750 results match your criteria Neurodegenerative Diseases[Journal]


Non-Invasive Brain Stimulation in Dementia: A Complex Network Story.

Neurodegener Dis 2019 Jan 29;18(5-6):281-301. Epub 2019 Jan 29.

Laboratory Alzheimer's Neuroimaging & Epidemiology, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia,

Non-invasive brain stimulation (NIBS) is emerging as a promising rehabilitation tool for a number of neurodegenerative diseases. However, the therapeutic mechanisms of NIBS are not completely understood. In this review, we will summarize NIBS results in the context of brain imaging studies of functional connectivity and metabolites to gain insight into the possible mechanisms underlying recovery. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000495945DOI Listing
January 2019
1 Read

The Role of MRI Biomarkers and Their Interactions with Cognitive Status and APOE ε4 in Nondemented Elderly Subjects.

Neurodegener Dis 2019 Jan 23;18(5-6):270-280. Epub 2019 Jan 23.

Department of Radiology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing,

Purpose: (1) To investigate atrophy patterns of hippocampal subfield volume and Alzheimer's disease (AD)-signature cortical thickness in mild cognitive impairment (MCI) patients; (2) to explore the association between the neuropsychological (NP) and the brain structure in the MCI and older normal cognition group; (3) to determine whether these associations were modified by the apolipoprotein E (APOE) ε4 gene and cognitive status.

Methods: The FreeSurfer software was used for automated segmentation of hippocampal subfields and AD-signature cortical thickness for 22 MCI patients and 23 cognitive normal controls (NC). The volume, cortical thickness, and the neuropsychological scale were compared with two-sample t tests. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000495754DOI Listing
January 2019

Evaluation of D1/D5 Partial Agonist PF-06412562 in Parkinson's Disease following Oral Administration.

Neurodegener Dis 2018 Nov 19;18(5-6):262-269. Epub 2018 Nov 19.

Pfizer Inc., Cambridge, Massachusetts,

Background: PF-06412562 is a moderately potent, highly selective oral D1/D5 dopamine receptor partial agonist.

Objective: To study the efficacy and safety of a single, oral, split dose of PF-06412562 in patients with Parkinson's disease.

Methods: Following overnight levodopa (L-dopa, Sinemet®) washout, subjects received a single dose of levodopa in open-label period 1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000492498DOI Listing
November 2018

Cerebrospinal Fluid Neurofilaments May Discriminate Upper Motor Neuron Syndromes: A Pilot Study.

Neurodegener Dis 2018 Nov 14;18(5-6):255-261. Epub 2018 Nov 14.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena,

Background: Patients presenting with upper motor neuron (UMN) signs may widely diverge in prognosis, ranging from amyotrophic lateral sclerosis (ALS) to primary lateral sclerosis (PLS) and hereditary spastic paraplegia (hSP). Neurofilaments are emerging as potential diagnostic and prognostic biomarkers for ALS, but the diagnosis of UMN syndromes still relies mostly on clinical long-term observation and on familiarity or genetic confirmation.

Objectives: To test whether phosphorylated neurofilament heavy chain (pNfH) may discriminate different UMN syndromes at diagnosis and to test their prognostic role among these diseases. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/493986
Publisher Site
http://dx.doi.org/10.1159/000493986DOI Listing
November 2018
7 Reads

Cortical Thinning Associated with Age and CSF Biomarkers in Early Parkinson's Disease Is Modified by the SNCA rs356181 Polymorphism.

Neurodegener Dis 2018 Oct 18;18(5-6):233-238. Epub 2018 Oct 18.

Movement Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

The role of cerebrospinal fluid (CSF) biomarkers such as CSF α-synuclein and CSF tau in predicting cognitive decline in Parkinson's disease (PD) continues to be inconsistent. Here, using a cohort of de novo PD patients with preserved cognition from the Parkinson's Progression Markers Initiative (PPMI), we show that the SNCA rs356181 single nucleotide polymorphism (SNP) modulates the effect of these CSF biomarkers on cortical thinning. Depending on this SNP's genotype, cortical atrophy was associated with either higher or lower CSF biomarker levels. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000493103DOI Listing
October 2018

C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing.

