6,078 results match your criteria Multiple System Atrophy


Altered functional connectivity of dentate nucleus in parkinsonian and cerebellar variants of multiple system atrophy.

Brain Imaging Behav 2019 Apr 23. Epub 2019 Apr 23.

Department of Radiology, The First Affiliated Hospital of China Medical University, Shenyang, LN, China.

The cerebellum is known to influence cerebral cortical activity via cerebello-thalamo-cortical (CTC) circuits and thereby may be implicated in the pathophysiology of multiple system atrophy (MSA). As the aim of this study, we investigated the abnormalities of corticocerebellar functional connectivity (FC) in patients with two variants of MSA. Resting-state functional magnetic resonance imaging (rs-fMRI) studies were obtained from 55 patients with MSA, including Parkinsonian (MSAp, n = 29) and cerebellar (MSAc, n = 26) variants. Read More

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http://dx.doi.org/10.1007/s11682-019-00097-5DOI Listing

Endogenous oligodendroglial alpha-synuclein and TPPP/p25α orchestrate alpha-synuclein pathology in experimental multiple system atrophy models.

Acta Neuropathol 2019 Apr 22. Epub 2019 Apr 22.

Center of Clinical Research, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens (BRFAA), 4 Soranou Efesiou Street, 11527, Athens, Greece.

Multiple system atrophy (MSA) is characterized by the presence of distinctive glial cytoplasmic inclusions (GCIs) within oligodendrocytes that contain the neuronal protein alpha-synuclein (aSyn) and the oligodendroglia-specific phosphoprotein TPPP/p25α. However, the role of oligodendroglial aSyn and p25α in the formation of aSyn-rich GCIs remains unclear. To address this conundrum, we have applied human aSyn (haSyn) pre-formed fibrils (PFFs) to rat wild-type (WT)-, haSyn-, or p25α-overexpressing oligodendroglial cells and to primary differentiated oligodendrocytes derived from WT, knockout (KO)-aSyn, and PLP-haSyn-transgenic mice. Read More

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http://dx.doi.org/10.1007/s00401-019-02014-yDOI Listing

Phosphorylated NUB1 distinguishes α-synuclein in Lewy bodies from that in glial cytoplasmic inclusions in multiple system atrophy.

Brain Pathol 2019 Apr 21. Epub 2019 Apr 21.

Department of Neuropathology, Institute of Brain Science, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, 036-8562, Japan.

Posttranslational modifications by phosphorylation, ubiquitination, neddylation, and other pathways have emerged as major regulators of cellular functions. NEDD8 ultimate buster 1, NUB1, is an adaptor protein, which negatively regulates the levels of the ubiquitin-like protein NEDD8 as well as neddylated proteins through proteasomal degradation. We previously reported that NUB1 is highly involved in the pathogenesis of synucleinopathy including Parkinson's disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA). Read More

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http://dx.doi.org/10.1111/bpa.12728DOI Listing

Selective vulnerability in α-synucleinopathies.

Acta Neuropathol 2019 Apr 20. Epub 2019 Apr 20.

Department of Movement and Clinical Neurosciences, UCL Queen Square Institute of Neurology, University College London, Rowland Hill Street, London, NW3 2PF, UK.

Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy are neurodegenerative disorders resulting in progressive motor/cognitive deficits among other symptoms. They are characterised by stereotypical brain cell loss accompanied by the formation of proteinaceous aggregations of the protein α-synuclein (α-syn), being, therefore, termed α-synucleinopathies. Although the presence of α-syn inclusions is a common hallmark of these disorders, the exact nature of the deposited protein is specific to each disease. Read More

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http://link.springer.com/10.1007/s00401-019-02010-2
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http://dx.doi.org/10.1007/s00401-019-02010-2DOI Listing
April 2019
1 Read

Differential diagnosis of multiple system atrophy with predominant parkinsonism and Parkinson's disease using neural networks.

J Neurol Sci 2019 Apr 11;401:19-26. Epub 2019 Apr 11.

Neurology Kato Clinic, 4-5-36 Ichinoki, Ise City, Mie Prefecture 516-0071, Japan.

Differential diagnosis between Parkinson's disease (PD) and atypical parkinsonism, such as multiple system atrophy (MSA), can be difficult, especially in the early stages of the disease. Deep learning using neural networks (NNs) makes possible the prediction of the diagnosis using various types of biomarkers, unlike conventional linear statistics. We aimed to differentiate the Parkinson's variant of MSA (MSA-P) from PD both in the early stages by clinical utilization of NN analyses before the hot cross-bun and putaminal rim imaging features of MSA appeared. Read More

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http://dx.doi.org/10.1016/j.jns.2019.04.014DOI Listing

Association between restless legs syndrome and other movement disorders.

Neurology 2019 Apr 19. Epub 2019 Apr 19.

