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Neuro-degenerative Diseases

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https://www.readbyqxmd.com/read/29621788/characteristics-of-early-oropharyngeal-dysphagia-in-patients-with-multiple-system-atrophy
#1
Hyun Haeng Lee, Han Gil Seo, Kwang-Dong Kim, Seung Hak Lee, Woo Hyung Lee, Byung-Mo Oh, Woong-Woo Lee, Yoon Kim, Aryun Kim, Han-Joon Kim, Beomseok Jeon, Tai Ryoon Han
BACKGROUND/AIMS: Dysphagia, a symptom of multiple system atrophy (MSA), is a major clinical concern. In this study, we investigate the characteristics of early oropharyngeal dysphagia (OD) in patients with MSA, and the differences between MSA subtypes. METHODS: Patients enrolled in the study had previously been diagnosed with MSA at the clinic of the Department of Neurology, and had been referred for a videofluoroscopic swallowing study (VFSS), between 2005 and 2014, to check for dysphagia...
April 5, 2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29587262/whole-genome-linkage-analysis-with-whole-exome-sequencing-identifies-a-novel-frameshift-variant-in-nefh-in-a-chinese-family-with-charcot-marie-tooth-2-a-novel-variant-in-nefh-for-charcot-marie-tooth-2
#2
Xianli Bian, Pengfei Lin, Jiangxia Li, Feng Long, Ruonan Duan, Qianqian Yuan, Yan Li, Fei Gao, Shang Gao, Shijun Wei, Xi Li, Wenjie Sun, Yaoqin Gong, Chuanzhu Yan, Qiji Liu
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common neurodegenerative disorder of the peripheral nervous system. More than 50 genes/loci were found associated with the disease. We found a family with autosomal-dominant CMT2. OBJECTIVE: To reveal the pathogenic gene of the family and further investigate the function of the variant. METHODS: DNA underwent whole-genome linkage analysis for all family members and whole-exome sequencing for 2 affected members...
March 27, 2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29514157/cognitive-reserve-hypothesis-in-frontotemporal-dementia-evidence-from-a-brain-spect-study-in-a-series-of-greek-frontotemporal-dementia-patients
#3
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
https://www.readbyqxmd.com/read/29466804/phenotypic-variability-in-autosomal-dominant-familial-alzheimer-disease-due-to-the-s170f-mutation-of-presenilin-1
#4
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
https://www.readbyqxmd.com/read/29428949/elevated-global-dna-methylation-is-not-exclusive-to-amyotrophic-lateral-sclerosis-and-is-also-observed-in-spinocerebellar-ataxia-types-1-and-2
#5
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...
2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29414832/overexpression-of-snx3-decreases-amyloid-%C3%AE-peptide-production-by-reducing-internalization-of-amyloid-precursor-protein
#6
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...
2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29402847/extravascular-cd3-t-cells-in-brains-of-alzheimer-disease-patients-correlate-with-tau-but-not-with-amyloid-pathology-an-immunohistochemical-study
#7
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...
2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29339665/novel-translational-research-methodology-and-the-prospect-to-a-better-understanding-of-neurodegenerative-disease
#8
Paul G Unschuld
No abstract text is available yet for this article.
2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29334684/aberrant-connectivity-in-mild-cognitive-impairment-and-alzheimer-disease-revealed-by-multimodal-neuroimaging-data
#9
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
https://www.readbyqxmd.com/read/29324447/characteristic-motor-and-nonmotor-symptoms-related-to-quality-of-life-in-drug-na%C3%A3-ve-patients-with-late-onset-parkinson-disease
#10
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)...
2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29241187/contents-vol-17-2017
#11
(no author information available yet)
No abstract text is available yet for this article.
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29169178/subjective-assessment-of-sleep-in-huntington-disease-reliability-of-sleep-questionnaires-compared-to-polysomnography
#12
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...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29131108/genetic-and-pathological-assessment-of-hnrnpa1-hnrnpa2-b1-and-hnrnpa3-in-familial-and-sporadic-amyotrophic-lateral-sclerosis
#13
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...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29084402/health-status-perspectives-in-amyotrophic-lateral-sclerosis
#14
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...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29073635/huntington-s-disease-premotor-phase
#15
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
https://www.readbyqxmd.com/read/29035885/als-related-mutant-fus-protein-is-mislocalized-to-cytoplasm-and-is-recruited-into-stress-granules-of-fibroblasts-from-asymptomatic-fus-p525l-mutation-carriers
#16
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...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28881351/mild-cognitive-impairment-and-progression-to-dementia-in-progressive-supranuclear-palsy
#17
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
https://www.readbyqxmd.com/read/28848156/gender-differences-of-nonmotor-symptoms-affecting-quality-of-life-in-parkinson-disease
#18
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...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28848105/two-ethnic-clusters-with-huntington-disease-in-israel-the-case-of-mountain-jews-and-karaites
#19
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
https://www.readbyqxmd.com/read/28810250/cerebral-small-vessel-disease-is-associated-with-dysregulation-in-the-ubiquitin-proteasome-system-and-other-major-cellular-pathways-in-specific-brain-regions
#20
Marie-Françoise Ritz, Caspar Grond-Ginsbach, Felix Fluri, Manja Kloss, Markus Tolnay, Nils Peters, Stefan Engelter, Philippe Lyrer
BACKGROUND/AIMS: Cerebral small vessel disease (SVD) is characterized by periventricular white matter (WM) changes and can lead to vascular dementia, the second most common form of age-dependent dementia. The pathogenesis of the disease remains poorly understood, and studies of its molecular basis are limited. By profiling gene expression of dissected postmortem brain tissue in SVD patients and comparisons with tissue of nonneurological controls, we aimed to identify genes and processes that are involved in the pathogenesis of SVD to gain new pathogenetic insights...
2017: Neuro-degenerative Diseases
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