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Neuro-degenerative Diseases

Anthoula C Tsolaki, Olympia Gatzima, Makrina Daniilidou, Eutuxia Lazarou, Panagiotis D Bamidis, Eleni Verykouki, Zafiroura Iakovidou-Kritsi, Magda Tsolaki
BACKGROUND: Apolipoprotein E ε4 allele (APOEε4) is a major genetic risk factor for Alzheimer's disease (AD). APOEε4 carriers have a higher risk of cognitive impairment and AD in a gene dose-dependent manner. The above notion is investigated in the Greek population. METHODS: A sample of 1,703 subjects (967 AD patients, 576 mild cognitive impairment [MCI] and 160 Healthy Elderly), was genotyped for APOE from 2008 to 2017. DNA was extracted from peripheral blood using the QIAamp Blood DNA purification kit (Qiagen Inc...
September 11, 2018: Neuro-degenerative Diseases
Leyre Martinez-Merino, Marina Iridoy, Arkaitz Galbete, Miren Roldán, Adriana Rivero, Blanca Acha, Pilar Irún, Cecilia Canosa, Miguel Pocoví, Maite Mendioroz, Ivonne Jericó
BACKGROUND: The development of biomarkers for use in diagnosing, monitoring disease progression and analyzing therapeutic trials response in amyotrophic lateral sclerosis (ALS) is essential. OBJECTIVE: The aim of this study was to identify inflammatory factors in plasma or cerebrospinal fluid (CSF) from patients with ALS with particular attention to specific markers of microglia activation as chitotriosidase (ChT) and chemokine (C-C motif) ligand 18 (CCL18) to determine its potential as ALS biomarkers...
August 22, 2018: Neuro-degenerative Diseases
Sun Hwa Lee, Eun Jin Yang
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that causes selective motor neuron cell death and accompanying skeletal muscle atrophy and structural deformities. In both patients with ALS and animal models, there appears to be spinal cord and muscle pathology. This pathology can be modeled in hSOD1G93A mice, which have a point mutation in the gene for superoxide dismutase 1. Similar to patients with ALS, hSOD1G93A mice present hepatic abnormalities and lymphocytic infiltration in the liver...
August 21, 2018: Neuro-degenerative Diseases
Jason A Chen
BACKGROUND: Recent advances in genetics have provided insights into important inherited causes of Parkinson's disease (PD), but the underlying biological mechanisms are still incompletely understood. Gene expression studies have pointed toward the dysregulation of neuroinflammation, mitochondrial function, and protein degradation pathways. OBJECTIVE: We aimed to identify groups of dysregulated genes in PD. METHODS: In order to increase statistical power and control for potential confounders, we re-analyzed transcriptomic data from PD patients and model systems, integrating additional genomic data using a systems biology approach...
August 8, 2018: Neuro-degenerative Diseases
Samuel Iddi, Dan Li, Paul S Aisen, Michael S Rafii, Irene Litvan, Wesley K Thompson, Michael C Donohue
Parkinson's disease is the second most common neurological disease and affects about 1% of persons over the age of 60 years. Due to the lack of approved surrogate markers, confirmation of the disease still requires postmortem examination. Identifying and validating biomarkers are essential steps toward improving clinical diagnosis and accelerating the search for therapeutic drugs to ameliorate disease symptoms. Until recently, statistical analysis of multicohort longitudinal studies of neurodegenerative diseases has usually been restricted to a single analysis per outcome with simple comparisons between diagnostic groups...
August 8, 2018: Neuro-degenerative Diseases
Sayed-Hamidreza Mozhgani, Hamid Reza Jahantigh, Houshang Rafatpanah, Narges Valizadeh, Asadollah Mohammadi, Samira Basharkhah, Seyed Abdolrahim Rezaee
HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic neuroinflammatory disease related to human T lymphotropic virus type 1 (HTLV-1) infection. Interferon type III (IFN-λ), which includes IL28, IL29, and IL28R, and affects the outcome of viral infections, might be complicated in the progression of HAM/TSP. Here, we investigated the host-virus interactions in the manifestation of HAM/TSP, using IL28B, IL29, IL28R, HTLV-1 Tax, HTLV-1 basic leucine zipper factor (HBZ), and proviral load (PVL)...
2018: Neuro-degenerative Diseases
Yusen Qiu, Ling Xin, Yuyao Wang, Yanyan Yu, Keji Zou, Qian Zhou, Yunqing Chen, Shuyun Chen, Min Zhu, Daojun Hong
BACKGROUND: Adult adrenomyeloneuropathy (AMN) is caused by mutations in the ABCD1 gene. Some pure AMN patients develop cerebral demyelination late in life. However, hypoplasia and agenesis of the corpus callosum (CC) has never been reported in AMN patients. OBJECTIVE: To describe a new clinical variant of AMN that is possibly caused by a novel ABCD1 gene mutation. METHODS: A total of 10 members in an X-linked inherited family were examined...