From the Section of Neurology (H.A.-N., F.J.J.-J.), Hospital Universitario del Sureste, Arganda del Rey, Madrid; and University Institute of Molecular Pathology Biomarkers (E.G.-M., J.A.G.A), UNEx, ARADyAL Instituto de Salud Carlos III, Cáceres, Spain.

Objective: This review focuses on the possible association between restless legs syndrome (RLS) and movement disorders, including Parkinson disease (PD), other parkinsonian syndromes, essential tremor, choreic and dystonic syndromes, Tourette syndrome, and heredodegenerative ataxias.

Methods: Review of PubMed from 1966 to September 2018 and identification of references of interest for the topic. A meta-analysis of eligible studies on the frequency of RLS in patients with PD and controls using Meta-DiSc1. Read More

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http://dx.doi.org/10.1212/WNL.0000000000007500DOI Listing

Retinal oximetry: Metabolic imaging for diseases of the retina and brain.

Prog Retin Eye Res 2019 Apr 15. Epub 2019 Apr 15.

University of Iceland, Reykjavik, Iceland.

Retinal oximetry imaging of retinal blood vessels measures oxygen saturation of hemoglobin. The imaging technology is non-invasive and reproducible with remarkably low variability on test-retest studies and in healthy cohorts. Pathophysiological principles and novel biomarkers in several retinal diseases have been discovered, as well as possible applications for systemic and brain disease. Read More

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http://dx.doi.org/10.1016/j.preteyeres.2019.04.001DOI Listing
April 2019
3 Reads

Mapping of apparent susceptibility yields promising diagnostic separation of progressive supranuclear palsy from other causes of parkinsonism.

Sci Rep 2019 Apr 15;9(1):6079. Epub 2019 Apr 15.

Clinical Memory Research Unit, Department of Clinical Sciences, Lund University, 212 24, Malmö, Sweden.

There is a need for methods that distinguish Parkinson's disease (PD) from progressive supranuclear palsy (PSP) and multiple system atrophy (MSA), which have similar characteristics in the early stages of the disease. In this prospective study, we evaluate mapping of apparent susceptibility based on susceptibility weighted imaging (SWI) for differential diagnosis. We included 134 patients with PD, 11 with PSP, 10 with MSA and 44 healthy controls. Read More

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http://dx.doi.org/10.1038/s41598-019-42565-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465307PMC

Prevalence of and factors associated with postural deformities in Chinese patients with multiple system atrophy.

Parkinsonism Relat Disord 2019 Mar 27. Epub 2019 Mar 27.

Department of Neurology and National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China
. Electronic address:

Objective: The prevalence of postural deformities in patients with multiple system atrophy (MSA) has varied among previous studies. The objective of our study was to investigate the prevalence of and factors associated with postural deformities in Chinese MSA patients.

Methods: A total of 732 MSA patients were consecutively enrolled in the current study. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.024DOI Listing

Presynaptic striatal dopaminergic function in atypical parkinsonisms: A meta-analysis of imaging studies.

J Nucl Med 2019 Apr 12. Epub 2019 Apr 12.

University of Turku.

Multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) have overlapping signs and symptoms with Parkinson's disease (PD), and these similarities complicate their clinical diagnostics. Although presynaptic dopaminergic brain imaging with PET and SPECT is clinically widely used for patients with suspected PD, the benefit of functional imaging in atypical parkinsonism syndromes remains unclear. We compared striatal presynaptic dopaminergic function in MSA parkinsonism variant (MSA-P), MSA cerebellar variant (MSA-C), PSP, CBS and PD using combined quantitative data from all published studies. Read More

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http://dx.doi.org/10.2967/jnumed.119.227140DOI Listing

Binding of α-synuclein oligomers to Cx32 facilitates protein uptake and transfer in neurons and oligodendrocytes.

Acta Neuropathol 2019 Apr 11. Epub 2019 Apr 11.

Department of Clinical Pathology and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.

The intercellular transfer of alpha-synuclein (α-syn) has been implicated in the progression of Parkinson's disease (PD) and multiple system atrophy (MSA). The cellular mechanisms underlying this process are now beginning to be elucidated. In this study, we demonstrate that the gap junction protein connexin-32 (Cx32) is centrally involved in the preferential uptake of α-syn oligomeric assemblies (oα-syn) in neurons and oligodendrocytes. Read More

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http://dx.doi.org/10.1007/s00401-019-02007-xDOI Listing

Multiple system atrophy mimicked by multi-organ pathology.

Pract Neurol 2019 Apr 11. Epub 2019 Apr 11.

Department of Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK

Both multiple system atrophy and Parkinson's disease may present with parkinsonism and autonomic dysfunction. We describe a patient who initially met the diagnostic criteria for multiple system atrophy and had atypical features for Parkinson's disease including blackouts and pyramidal signs. Ultimately, he was found to have three separate diagnoses rather than a single unifying one. Read More

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http://pn.bmj.com/lookup/doi/10.1136/practneurol-2019-002233
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http://dx.doi.org/10.1136/practneurol-2019-002233DOI Listing
April 2019
2 Reads

TNFα inhibitors as targets for protective therapies in MSA: a viewpoint.