Neurodegener Dis 2018 Oct 18;18(5-6):239-253. Epub 2018 Oct 18.

Division of Human Genetics and UC Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Background: European studies identified the C9orf72 repeat expansion as the most frequent genetic alteration in patients with Huntington disease (HD)-like phenotypes but negative HD genetic testing.

Objective: To investigate C9orf72 repeat expansion frequency in individuals tested for HD in a North American tertiary referral laboratory.

Methods: Three hundred and seventy-three cases (115 positive and 258 negative for HD) were evaluated by genotyping PCR, with follow-up Southern blot and 5' repeat methylation status assessment by combined repeat-primed and methylation-specific PCR in a subset. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/492499
Publisher Site
http://dx.doi.org/10.1159/000492499DOI Listing
October 2018
10 Reads

Critical Review of Complementary and Alternative Medicine Use in Amyotrophic Lateral Sclerosis: Prevalence and Users' Profile, Decision-Making, Information Seeking, and Disclosure in the Face of a Lack of Efficacy.

Neurodegener Dis 2018 24;18(4):225-232. Epub 2018 Sep 24.

Faculty of Health, University of Technology Sydney, Sydney, New South Wales, Australia.

Background: Despite a lack of evidence of clinical efficacy for complementary and alternative medicine (CAM) use in amyotrophic lateral sclerosis (ALS), these medicines remain popular around the world.

Objective: To examine the prevalence and cost of CAM use in ALS and CAM users' profile, decision-making, information seeking, and disclosure among ALS patients.

Methods: A comprehensive literature search was conducted of MEDLINE, CINAHL/SCOPUS, and AMED databases from their inception to April 2018. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000492946DOI Listing
January 2019
12 Reads

Prevalence of Apolipoprotein E Polymorphisms in Alzheimer's Disease, Mild Cognitive Impairment, and Healthy Elderly: A Northern Greece Study.

Neurodegener Dis 2018 11;18(4):216-224. Epub 2018 Sep 11.

First Department of Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000491764DOI Listing
January 2019
1 Read

Evaluation of Chitotriosidase and CC-Chemokine Ligand 18 as Biomarkers of Microglia Activation in Amyotrophic Lateral Sclerosis.

Neurodegener Dis 2018 22;18(4):208-215. Epub 2018 Aug 22.

Department of Neurology, Complejo Hospitalario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona, Spain.

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.

Methods: We studied CSF and plasma samples from 32 patients and 42 healthy controls. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000490920DOI Listing
January 2019
2 Reads

Relationship between Liver Pathology and Disease Progression in a Murine Model of Amyotrophic Lateral Sclerosis.

Neurodegener Dis 2018 21;18(4):200-207. Epub 2018 Aug 21.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000491392DOI Listing
January 2019

Gene Co-Expression Network Analysis Implicates microRNA Processing in Parkinson's Disease Pathogenesis.

Authors:
Jason A Chen

Neurodegener Dis 2018 8;18(4):191-199. Epub 2018 Aug 8.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000490427DOI Listing
January 2019

Estimating the Evolution of Disease in the Parkinson's Progression Markers Initiative.

Neurodegener Dis 2018 8;18(4):173-190. Epub 2018 Aug 8.

Alzheimer's Therapeutic Research Institute, University of Southern California, San Diego, California, USA.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000488780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314496PMC
January 2019
1 Read

Interferon Lambda Family along with HTLV-1 Proviral Load, Tax, and HBZ Implicated in the Pathogenesis of Myelopathy/Tropical Spastic Paraparesis.

Neurodegener Dis 2018 10;18(2-3):150-155. Epub 2018 Jul 10.

Department of Virology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.

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). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000490058DOI Listing
January 2019
9 Reads

Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.

Neurodegener Dis 2018 2;18(2-3):156-164. Epub 2018 Jul 2.

Department of Neurology, Peking University People's Hospital, Beijing, China.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000490248DOI Listing
January 2019
7 Reads

Feasibility of Smartphone-Based Testing of Interference in Parkinson's Disease.

