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Neuro-degenerative Diseases

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https://www.readbyqxmd.com/read/28881351/mild-cognitive-impairment-and-progression-to-dementia-in-progressive-supranuclear-palsy
#1
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)...
September 8, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28848156/gender-differences-of-nonmotor-symptoms-affecting-quality-of-life-in-parkinson-disease
#2
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
https://www.readbyqxmd.com/read/28848105/two-ethnic-clusters-with-huntington-disease-in-israel-the-case-of-mountain-jews-and-karaites
#3
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%...
August 25, 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
#4
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...
August 16, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28787735/serum-growth-differentiation-factor-15-in-parkinson-disease
#5
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
https://www.readbyqxmd.com/read/28787714/lessons-from-anti-amyloid-%C3%AE-immunotherapies-in-alzheimer-disease-aiming-at-a-moving-target
#6
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
https://www.readbyqxmd.com/read/28743126/frontal-cortex-and-hippocampal-%C3%AE-secretase-activating-protein-levels-in-prodromal-alzheimer-disease
#7
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
https://www.readbyqxmd.com/read/28719891/serum-interleukin-10-levels-correlate-with-cerebrospinal-fluid-amyloid-beta-deposition-in-alzheimer-disease-patients
#8
Lucio D'Anna, Samir Abu-Rumeileh, Martina Fabris, Cinzia Pistis, Antonio Baldi, Nova Sanvilli, Francesco Curcio, Gian Luigi Gigli, Sebastiano D'Anna, Mariarosaria Valente
BACKGROUND AND OBJECTIVE: In Alzheimer disease (AD) inflammation becomes evident throughout the course of the disease. However, the association between inflammation, cognitive impairment, and cerebrospinal biomarkers (Aβ42, t-tau, p-tau181, and Aβ42/p-tau181 ratio) is poorly understood. METHODS: A large panel of inflammatory cytokines (interleukin [IL]-1β, IL-1ra, IL-2, IL-4, IL-6, IL-10, IL-17, interferon-γ, tumor necrosis factor-α, and vascular endothelial growth factor) was analyzed using a multiplex immunoassay in 27 patients with a diagnosis of AD dementia and in 18 control subjects...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28633139/mitochondrial-metabolism-in-a-large-animal-model-of-huntington-disease-the-hunt-for-biomarkers-in-the-spermatozoa-of-presymptomatic-minipigs
#9
Jana Krizova, Hana Stufkova, Marie Rodinova, Monika Macakova, Bozena Bohuslavova, Daniela Vidinska, Jiri Klima, Zdenka Ellederova, Antonin Pavlok, David S Howland, Jiri Zeman, Jan Motlik, Hana Hansikova
BACKGROUND: Huntington disease (HD) is a fatal neurodegenerative disorder involving reduced muscle coordination, mental and behavioral changes, and testicular degeneration. In order to further clarify the decreased fertility and penetration ability of the spermatozoa of transgenic HD minipig boars (TgHD), we applied a set of mitochondrial metabolism (MM) parameter measurements to this promising biological material, which can be collected noninvasively in longitudinal studies. OBJECTIVE: We aimed to optimize methods for MM measurements in spermatozoa and to establish possible biomarkers of HD in TgHD spermatozoa expressing the N-terminal part of mutated human huntingtin...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28558379/slc25a46-mutations-associated-with-autosomal-recessive-cerebellar-ataxia-in-north-african-families
#10
Monia B Hammer, Jinhui Ding, Fanny Mochel, Ghada Eleuch-Fayache, Perrine Charles, Marie Coutelier, J Raphael Gibbs, Sampath K Arepalli, Sean B Chong, Dena G Hernandez, Elisa Majounie, Steven Clipman, Yosr Bouhlal, Houda Nehdi, Alexis Brice, Faycal Hentati, Giovanni Stevanin, Rim Amouri, Alexandra Durr, Andrew B Singleton
BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as pyramidal signs or extraneurological features are found. OBJECTIVE: To identify the genetic origin of the cerebellar ataxia for 3 consanguineous North African families presenting with ARCA. METHODS: Genome-wide high-density SNP genotyping and whole-exome sequencing were performed followed by Sanger sequencing for mutation confirmation...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28538226/exploring-neural-efficiency-in-multiple-sclerosis-patients-during-the-symbol-digit-modalities-test-a-functional-magnetic-resonance-imaging-study
#11
María Sol Fittipaldi-Márquez, Álvaro Javier Cruz-Gómez, Carla Sanchis-Segura, Antonio Belenguer, César Ávila, Cristina Forn
BACKGROUND: Reduced information-processing speed (IPS) is a primary cognitive deficit of multiple sclerosis (MS) patients. The neural efficiency hypothesis describes an inverse relationship between cognitive performance in a task and the amount of cognitive resources devoted to it. Previous studies have shown that the neural efficiency hypothesis provides an appropriate framework to explore cognitive dysfunction in neurological patients. OBJECTIVE: The aim of this study was to explore the neural efficiency hypothesis regarding IPS capabilities in cognitively preserved MS patients...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28490024/a-novel-ataxic-mutant-mouse-line-having-sensory-neuropathy-shows-heavy-iron-deposition-in-kidney
#12
Hisashi Hashimoto, Tomonori Kawabe, Takahiro Fukuda, Moriaki Kusakabe
BACKGROUND/AIMS: A novel ataxic mouse line was established from the offspring of a male mouse administered cyclophosphamide in a juvenile period. METHODS: We have attempted to examine the phenotype and histopathological changes of affected mice. Furthermore, linkage analysis and sequencing of the mutant was performed to reveal the causative gene locus. RESULTS AND CONCLUSION: The affected mouse was characterized by heavy hind limb ataxia with gait disorder, which was first recognized at about 4 weeks of age and slowly progressed with advancing age...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28478440/elevated-levels-of-selenium-species-in-cerebrospinal-fluid-of-amyotrophic-lateral-sclerosis-patients-with-disease-associated-gene-mutations
#13
Jessica Mandrioli, Bernhard Michalke, Nikolay Solovyev, Peter Grill, Federica Violi, Christian Lunetta, Amelia Conte, Valeria Ada Sansone, Mario Sabatelli, Marco Vinceti
BACKGROUND: Although an increasing role of genetic susceptibility has been recognized, the role of environmental risk factors in amyotrophic lateral sclerosis (ALS) etiology is largely uncertain; among neurotoxic chemicals, epidemiological and biological plausibility has been provided for pesticides, the heavy metal lead, the metalloid selenium, and other persistent organic pollutants. Selenium involvement in ALS has been suggested on the basis of epidemiological studies, in vitro investigations, and veterinary studies in which selenium induced a selective toxicity against motor neurons...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28467996/increased-risk-of-bullous-pemphigoid-after-first-ever-stroke-a-population-based-study
#14
Ai-Ling Shen, Hsiu-Li Lin, Hsiu-Chen Lin, Yuan-Fu Tseng, Chien-Yeh Hsu, Che-Yi Chou
BACKGROUND: We hypothesize that autoantibodies are induced after the blood-brain barrier is damaged by stroke and the risk of bullous pemphigoid (BP) is increased after stroke. We assess the risk of BP after first-ever stroke in a nationwide population-based cohort of first-ever stroke patients. METHODS: We extracted data from the Longitudinal Health Insurance Database 2005 and identified patients with first-ever stroke as well as control patients matched for age, gender, and year of enrollment...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28463835/neurodegeneration-and-the-cerebellum
#15
Margot Samson, Daniel O Claassen