J Neuroinflammation 2019 Apr 11;16(1):80. Epub 2019 Apr 11.

Division of Clinical Neurobiology, Department of Neurology, Medical University of Innsbruck, Anichstraße 35, A-6020, Innsbruck, Austria.

Multiple system atrophy (MSA) is a unique and fatal α-synucleinopathy associated with oligodendroglial inclusions and secondary neurodegeneration affecting striatum, substantia nigra, pons, and cerebellum. The pathogenesis remains elusive; however, there is emerging evidence suggesting a prominent role of neuroinflammation. Here, we critically review the relationship between αS and microglial activation depending on its aggregation state and its role in neuroinflammation to explore the potential of TNFα inhibitors as a treatment strategy for MSA and other neurodegenerative diseases. Read More

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http://dx.doi.org/10.1186/s12974-019-1477-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458780PMC
April 2019
5.408 Impact Factor

The Shaking Palsy of the Larynx-Potential Biomarker for Multiple System Atrophy: A Pilot Study and Literature Review.

Front Neurol 2019 26;10:241. Epub 2019 Mar 26.

Hospital for Movement Disorders/Parkinson's Disease, Beelitz-Heilstätten, Germany.

In its early stages multiple system atrophy (MSA), a neurodegenerative movement disorder, can be difficult to differentiate from idiopathic Parkinson's disease (PD), and emphasis has been put on identifying premotor symptoms to allow for its early identification. The occurrence of vegetative symptoms in addition to motor impairment, such as orthostatic hypotension and neurogenic bladder dysfunction, enable the clinical diagnosis in the advanced stages of the disease. Usually with further disease progression, laryngeal abnormalities become clinically evident and can manifest in laryngeal stridor due to impaired vocal fold motion, such as vocal fold abduction restriction, mostly referred to as vocal fold paresis, or paradoxical vocal fold adduction during inspiration. Read More

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http://dx.doi.org/10.3389/fneur.2019.00241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443854PMC
March 2019
1 Read

Alterations in Striatal microRNA-mRNA Networks Contribute to Neuroinflammation in Multiple System Atrophy.

Mol Neurobiol 2019 Apr 9. Epub 2019 Apr 9.

Department of Neuroscience, University of California San Diego, 9500 Gilman Dr., MTF 344 MC0624, La Jolla, CA, 92093-0624, USA.

Multiple systems atrophy (MSA) is a rare neurodegenerative disorder characterized by the accumulation of α-synuclein in glial cells and neurodegeneration in the striatum, substantia nigra, and cerebellum. Aberrant miRNA regulation has been associated with neurodegeneration, including alterations of specific miRNAs in brain tissue, serum, and cerebrospinal fluid from MSA patients. Still, a causal link between deregulation of miRNA networks and pathological changes in the transcriptome remains elusive. Read More

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http://link.springer.com/10.1007/s12035-019-1577-3
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http://dx.doi.org/10.1007/s12035-019-1577-3DOI Listing
April 2019
1 Read

IL17A and IL17F genes polymorphisms are associated with histopathological changes in transplanted kidney.

BMC Nephrol 2019 Apr 8;20(1):124. Epub 2019 Apr 8.

Department of Physiology, Pomeranian Medical University in Szczecin, Powstancow Wlkp. 72, 70-111, Szczecin, Poland.

Background: Interleukin 17 is a proinflammatory cytokine involved in immune response after allograft transplantation. IL-17 family of proinflammatory cytokines includes IL-17A and IL-17F. Previous studies have demonstrated that the rs2275913 IL17A and the rs11465553 IL17F gene polymorphism are associated with kidney allograft function. Read More

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http://dx.doi.org/10.1186/s12882-019-1308-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454731PMC
April 2019
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Revision of Diagnosis in Early Parkinsonism with Abnormal Dopamine Transporter Imaging.

J Parkinsons Dis 2019 Apr 3. Epub 2019 Apr 3.

Department of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.

Background: In patients with early parkinsonism, misdiagnosis may occur in >30% of cases. This can have detrimental consequences clinically and in clinical trials. Dopamine transporter (DAT) SPECT imaging can help improve diagnostic accuracy. Read More

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http://dx.doi.org/10.3233/JPD-181517DOI Listing
April 2019
2 Reads

Establishment of a novel mesial temporal lobe epilepsy rhesus monkey model via intra-hippocampal and intra-amygdala kainic acid injection assisted by neurosurgical robot system.

