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Striatonigral Degeneration

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Genes to treat excitotoxicity ameliorate the symptoms of the disease in mice models of multiple system atrophy.

Micaela Johanna Glat, Nadia Stefanova, Gregor Karl Wenning, Daniel Offen,

Multiple system atrophy (MSA) is a sporadic neurodegenerative disorder characterized by striatonigral degeneration and olivopontocerebellar atrophy. The main hallmark of MSA is the aggregation of alpha-synuclein in oligodendrocytes, which contributes to the dysfunction and death of the oligodendrocytes, followed by neurodegeneration. Studies suggested that oxidative-excitatory pathway is associated with the ... Read more >>

J Neural Transm (Vienna) (Journal of neural transmission (Vienna, Austria : 1996))
[2020, 127(2):205-212]

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MSA: From basic mechanisms to experimental therapeutics.

Antonio Heras-Garvin, Nadia Stefanova,

Multiple system atrophy (MSA) is a rare and fatal neurodegenerative disorder characterized by rapidly progressive autonomic and motor dysfunction. Pathologically, MSA is mainly characterized by the abnormal accumulation of misfolded α-synuclein in the cytoplasm of oligodendrocytes, which plays a major role in the pathogenesis of the disease. Striatonigral degeneration and ... Read more >>

Parkinsonism Relat. Disord. (Parkinsonism & related disorders)
[2020, :]

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Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.

Shuang Liao, Tingting Chen, Ying Dai, Yanqin Wang, Fangrui Wu, Min Zhong,

BACKGROUND:VAC14 is a component of a trimolecular complex that tightly regulates the level of phosphatidylinositol 3,5-bisphosphate [PI (3,5) P2]. VAC14 pathogenic variants cause prominent vacuolation of neurons in basal ganglia of patients with childhood-onset striatonigral degeneration (SNDC). METHODS:We identified two siblings with SNDC. Whole-exome sequencing was performed for genetic molecular ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, 8(2):e1101]

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Longitudinal Change of DAT SPECT in Parkinson's Disease and Multiple System Atrophy.

Satoko Sakakibara, Rina Hashimoto, Taiji Katayama, Masakuni Kenjyo, Yuki Yokokawa, Yufuko Saito, Akihiro Hirakawa, Mizuki Ito, Tomohiko Nakamura, Kazuhiro Hara, Atsushi Hashizume, Ikuko Aiba, Akira Inukai, Masahisa Katsuno,

BACKGROUND:Both Parkinson's disease (PD) and multiple system atrophy (MSA) are neurodegenerative disorder affecting striatonigral system. Although various lines of evidence demonstrate that dopaminergic neuron degeneration emerges before the onset of motor symptoms in PD, preclinical/prodromal progression of neurodegeneration is far less understood in MSA. OBJECTIVE:The aim of this study was ... Read more >>

J Parkinsons Dis (Journal of Parkinson's disease)
[2020, 10(1):123-130]

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VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Gholson J Lyon, Elaine Marchi, Joseph Ekstein, Vardiella Meiner, Yoel Hirsch, Sholem Scher, Edward Yang, Darryl C De Vivo, Ricardo Madrid, Quan Li, Kai Wang, Andrea Haworth, Ilana Chilton, Wendy K Chung, Milen Velinov,

Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressing neurological disease present in two of six siblings with early childhood onset of severe progressive spastic paraparesis and learning disabilities. A homozygous mutation (c.2005G>T, p, V669L) was found in VAC14, and the clinical phenotype is consistent with ... Read more >>

Cold Spring Harb Mol Case Stud (Cold Spring Harbor molecular case studies)
[2019, 5(6):]

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Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.

Parneet Kaur, Gandham SriLakshmi Bhavani, Arun Raj, Katta Mohan Girisha, Anju Shukla,

VAC14-related disorders include two distinct phenotypes, striatonigral degeneration [MIM# 617054] and Yunis-Varon syndrome. Striatonigral degeneration is a recently described childhood onset dystonia caused by pathogenic variants in VAC14. It is characterized by a period of apparent normalcy followed by abrupt onset neuroregression, dystonia, involuntary movements and degenerative brain lesions involving ... Read more >>

J. Hum. Genet. (Journal of human genetics)
[2019, 64(12):1237-1242]

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Multiple System Atrophy With Predominant Striatonigral Degeneration and TAR DNA-Binding Protein of 43 kDa Pathology: An Unusual Variant of Multiple System Atrophy.

Lynda Nwabuobi, Darya Tomishon, Neil A Shneider, Stanley Fahn, Jean Paul Vonsattel, Etty Cortes,

Background:The pathological hallmark in MSA is oligodendrocytic glial cytoplasmic inclusions (GCIs) containing α-synuclein, in addition to neuronal loss and astrogliosis especially involving the striatonigral and olivopontocerebellar systems. Rarely, TAR DNA-binding protein of 43 kDa (TDP-43), a component of ubiquitinated inclusions observed mainly in amyotrophic lateral sclerosis and frontotemporal lobar degeneration ... Read more >>

Mov Disord Clin Pract (Movement disorders clinical practice)
[2019, 6(8):661-666]

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High-salt diet does not boost neuroinflammation and neurodegeneration in a model of α-synucleinopathy.