Neurodegener Dis 2018 25;18(2-3):133-142. Epub 2018 Jun 25.

Department of Neurology, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000488593DOI Listing
January 2019
5 Reads

Distinctive Olfactory Pattern in Parkinson's Disease and Non-Neurodegenerative Causes of Hyposmia.

Neurodegener Dis 2018 25;18(2-3):143-149. Epub 2018 Jun 25.

Movement Disorders Unit, Neurology Service, Hospital Universitari Germans Trias I Pujol, Badalona, Spain.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000488680DOI Listing
January 2019
39 Reads

Neurofilament Subunit L Levels in the Cerebrospinal Fluid and Serum of Patients with Amyotrophic Lateral Sclerosis.

Neurodegener Dis 2018 13;18(2-3):165-172. Epub 2018 Jun 13.

Department of Neurology, Tianjin First Center Hospital, Tianjin Medical University, Tianjin, China.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000488681DOI Listing
January 2019
16 Reads

Education-Adjusted Normality Thresholds for FDG-PET in the Diagnosis of Alzheimer Disease.

Neurodegener Dis 2018 5;18(2-3):120-126. Epub 2018 Jun 5.

Nuclear Medicine and Molecular Imaging Division, Geneva University Hospitals, Geneva, Switzerland.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000488915DOI Listing
January 2019
2 Reads

Gradual Phenotype Development in Huntington Disease Transgenic Minipig Model at 24 Months of Age.

Neurodegener Dis 2018 5;18(2-3):107-119. Epub 2018 Jun 5.

Laboratory of Cell Regeneration and Plasticity, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Libechov, Czech Republic.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000488592DOI Listing
January 2019
23 Reads

Combinations of Multiple Neuroimaging Markers using Logistic Regression for Auxiliary Diagnosis of Alzheimer Disease and Mild Cognitive Impairment.

Neurodegener Dis 2018 5;18(2-3):91-106. Epub 2018 Jun 5.

College of Information Science and Technology, Beijing Normal University, Beijing, China.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000487801DOI Listing
January 2019
3 Reads
3.510 Impact Factor

Association between White Matter Lesions and Non-Motor Symptoms in Parkinson Disease.

Neurodegener Dis 2018 5;18(2-3):127-132. Epub 2018 Jun 5.

Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

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. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/489311
Publisher Site
http://dx.doi.org/10.1159/000489311DOI Listing
January 2019
14 Reads

Characteristics of Early Oropharyngeal Dysphagia in Patients with Multiple System Atrophy.

Neurodegener Dis 2018 5;18(2-3):84-90. Epub 2018 Apr 5.

Department of Rehabilitation Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Jongno-Gu, Seoul, Republic of Korea.

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. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/487800
Publisher Site
http://dx.doi.org/10.1159/000487800DOI Listing
January 2019
48 Reads

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.

Neurodegener Dis 2018 27;18(2-3):74-83. Epub 2018 Mar 27.

Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, Shandong University School of Medicine, Jinan, China.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000487754DOI Listing
January 2019
9 Reads

Cognitive Reserve Hypothesis in Frontotemporal Dementia: Evidence from a Brain SPECT Study in a Series of Greek Frontotemporal Dementia Patients.

Neurodegener Dis 2018 7;18(2-3):69-73. Epub 2018 Mar 7.

B Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000486621DOI Listing
January 2019
5 Reads

Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1.

Neurodegener Dis 2018 22;18(2-3):57-68. Epub 2018 Feb 22.

Department of Neurology, Charité - Universitätsmedizin Berlin, Campus Benjamin Franklin (CBF), Berlin, Germany.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000485899DOI Listing
January 2019
4 Reads

Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.

Neurodegener Dis 2018 9;18(1):38-48. Epub 2018 Feb 9.

Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000486201DOI Listing
January 2019
11 Reads
2 Citations
3.511 Impact Factor

Overexpression of SNX3 Decreases Amyloid-β Peptide Production by Reducing Internalization of Amyloid Precursor Protein.

Neurodegener Dis 2018 7;18(1):26-37. Epub 2018 Feb 7.

Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000486199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916825PMC
January 2019
3 Reads

Extravascular CD3+ T Cells in Brains of Alzheimer Disease Patients Correlate with Tau but Not with Amyloid Pathology: An Immunohistochemical Study.

Neurodegener Dis 2018 7;18(1):49-56. Epub 2018 Feb 7.

Institute for Regenerative Medicine (IREM), University of Zurich, Switzerland Neuroscience Center Zurich (ZNZ), Zurich, Switzerland.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000486200DOI Listing
January 2019
6 Reads

Novel Translational Research Methodology and the Prospect to a Better Understanding of Neurodegenerative Disease.

Authors:
Paul G Unschuld

Neurodegener Dis 2018 16;18(1):1-4. Epub 2018 Jan 16.

Hospital for Psychogeriatric Medicine, Psychiatric University Hospital Zurich, Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000486565DOI Listing
January 2019
6 Reads

Aberrant Connectivity in Mild Cognitive Impairment and Alzheimer Disease Revealed by Multimodal Neuroimaging Data.

Neurodegener Dis 2018 13;18(1):5-18. Epub 2018 Jan 13.

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). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000484248DOI Listing
January 2019
10 Reads

Characteristic Motor and Nonmotor Symptoms Related to Quality of Life in Drug-Naïve Patients with Late-Onset Parkinson Disease.

Neurodegener Dis 2018 12;18(1):19-25. Epub 2018 Jan 12.

Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

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. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/484249
Publisher Site
http://dx.doi.org/10.1159/000484249DOI Listing
January 2019
3 Reads

Subjective Assessment of Sleep in Huntington Disease: Reliability of Sleep Questionnaires Compared to Polysomnography.

Neurodegener Dis 2017 24;17(6):330-337. Epub 2017 Nov 24.

Center for Parkinson Disease and Extrapyramidal Disorders, Movement Disorders Unit, Institute of Neurology, Catholic University, Rome, Italy.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000480701DOI Listing
July 2018
5 Reads

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.

Neurodegener Dis 2017 11;17(6):304-312. Epub 2017 Nov 11.

Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000481258DOI Listing
July 2018
18 Reads

Health Status Perspectives in Amyotrophic Lateral Sclerosis.

Neurodegener Dis 2017 31;17(6):323-329. Epub 2017 Oct 31.

Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

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. Correlations were tested by the Pearson correlation test. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000480638DOI Listing
July 2018
9 Reads

Huntington's Disease: Premotor Phase.

Neurodegener Dis 2017 27;17(6):313-322. Epub 2017 Oct 27.

Faculty of Medicine, University of Porto, Porto, Portugal.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000481172DOI Listing
July 2018
6 Reads

ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic FUS P525L Mutation Carriers.

Neurodegener Dis 2017 17;17(6):292-303. Epub 2017 Oct 17.

ALS Clinical Research Center and Laboratory of Neurochemistry, Department of Experimental Biomedicine and Clinical Neurosciences, University of Palermo, Palermo, Italy.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000480085DOI Listing
July 2018
12 Reads

Mild Cognitive Impairment and Progression to Dementia in Progressive Supranuclear Palsy.

Neurodegener Dis 2017 8;17(6):286-291. Epub 2017 Sep 8.

Neurology Unit, Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

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). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000479110DOI Listing
July 2018
10 Reads

Gender Differences of Nonmotor Symptoms Affecting Quality of Life in Parkinson Disease.

Neurodegener Dis 2017 25;17(6):276-280. Epub 2017 Aug 25.

Departments of Neurology, Seoul National University School of Medicine, Seoul National University Bundang Hospital, Bundang, Republic of Korea.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000479111DOI Listing
July 2018
8 Reads

Two Ethnic Clusters with Huntington Disease in Israel: The Case of Mountain Jews and Karaites.

Neurodegener Dis 2017 25;17(6):281-285. Epub 2017 Aug 25.

Movement Disorders Unit, Neurological Institute, Tel Aviv Medical Center, Tel Aviv, Israel.