Brain Res Bull 2019 Apr 4;149:32-41. Epub 2019 Apr 4.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, China; Department of Functional Neurosurgery, Beijing Neurosurgical Institute, Capital Medical University, Beijing, 100070, China; Beijing Key Laboratory of Neurostimulation, Beijing, 100070, China. Electronic address:

Background: Mesial temporal lobe epilepsy (mTLE) is the most common type of refractory epilepsy, and non-human primate (NHP) models are important to investigate its mechanism and therapy. However, previous mTLE-NHP models have some defects.

Methods: Thirteen rhesus monkeys were randomly assigned to a control group and epilepsy group. Read More

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http://dx.doi.org/10.1016/j.brainresbull.2019.04.002DOI Listing
April 2019
2 Reads

Investigating Fast Mapping Task Components: No Evidence for the Role of Semantic Referent nor Semantic Inference in Healthy Adults.

Front Psychol 2019 19;10:394. Epub 2019 Mar 19.

Medical Research Council Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom.

Fast mapping (FM) is an incidental learning process that is hypothesized to allow rapid, cortical-based memory formation, independent of the normal, hippocampally dependent episodic memory system. It is believed to underlie the rapid vocabulary learning in infants that occurs separately from intentional memorisation strategies. Interest in adult FM learning was stimulated by a report in which adults with amnesia following hippocampal damage showed a normal ability to learn new object-name associations after an incidental FM task, despite their impaired memory under a conventional intentional memorization task. Read More

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http://dx.doi.org/10.3389/fpsyg.2019.00394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434773PMC
March 2019
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Does peripheral inflammation contribute to multiple system atrophy?

Parkinsonism Relat Disord 2019 Mar 27. Epub 2019 Mar 27.

Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.020DOI Listing
March 2019
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Alpha-Synuclein in Skin Nerve Fibers as a Biomarker for Alpha-Synucleinopathies.

J Clin Neurol 2019 Apr;15(2):135-142

Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.

The common pathological features of synucleinopathies are abnormal aggregates of the synaptic protein alpha-synuclein (αSN) in the cytoplasm of neurons or glia. These abnormal aggregates appear several years before the onset of clinical manifestations, and so the early detection of αSN in body fluids or peripheral tissues (e.g. Read More

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http://dx.doi.org/10.3988/jcn.2019.15.2.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444158PMC
April 2019
1 Read

An emerging role of dysfunctional axon-oligodendrocyte coupling in neurodegenerative diseases.

Dialogues Clin Neurosci 2018 12;20(4):283-292

Department of Neurogenetics, Max Planck Institute of Experimental Medicine, Gottingen, Germany.

Myelin is made by highly specialized glial cells and enables fast axonal impulse propagation. Recent studies show that oligodendrocytes in the central nervous system are, in addition to myelination, required for the integrity and survival of axons, independent of the presence or absence of myelin itself. The underlying mechanism of this support is given by glycolytic oligodendrocytes which provide axons with energy-rich metabolites. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436955PMC
December 2018
4 Reads

Multiple rib fractures due to dystonia in a multiple system atrophy-Parkinsonian patient.

Rev Neurol (Paris) 2019 Mar 29. Epub 2019 Mar 29.

Department of neurophysiology, Rouen university hospital-Charles-Nicolle, 76000 Rouen, France.

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http://dx.doi.org/10.1016/j.neurol.2018.08.009DOI Listing
March 2019
4 Reads

Differences in the intra-cerebellar connections and graph theoretical measures between Parkinson's disease and multiple system atrophy.

J Neurol Sci 2019 May 25;400:129-134. Epub 2019 Mar 25.

Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

Background And Purpose: Parkinson's disease (PD) does not present with motor symptoms until dopaminergic neuronal loss exceeds 50%. This might indicate that a network-level compensatory mechanism involving surviving regions in PD acts to reduce brain abnormalities. In contrast, there is no evidence of a compensatory mechanism in multiple system atrophy (MSA). Read More

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http://dx.doi.org/10.1016/j.jns.2019.03.022DOI Listing
May 2019
2 Reads

Degenerative and acquired sporadic adult onset ataxia.

Neurol Sci 2019 Mar 29. Epub 2019 Mar 29.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

The diagnosis of sporadic adult onset ataxia is a challenging task since a large collection of hereditary and non-hereditary disorders should be taken into consideration. Sporadic adult onset ataxias include degenerative non-hereditary, hereditary, and acquired ataxias. Multiple system atrophy and idiopathic late cerebellar ataxia are degenerative non-hereditary ataxias. Read More

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http://dx.doi.org/10.1007/s10072-019-03856-wDOI Listing
March 2019
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Morphometric MRI profiles of multiple system atrophy variants and implications for differential diagnosis.

Mov Disord 2019 Mar 28. Epub 2019 Mar 28.

Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.