BACKGROUND: The cerebellum modulates diverse neuronal networks, regulating motor, cognitive, behavioral, and limbic circuits. Structural and functional changes to the cerebellum that occur with neurodegenerative conditions have not been systematically reviewed. OBJECTIVE: We synthesize the current understanding of cerebellar somatotopy and function with previously described cerebellar changes in neurodegenerative diseases not associated with primary cerebellar pathology...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28445885/patterns-of-microglial-cell-activation-in-alzheimer-disease-and-frontotemporal-lobar-degeneration
#16
Ricardo Taipa, Paulo Brochado, Andrew Robinson, Inês Reis, Patrício Costa, David M Mann, Manuel Melo Pires, Nuno Sousa
AIMS: Microglia-driven neuroinflammation can play an important role in the pathophysiology of neurodegenerative disorders. In this study, we sought to characterize the distribution of microglial cell activation in 2 neurodegenerative dementias with distinct protein signatures, Alzheimer disease (AD) and frontotemporal lobar degeneration (FTLD) of the TDP subtype, and to determine if there was an anatomical correlation with the phenotypes most commonly associated with these conditions...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28441649/home-based-physical-behavior-in-late-stage-parkinson-disease-dementia-differences-between-cognitive-subtypes
#17
Bernhard Cerff, Walter Maetzler, Patricia Sulzer, Malte Kampmeyer, Jos Prinzen, Markus A Hobert, Dominik Blum, Rob van Lummel, Silvia Del Din, Susanne Gräber, Daniela Berg, Inga Liepelt-Scarfone
BACKGROUND: For the early diagnosis of Parkinson disease dementia (PDD), objective home-based tools are needed to quantify even mild stages of dysfunction of the activities of daily living (ADL). OBJECTIVES: In this pilot study, home-based physical behavior was assessed to examine whether it is possible to distinguish mild cognitive impairment (PD-MCI) from PDD. METHODS: Fifty-five patients with mild to severe Parkinson disease (PD) participated in this cross-sectional study...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28297705/mechanisms-clinical-strategies-and-promising-treatments-of-neurodegenerative-diseases-13th-international-conference-ad-pdtm-vienna-austria-march-29-to-april-2-2017-abstracts
#18
(no author information available yet)
No abstract text is available yet for this article.
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28268209/patterns-of-eye-movement-impairment-correlate-with-regional-brain-atrophy-in-neurodegenerative-parkinsonism
#19
Olga Vintonyak, Martin Gorges, Hans-Peter Müller, Elmar H Pinkhardt, Albert C Ludolph, Hans-Jürgen Huppertz, Jan Kassubek
BACKGROUND: One common feature of neurodegenerative parkinsonism including Parkinson's disease (PD), multisystem atrophy (MSA), and progressive supranuclear palsy (PSP) is altered eye movement control. Characteristic regional structural atrophy patterns in MRI can be observed in PD, MSA, and PSP. OBJECTIVE: To investigate the association between eye movement disturbances and regional brain atrophy in patients with PD, MSA, and PSP. METHODS: High-resolution 3-dimensional T1-weighted MRI images and video-oculographic recordings (EyeLink®) were obtained from 39 PD, 32 PSP, and 18 MSA patients and 24 matched healthy control subjects...
2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28245482/neuropsychiatric-symptoms-in-alzheimer-disease-vascular-dementia-and-mixed-dementia
#20
Cassandra J Anor, Sean O'Connor, Amardeep Saund, David F Tang-Wai, Ron Keren, Maria Carmela Tartaglia
BACKGROUND/AIMS: Neuropsychiatric symptoms (NPS) are common in Alzheimer disease (AD) and vascular dementia (VaD), and are distressful to patients and caregivers. NPS are likely related to the underlying pathology. Previous studies suggest that frontal lobe lesions and vascular changes such as white matter hyperintensities (WMH) have a significant association with specific NPS. The current study aimed to compare NPS in patients with AD, VaD, and mixed AD/VaD, and to evaluate the differences in the prevalence of NPS in relation to frontal WMH volume...
2017: Neuro-degenerative Diseases
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