levels and their association with clinical and neuropathological variables are lacking during the clinical progression of Alzheimer disease (AD)...
July 26, 2017: Neuro-degenerative Diseases
(no author information available yet)
No abstract text is available yet for this article.
2017: Neuro-degenerative Diseases
Ana Rita Saldanha Ramos, Carolina Garrett
Huntington's disease (HD) is an incurable, neurodegenerative disease, which manifests via a triad of progressive symptoms: motor impairment, psychiatric disorders, and cognitive decline. Conventionally, the HD diagnosis is based on the presence of involuntary choreiform movements and a positive genetic test for the CAG-expanded allele gene. Although the diagnosis focuses on the motor part of the triad, there is increasing evidence that both cognitive and neuropsychiatric symptoms can, and often do, present decades before the onset of motor symptoms...
2017: Neuro-degenerative Diseases
Andrea Pilotto, Stefano Gazzina, Alberto Benussi, Marta Manes, Valentina Dell'Era, Viviana Cristillo, Maura Cosseddu, Rosanna Turrone, Antonella Alberici, Alessandro Padovani, Barbara Borroni
BACKGROUND: Cognitive deficits are common in progressive supranuclear palsy (PSP), but their relevance and the progression to dementia are still poorly described. The recently revised criteria for PSP consider cognitive dysfunction in the diagnostic work-up. METHODS: The study retrospectively evaluated a series of 99 PSP patients with Richardson syndrome (PSP-RS), subgrouped according to cognitive and behavioural performances into PSP with normal cognition (PSP-NC), PSP with mild cognitive impairment (PSP-MCI), and PSP with dementia (PSP-D)...
2017: Neuro-degenerative Diseases
Jennifer Zitser, Avner Thaler, Noit Inbar, Alona Gad, Achinoam Faust-Socher, Diana Paleacu, Marieta Anca-Herschkovitch, Yakov Balash, Hertzel Shabtai, Elissa L Ash, Ludmila Merkin, Yael Manor, Meir Kestenbaum, Aya Bar David, Chava Peretz, Tova Naiman, Anat Bar-Shira, Avi Orr-Urtreger, Nira Dangoor, Nir Giladi, Tanya Gurevich
BACKGROUND: Worldwide prevalence estimates of Huntington disease (HD) vary widely, with no reliable information regarding the Jewish population in Israel. METHODS: This specialized tertiary single-center cross-sectional study assessed clinical, cognitive, and demographic characteristics of 84 HD patients who were treated at the Movement Disorder Unit of the Tel Aviv Medical Center, Israel. RESULTS: Our cohort was composed of one-third Ashkenazi Jews, 27% Mountain Jews (Caucasus Jews), 18% Sephardi Jews, and 21% Karaites, with both Mountain Jews and Karaites over-represented compared to their relevant proportion in the population of the state of Israel, which is less than 1%...
2017: Neuro-degenerative Diseases
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