Background: Manual width measurements of the middle cerebellar peduncle on MRI were shown to improve the accuracy of an imaging-guided diagnosis of multiple system atrophy (MSA). Recently, automated volume segmentation algorithms were able to reliably differentiate patients with Parkinson's disease (PD) and the parkinsonian variant of MSA. The objective of the current study was to integrate probabilistic information of the middle cerebellar peduncle into an existing MRI atlas for automated subcortical segmentation and to evaluate the diagnostic properties of the novel atlas for the differential diagnosis of MSA (parkinsonian and cerebellar variant) versus PD. Read More

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http://dx.doi.org/10.1002/mds.27669DOI Listing
March 2019
1 Read
5.680 Impact Factor

A mouse model of adult-onset multiple system atrophy.

Neurobiol Dis 2019 Mar 23;127:339-349. Epub 2019 Mar 23.

Department of Neuropathology, Institute of Brain Science, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan.

Multiple system atrophy (MSA) is an adult-onset neurodegenerative disorder clinically characterized by autonomic failure in addition to various combinations of symptoms of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. Despite extensive research, the mechanisms underlying the progression of MSA remain unknown. Animal models of human diseases that recapitulate their clinical, biochemical and pathological features are indispensable for increasing our understanding of their underlying molecular mechanisms, which allows preclinical studies to be advanced. Read More

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http://dx.doi.org/10.1016/j.nbd.2019.03.020DOI Listing
March 2019
2 Reads

Emerging of Explosive Speech after Olanzapine in Multiple System Atrophy Patient.

Dement Neurocogn Disord 2018 Mar 26;17(1):37-40. Epub 2018 Mar 26.

Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea.

Background: Cerebellum has an important role in sensorimotor control including speech. Multiple system atrophy (MSA) is a sporadic and rapidly progressive neurodegenerative disorder that presents with autonomic failure in combination with Parkinsonism or cerebellar ataxia.

Case Report: We report a case of MSA-cerebellum subtype associated with emergence of irreversible explosive speech following olanzapine therapy. Read More

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http://dx.doi.org/10.12779/dnd.2018.17.1.37DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6427994PMC
March 2018
2 Reads

Neuropathological changes and cognitive deficits in rats transgenic for human mutant tau recapitulate human tauopathy.

Neurobiol Dis 2019 Mar 21;127:323-338. Epub 2019 Mar 21.

Department of Anatomy and Cell Biology, McGill University, Montréal, QC H3A 0C7, Canada; Department of Pharmacology and Therapeutics, McGill University, Montréal, QC H3G 1Y6, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 2B4, Canada. Electronic address:

The assembly of tau protein into abnormal filaments and brain cell degeneration are characteristic of a number of human neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia and parkinsonism linked to chromosome 17. Several murine models have been generated to better understand the mechanisms contributing to tau assembly and neurodegeneration. Taking advantage of the more elaborate central nervous system and higher cognitive abilities of the rat, we generated a model expressing the longest human tau isoform (2N4R) with the P301S mutation. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09699961193007
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http://dx.doi.org/10.1016/j.nbd.2019.03.018DOI Listing
March 2019
4 Reads

Serum insulin-like growth factor-1 levels in neurodegenerative diseases.

Acta Neurol Scand 2019 Mar 23. Epub 2019 Mar 23.

Department of Neurology, Dokkyo Medical University, Mibu, Japan.

Background: We investigated serum insulin-like growth factor (IGF)-1 levels in patients with neurodegenerative diseases and correlated these levels with clinical parameters.

Methods: One hundred and fifty-six patients with neurodegenerative diseases were included in this study, and serum IGF-1 levels were determined.

Results: Serum IGF-1 levels (mean ± standard error) were not significantly different among the patients with different neurodegenerative diseases: Parkinson's disease (PD; n = 73), 112. Read More

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http://dx.doi.org/10.1111/ane.13091DOI Listing
March 2019
1 Read

The aggregation state of α-synuclein deposits in dermal nerve fibers of patients with Parkinson's disease resembles that in the brain.

Parkinsonism Relat Disord 2019 Mar 9. Epub 2019 Mar 9.

Department of Neurology, University Hospital Würzburg, Josef-Schneider-Str. 11, 97080, Würzburg, Germany.

Introduction: Phosphorylated α-synuclein (p-α-syn) can be detected in dermal nerve fibers of patients with Parkinson's disease (PD) and multiple system atrophy (MSA). Here we investigated whether p-α-syn in the cutaneous nerve fibers represents misfolded aggregated protein.

Methods: Using immunofluorescence with conformation specific antibodies and digestion with proteinase K (PK), we studied skin biopsies from a cohort of patients with early stage PD (Hoehn and Yahr I/II, n=27), MSA with predominant parkinsonism (MSA-P, n=8) and normal controls (n=21). Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.003DOI Listing
March 2019
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Discriminative clinical and neuroimaging features of motor-predominant hereditary diffuse leukoencephalopathy with axonal spheroids and primary progressive multiple sclerosis: A preliminary cross-sectional study.