2018: Neuro-degenerative Diseases
Will Lee, David R Williams, Andrew Evans
BACKGROUND: Interference refers to learned associations and established behaviors "interfering" with response to new material. It forms a core pillar of executive functions, which are commonly affected in Parkinson's disease (PD). Cognitive interference test (CIT) forms part of a smartphone application designed for ambulatory assessment in PD. OBJECTIVE: The aims of this study were to establish that CIT could effectively demonstrate interference and would perform comparably to the Stroop Color-Word Test Victoria version (VST) despite PD-related motor impairment...
2018: Neuro-degenerative Diseases
Ane Miren Crespo Cuevas, Lourdes Ispierto, Dolores Vilas, Anna Planas, Albert Planas, Irina Isern, Josep Sanchez, Josep De Haro, Ramiro Alvarez
BACKGROUND: Olfactory dysfunction is common in Parkinson's disease (PD). The characteristics of the hyposmia in PD have not been well defined. OBJECTIVE: To characterize the pattern of the olfactory deficit in PD and in other non-neurodegenerative aetiologies of hyposmia. METHODS: We evaluated 36 PD patients, 20 patients with hyposmia secondary to acute respiratory infection (ARI), and 19 patients with hyposmia secondary to traumatic brain injury (TBI)...
2018: Neuro-degenerative Diseases
Zhong-Ying Gong, Gao-Peng Lv, Li-Na Gao, Yi Lu, Jie Guo, Da-Wei Zang
BACKGROUND: There are no reliable biomarkers that could evaluate the disease burden in amyotrophic lateral sclerosis (ALS). OBJECTIVES: The aim of our study is to evaluate the changes in cerebrospinal fluid (CSF) and serum neurofilament subunit L (NF-L) in patients with ALS and to analyze the correlations between the levels of NF-L and clinical parameters. METHOD: CSF and serum samples were obtained from 80 ALS patients and 40 controls. The levels of NF-L in CSF and serum were assessed, and disease progression parameters including duration, revised ALS Functional Rating Scale (ALSFRS-r) score, disease progression rate (DPR), upper motor neuron (UMN) score, and survival were analyzed by registered neurologists...
2018: Neuro-degenerative Diseases
Ismini C Mainta, Sara Trombella, Silvia Morbelli, Giovanni B Frisoni, Valentina Garibotto
BACKGROUND: A corollary of the reserve hypothesis is that what is regarded as pathological cortical metabolism in patients might vary according to education. OBJECTIVE: The aim of this study is to assess the incremental diagnostic value of education-adjusted over unadjusted thresholds on the diagnostic accuracy of FDG-PET as a biomarker for Alzheimer disease (AD). METHODS: We compared cortical metabolism in 90 healthy controls and 181 AD patients from the Alzheimer Disease Neuroimaging Initiative (ADNI) database...
2018: Neuro-degenerative Diseases
Daniela Vidinská, Petra Vochozková, Petra Šmatlíková, Taras Ardan, Jiří Klíma, Štefan Juhás, Jana Juhásová, Božena Bohuslavová, Monika Baxa, Ivona Valeková, Jan Motlík, Zdenka Ellederová
BACKGROUND: Huntington disease (HD) is an incurable neurodegenerative disease caused by the expansion of a polyglutamine sequence in a gene encoding the huntingtin (Htt) protein, which is expressed in almost all cells of the body. In addition to small animal models, new therapeutic approaches (including gene therapy) require large animal models as their large brains are a more realistic model for translational research. OBJECTIVE: In this study, we describe phenotype development in transgenic minipigs (TgHD) expressing the N-terminal part of mutated human Htt at the age of 24 months...
2018: Neuro-degenerative Diseases
Nini Mao, Yunting Liu, Kewei Chen, Li Yao, Xia Wu
BACKGROUND: Multiple neuroimaging modalities have been developed providing various aspects of information on the human brain. OBJECTIVE: Used together and properly, these complementary multimodal neuroimaging data integrate multisource information which can facilitate a diagnosis and improve the diagnostic accuracy. METHODS: In this study, 3 types of brain imaging data (sMRI, FDG-PET, and florbetapir-PET) were fused in the hope to improve diagnostic accuracy, and multivariate methods (logistic regression) were applied to these trimodal neuroimaging indices...
2018: Neuro-degenerative Diseases
Jeong-Yoon Lee, Ji Sun Kim, Wooyoung Jang, Jinse Park, Eungseok Oh, Jinyoung Youn, Suyeon Park, Jin Whan Cho
BACKGROUND: There are only few studies exploring the relationship between white matter lesions (WMLs) and non-motor symptoms in Parkinson disease (PD). This study aimed to investigate the association between WMLs and the severity of non-motor symptoms in PD. METHODS: The severity of motor dysfunction, cognitive impairment, and non-motor symptoms was assessed by various scales in 105 PD patients. We used a visual semiquantitative rating scale and divided the subjects into four groups: no, mild, moderate, and severe WMLs...
2018: Neuro-degenerative Diseases
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...
2018: Neuro-degenerative Diseases
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...
2018: 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...
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...
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...
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...
2018: Neuro-degenerative Diseases
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