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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)...
July 10, 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...
July 2, 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...
June 25, 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)...
June 25, 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...
June 13, 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...
June 5, 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...
June 5, 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...
June 5, 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...
June 5, 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...
April 5, 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...
March 27, 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...
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...
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
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
Paul G Unschuld
No abstract text is available yet for this article.
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
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
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No abstract text is available yet for this article.
2017: Neuro-degenerative Diseases
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