Mult Scler Relat Disord 2019 Mar 12;31:22-31. Epub 2019 Mar 12.

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address:

Background: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal-dominant white matter disease, typically characterized by juvenile cognitive decline and frontoparietal white matter lesions. A portion of HDLS patients exhibit preferential motor dysfunctions as their initial symptoms, mimicking multiple sclerosis (MS). However, there is no study comparing this phenotype of HDLS and primary progressive multiple sclerosis (PPMS), which greatly resemble each other. Read More

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http://dx.doi.org/10.1016/j.msard.2019.03.008DOI Listing
March 2019
2 Reads

Progression of Myopic Maculopathy in Highly Myopic Chinese Eyes.

Invest Ophthalmol Vis Sci 2019 Mar;60(4):1096-1104

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China.

Purpose: To evaluate the 2-year changes in myopic maculopathy and its associations in highly myopic eyes.

Methods: This was a longitudinal, observational cohort study involving 657 Chinese participants with bilateral high myopia (≤ -6.00 diopters spherical power), who were followed for 2 years. Read More

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http://dx.doi.org/10.1167/iovs.18-25800DOI Listing
March 2019
3.404 Impact Factor

Impairment of odor discrimination and identification is associated with disability progression and gray matter atrophy of the olfactory system in MS.

Mult Scler 2019 Mar 21:1352458519838205. Epub 2019 Mar 21.

Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria/Neuroimaging Research Core Facility, Medical University of Innsbruck, Innsbruck, Austria.

Background:: Impairment of odor discrimination (D), identification (I), and threshold (T) are characteristic features of multiple sclerosis (MS).

Objective:: To identify patterns of gray matter concentration (GMC) associated with different qualities of olfactory function.

Methods:: Olfactory function (T and combined DI score) was measured by Sniffin' Sticks-Test over 2 years longitudinally, and T1-weighted 3-T magnetic resonance imaging (MRI) was performed in 37 MS patients and 18 matched healthy controls (HCs). Read More

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http://dx.doi.org/10.1177/1352458519838205DOI Listing
March 2019
3 Reads

Ongoing Secondary Degeneration of the Limbic System in Patients With Ischemic Stroke: A Longitudinal MRI Study.

Front Neurol 2019 5;10:154. Epub 2019 Mar 5.

Institute for Stroke and Cerebrovascular Diseases, University of Texas Health Science Center at Houston, Houston, TX, United States.

Ongoing post-stroke structural degeneration and neuronal loss preceding neuropsychological symptoms such as cognitive decline and depression are poorly understood. Various substructures of the limbic system have been linked to cognitive impairment. In this longitudinal study, we investigated the post-stroke macro- and micro-structural integrity of the limbic system using structural and diffusion tensor magnetic resonance imaging. Read More

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http://dx.doi.org/10.3389/fneur.2019.00154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411642PMC
March 2019
1 Read

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA.

Front Mol Neurosci 2019 4;12:59. Epub 2019 Mar 4.

Edinburgh Medical School: Biomedical Sciences, The University of Edinburgh, Edinburgh, United Kingdom.

Activation of skeletal muscle in response to acetylcholine release from the neuromuscular junction triggered by motor neuron firing forms the basis of all mammalian locomotion. Intricate feedback and control mechanisms, both from within the central nervous system and from sensory organs in the periphery, provide essential inputs that regulate and finetune motor neuron activity. Interestingly, in motor neuron diseases, such as spinal muscular atrophy (SMA), pathological studies in patients have identified alterations in multiple parts of the sensory-motor system. Read More

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http://dx.doi.org/10.3389/fnmol.2019.00059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409332PMC
March 2019
10 Reads

The severity of motor dysfunctions and urinary dysfunction is not correlated in multiple system atrophy.

J Neurol Sci 2019 May 12;400:25-29. Epub 2019 Mar 12.

Department of Neurology, Chiba University Graduate School of Medicine, Chiba, Japan.

Objective: Although it is well known that patients with multiple system atrophy (MSA) cerebellar dominant type (MSA-C) show severe autonomic dysfunction, the relationship between autonomic and motor dysfunction remains uncertain. Previously we reported that severe urinary voiding dysfunction is useful in differential diagnosis of MSA and other diseases. Herein, we aimed to clarify the relationship between the severity of motor dysfunctions and urinary dysfunction. Read More

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http://dx.doi.org/10.1016/j.jns.2019.03.005DOI Listing
May 2019
2 Reads

Management of supine hypertension in patients with neurogenic orthostatic hypotension: scientific statement of the American Autonomic Society, European Federation of Autonomic Societies, and the European Society of Hypertension.

J Hypertens 2019 Mar 14. Epub 2019 Mar 14.

Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.