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%. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/479375
Publisher Site
http://dx.doi.org/10.1159/000479375DOI Listing
July 2018
13 Reads

Cerebral Small Vessel Disease Is Associated with Dysregulation in the Ubiquitin Proteasome System and Other Major Cellular Pathways in Specific Brain Regions.

Neurodegener Dis 2017 16;17(6):261-275. Epub 2017 Aug 16.

Department of Biomedicine, University of Basel, Brain Tumor Biology Laboratory, Basel, Switzerland.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000478529DOI Listing
July 2018
18 Reads

Serum Growth Differentiation Factor 15 in Parkinson Disease.

Neurodegener Dis 2017 9;17(6):251-260. Epub 2017 Aug 9.

Department of Neurology, Qilu Hospital, Shandong University, Jinan, China.

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). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000477349DOI Listing
July 2018
14 Reads

Lessons from Anti-Amyloid-β Immunotherapies in Alzheimer Disease: Aiming at a Moving Target.

Neurodegener Dis 2017 9;17(6):242-250. Epub 2017 Aug 9.

Department of Pharmacy, Second Affiliated Hospital of Zhejiang University School of Medicine, Changxing Branch, Changxing People's Hospital, Huzhou, PR China.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000478741DOI Listing
July 2018
37 Reads

Frontal Cortex and Hippocampal γ-Secretase Activating Protein Levels in Prodromal Alzheimer Disease.

Neurodegener Dis 2017 26;17(6):235-241. Epub 2017 Jul 26.

Department of Neurobiology, Barrow Neurological Institute, Phoenix, AZ, USA.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000477937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5730491PMC
July 2018
34 Reads

Serum Interleukin-10 Levels Correlate with Cerebrospinal Fluid Amyloid Beta Deposition in Alzheimer Disease Patients.

Neurodegener Dis 2017 19;17(4-5):227-234. Epub 2017 Jul 19.

Department of Experimental and Clinical Medical Sciences, University of Udine Medical School, Udine, Italy.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000474940DOI Listing
April 2018
41 Reads

Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs.

Neurodegener Dis 2017 21;17(4-5):213-226. Epub 2017 Jun 21.

Laboratory for Study of Mitochondrial Disorders, Department of Pediatrics and Adolescent Medicine, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000475467DOI Listing
April 2018
27 Reads

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.

Neurodegener Dis 2017 31;17(4-5):208-212. Epub 2017 May 31.

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000464445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540751PMC
April 2018
23 Reads

Exploring Neural Efficiency in Multiple Sclerosis Patients during the Symbol Digit Modalities Test: A Functional Magnetic Resonance Imaging Study.

Neurodegener Dis 2017 25;17(4-5):199-207. Epub 2017 May 25.

Departament de Psicología Bàsica, Clínica i Psicobiología, Universitat Jaume I, Hospital General de Castellón, Castellón de la Plana, Spain.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000460252DOI Listing
April 2018
12 Reads

A Novel Ataxic Mutant Mouse Line Having Sensory Neuropathy Shows Heavy Iron Deposition in Kidney.

Neurodegener Dis 2017 11;17(4-5):181-198. Epub 2017 May 11.

Department of Anatomy, The Jikei University School of Medicine, Tokyo, Japan.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000457126DOI Listing
April 2018
29 Reads

Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations.

Neurodegener Dis 2017 6;17(4-5):171-180. Epub 2017 May 6.

Department of Neurosciences, St. Agostino-Estense Hospital and Local Health Unit of Modena, Modena, Italy.

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.

Objective: Hypothesizing a multistep pathogenic mechanism (genetic susceptibility and environmental exposure), we aimed to study selenium species in ALS patients carrying disease-associated gene mutations as compared to a series of hospital controls. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000460253DOI Listing
April 2018
11 Reads

Increased Risk of Bullous Pemphigoid after First-Ever Stroke: A Population-Based Study.

Neurodegener Dis 2017 4;17(4-5):166-170. Epub 2017 May 4.

Department of Neurology, Sijhih Cathay General Hospital, New Taipei City, Taiwan, ROC.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000469710DOI Listing
April 2018
18 Reads