: Supine hypertension commonly occurs in patients with neurogenic orthostatic hypotension due to autonomic failure. Supine hypertension promotes nocturnal sodium excretion and orthostatic hypotension, thus, interfering with quality of life. Perusal of the literature on essential hypertension and smaller scale investigations in autonomic failure patients also suggest that supine hypertension may predispose to cardiovascular and renal disease. Read More

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http://dx.doi.org/10.1097/HJH.0000000000002078DOI Listing
March 2019
4.720 Impact Factor

Iron in Neurodegeneration - Cause or Consequence?

Front Neurosci 2019 1;13:180. Epub 2019 Mar 1.

Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

Iron dyshomeostasis can cause neuronal damage to iron-sensitive brain regions. Neurodegeneration with brain iron accumulation reflects a group of disorders caused by iron overload in the basal ganglia. High iron levels and iron related pathogenic triggers have also been implicated in sporadic neurodegenerative diseases including Alzheimer's disease (AD), Parkinson's disease (PD), and multiple system atrophy (MSA). Read More

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http://dx.doi.org/10.3389/fnins.2019.00180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405645PMC

Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes.

J Neurol Neurosurg Psychiatry 2019 Mar 13. Epub 2019 Mar 13.

Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.

Objective: The high degree of clinical overlap between atypical parkinsonian syndromes (APS) and Parkinson's disease (PD) makes diagnosis challenging. We aimed to identify novel diagnostic protein biomarkers of APS using multiplex proximity extension assay (PEA) testing.

Methods: Cerebrospinal fluid (CSF) samples from two independent cohorts, each consisting of APS and PD cases, and controls, were analysed for neurofilament light chain (NF-L) and Olink Neurology and Inflammation PEA biomarker panels. Read More

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http://dx.doi.org/10.1136/jnnp-2018-320151DOI Listing
March 2019
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Frequency and factors related to drooling in Chinese patients with multiple system atrophy: a cross-sectional study.

Clin Auton Res 2019 Mar 12. Epub 2019 Mar 12.

Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, 610041, Sichuan, People's Republic of China.

Purpose: Drooling is a common symptom of neurodegenerative diseases. We aimed to explore the frequency of drooling and its relationship to clinical features in a relatively large cohort of Chinese patients with multiple system atrophy (MSA).

Methods: We conducted a cross-sectional survey of 143 patients with MSA. Read More

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http://dx.doi.org/10.1007/s10286-019-00602-2DOI Listing
March 2019
2 Reads

Cardiac 123I-MIBG Scintigraphy in Neurodegenerative Parkinson Syndromes: Performance and Pitfalls in Clinical Practice.

Front Neurol 2019 26;10:152. Epub 2019 Feb 26.

Movement Disorders and Neuromodulation Section, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

Cardiac [I]metaiodobenzylguanidine scintigraphy (123I-MIBG), reflecting postganglionic cardiac autonomic denervation, is proposed for early detection of Parkinson's disease (PD; reduced tracer uptake) and separation from Multiple System Atrophy (MSA; preserved tracer uptake). However, several recent studies report on frequent unexpected 123I-MIBG results in PD and MSA. We sought to determine, whether 123I-MIBG is feasible to discriminate PD from MSA in unselected geriatric patients in clinical practice. Read More

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http://dx.doi.org/10.3389/fneur.2019.00152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399127PMC
February 2019
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Distinctive speech signature in cerebellar and parkinsonian subtypes of multiple system atrophy.

J Neurol 2019 Mar 11. Epub 2019 Mar 11.

Center for Neurodegenerative Diseases (CEMAND), Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Salerno, Italy.

Although motor speech disorders represent an early and prominent clinical feature of multiple system atrophy (MSA), the potential usefulness of speech assessment as a diagnostic tool has not yet been explored. This cross-sectional study aimed to provide a comprehensive, objective description of motor speech function in the parkinsonian (MSA-P) and cerebellar (MSA-C) variants of MSA. Speech samples were acquired from 80 participants including 18 MSA-P, 22 MSA-C, 20 Parkinson's disease (PD), and 20 healthy controls. Read More

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http://dx.doi.org/10.1007/s00415-019-09271-7DOI Listing
March 2019
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Progression of Oropharyngeal Dysphagia in Patients with Multiple System Atrophy.

Dysphagia 2019 Mar 9. Epub 2019 Mar 9.

Department of Rehabilitation Medicine, Seoul National University College of Medicine, Seoul National University Hospital, 101 Daehak-Ro, Jongno-gu, Seoul, 03080, Republic of Korea.

We investigated the progression of oropharyngeal dysphagia in patients with multiple system atrophy (MSA), with particular emphasis on MSA subtype variation. Fifty-nine MSA patients (31 MSA-P, 21 MSA-C, and 7 MSA-PC) who had undergone at least one videofluoroscopic swallowing study (VFSS) to evaluate dysphagia symptoms were included. Clinical data and VFSS findings were retrospectively evaluated using the videofluoroscopic dysphagia scale (VDS), and the results of each MSA subtype group were compared. Read More

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http://dx.doi.org/10.1007/s00455-019-09990-zDOI Listing
March 2019
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Skill Training Resulted in Improved Swallowing in a Person with Multiple System Atrophy: An Endoscopy Study.

Mov Disord Clin Pract 2018 Jul-Aug;5(4):451-452. Epub 2018 May 15.

Laboratory for the Study of Upper Airway Dysfunction Columbia University Teachers College New York NY USA.

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http://dx.doi.org/10.1002/mdc3.12628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336184PMC

Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.

Sci Rep 2019 Mar 5;9(1):3539. Epub 2019 Mar 5.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Spinal and bulbar muscular atrophy (SBMA) results from a CAG repeat expansion within the androgen receptor gene (AR). It is unclear why motor neurons selectively degenerate and there are currently no treatments for this debilitating disease. To uncover the causative genes and pathways involved in motor neuron dysfunction, we undertook transcriptomic profiling of primary embryonic motor neurons from SBMA mice. Read More

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http://dx.doi.org/10.1038/s41598-019-40118-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401132PMC
March 2019
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Speculating the timing of iron deposition in the putamen in multiple system atrophy.

Parkinsonism Relat Disord 2019 Feb 22. Epub 2019 Feb 22.

Department of Neurology, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea. Electronic address:

Background & Objective: Although iron accumulation is thought to be associated with neurodegenerative processes, the timing of putaminal iron deposition during the disease course of multiple system atrophy (MSA) remains unclear. We sought to investigate the temporal pattern of iron deposition in the putamen of MSA patients by calculating the conditional probabilities (CPs) of multimodal MRI changes.

Methods: We simultaneously measured putaminal R2*, volume and MD values of 39 probable MSA patients and 22 control subjects. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S13538020193007
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http://dx.doi.org/10.1016/j.parkreldis.2019.02.030DOI Listing
February 2019
12 Reads

Cockayne syndrome in adults: complete retinal dysfunction exploration of two case reports.

Doc Ophthalmol 2019 Feb 28. Epub 2019 Feb 28.

Institut Clínic d'Oftalmologia (ICOF), Hospital Clínic, Sabino de Arana St. (Casa Maternidad, 2nd floor), 08028, Barcelona, Spain.

Purpose: Cockayne syndrome is a rare autosomal recessive disease, also known as a progeria disorder, causing dwarfism, senile appearance and multiple systemic affections. Ophthalmic abnormalities are frequent, for example, in the forms of pigmentary retinopathy with low visual acuity. We present two genetic-confirmed cases with a detailed electrophysiological exploration of their retinal findings. Read More

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http://dx.doi.org/10.1007/s10633-019-09681-yDOI Listing
February 2019
1 Read

Cerebrospinal Fluid and Plasma Biomarkers in Neurodegenerative Diseases.

J Alzheimers Dis 2019 ;68(1):395-404

Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

Cerebrospinal fluid (CSF) amyloid-β (Aβ)42 and tau are biomarkers for Alzheimer's disease (AD); however, the effects of other neurodegenerative processes on these biomarkers remain unclear. We measured Aβ40, Aβ42, total tau, phosphorylated-tau, and α-synuclein in CSF and plasma using matched samples from various neurodegenerative diseases to expand our basic knowledge on these biomarkers and their practical applications. A total of 213 CSF and 183 plasma samples were analyzed from cognitively unimpaired subjects, and patients with Alzheimer's disease dementia (ADD), mild cognitive impairment (MCI), non-AD dementias, and other neurological diseases. Read More

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http://dx.doi.org/10.3233/JAD-181152DOI Listing
January 2019
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Serum NFL discriminates Parkinson disease from atypical parkinsonisms.

Neurology 2019 Mar 27;92(13):e1479-e1486. Epub 2019 Feb 27.

From the Department of Neurology (T.M.M., A.v.R., H.B.K., R.A.J.E., B.R.B., M.M.V.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen; Department of Laboratory Medicine (T.M.M., H.B.K., M.M.V.), Radboud University Medical Center, Nijmegen; Parkinson Center Nijmegen (T.M.M., A.v.R., R.A.J.E., B.R.B., M.M.V.), the Netherlands; and Department of Neurology (P.O., M.O.), Ulm University Hospital, Germany.

Objective: To investigate the diagnostic value of serum neurofilament light chain (NFL) in patients with clear signs of parkinsonism but whose specific diagnosis was yet uncertain.

Methods: Serum samples were collected from patients with clear signs of parkinsonism but with uncertain diagnosis at the inclusion. Clinical diagnoses of Parkinson disease (PD) and atypical parkinsonism disorders (APDs) were established after 3 years of follow-up and updated again after a maximum of 12 years in case longer follow-up data were available. Read More

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http://dx.doi.org/10.1212/WNL.0000000000007179DOI Listing
March 2019
2 Reads