Antonio Heras-Garvin, Violetta Refolo, Markus Reindl, Gregor K Wenning, Nadia Stefanova,

AIM:Pre-clinical studies in models of multiple sclerosis and other inflammatory disorders suggest that high-salt diet may induce activation of the immune system and potentiate inflammation. However, high-salt diet constitutes a common non-pharmacological intervention to treat autonomic problems in synucleinopathies such as Parkinson's disease and multiple system atrophy. Since neuroinflammation plays ... Read more >>

J Neuroinflammation (Journal of neuroinflammation)
[2020, 17(1):35]

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Systemic lupus erythematosus in a patient with multiple system atrophy: A case report.

Dimitrios Pilalas, Georgios Chatzopoulos, Georgia D Kaiafa, Eleftheria Ztriva, Soultana Spyridonakou, Vasiliki Bisbinas, Panagiotis Ioannidis, Apostolos I Hatzitolios, Christos Savopoulos,

RATIONALE:Multiple system atrophy is a late-onset rare neurodegenerative movement disorder which results in debilitating disease. Fever frequently ensues in the context of infections which can be associated with significant morbidity and mortality, but among alternative diagnostic possibilities neoplasms and autoimmune disorders should be considered. PATIENT CONCERNS:We describe a case of ... Read more >>

Medicine (Baltimore) (Medicine)
[2019, 98(46):e18005]

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Phosphorylated Alpha-Synuclein in Red Blood Cells as a Potential Diagnostic Biomarker for Multiple System Atrophy: A Pilot Study.

Xu-Ying Li, Weiwei Yang, Xin Li, Xu-Ran Li, Wei Li, Qihan Song, Linjuan Sun, Feng Lin, Zhigang Chen, Chaodong Wang, Shun Yu,

Diagnosis of multiple system atrophy (MSA) remains a challenge, due to the complexity and overlapping of its symptoms with other Parkinsonian disorders. The critical role of alpha-synuclein (α-syn) in the pathogenesis of MSA makes it an ideal biomarker for the diagnosis of MSA. Although α-syn alterations in cerebrospinal fluid (CSF) ... Read more >>

Parkinsons Dis (Parkinson's disease)
[2020, 2020:8740419]

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A case of multiple system atrophy.

Jing Guo, Fuying Liu, Tingting Liu, Xin Zhang, Yong Luo,

J. Int. Med. Res. (The Journal of international medical research)
[2019, 47(11):5839-5843]

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Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.

Diego Perez-Rodriguez, Maria Kalyva, Melissa Leija-Salazar, Tammaryn Lashley, Maxime Tarabichi, Viorica Chelban, Steve Gentleman, Lucia Schottlaender, Hannah Franklin, George Vasmatzis, Henry Houlden, Anthony H V Schapira, Thomas T Warner, Janice L Holton, Zane Jaunmuktane, Christos Proukakis,

Synucleinopathies are mostly sporadic neurodegenerative disorders of partly unexplained aetiology, and include Parkinson's disease (PD) and multiple system atrophy (MSA). We have further investigated our recent finding of somatic SNCA (α-synuclein) copy number variants (CNVs, specifically gains) in synucleinopathies, using Fluorescent in-situ Hybridisation for SNCA, and single-cell whole genome sequencing ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2019, 7(1):219]

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Differentiation of multiple system atrophy from Parkinson's disease by structural connectivity derived from probabilistic tractography.

Alexandra Abos, Hugo C Baggio, Barbara Segura, Anna Campabadal, Carme Uribe, Darly Milena Giraldo, Alexandra Perez-Soriano, Esteban Muñoz, Yaroslau Compta, Carme Junque, Maria Jose Marti,

Recent studies combining diffusion tensor-derived metrics and machine learning have shown promising results in the discrimination of multiple system atrophy (MSA) and Parkinson's disease (PD) patients. This approach has not been tested using more complex methodologies such as probabilistic tractography. The aim of this work is assessing whether the strength ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):16488]

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L-dopa response pattern in a rat model of mild striatonigral degeneration.

Christine Kaindlstorfer, Nadia Stefanova, Joanna Garcia, Florian Krismer, Máté Döbrössy, Georg Göbel, Kurt Jellinger, Roberta Granata, Gregor Karl Wenning,

BACKGROUND:Unresponsiveness to dopaminergic therapies is a key feature in the diagnosis of multiple system atrophy (MSA) and a major unmet need in the treatment of MSA patients caused by combined striatonigral degeneration (SND). Transgenic, alpha-synuclein animal models do not recapitulate this lack of levodopa responsiveness. In order to preclinically study ... Read more >>

PLoS ONE (PloS one)
[2019, 14(6):e0218130]

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Young-onset multiple system atrophy: Its rarity and heterogeneity.

Han-Joon Kim, Beomseok Jeon,

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(7):1085-1086]

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Models of multiple system atrophy.

He-Jin Lee, Diadem Ricarte, Darlene Ortiz, Seung-Jae Lee,

Multiple system atrophy (MSA) is a neurodegenerative disease with diverse clinical manifestations, including parkinsonism, cerebellar syndrome, and autonomic failure. Pathologically, MSA is characterized by glial cytoplasmic inclusions in oligodendrocytes, which contain fibrillary forms of α-synuclein. MSA is categorized as one of the α-synucleinopathy, and α-synuclein aggregation is thought to be ... Read more >>

Exp. Mol. Med. (Experimental & molecular medicine)
[2019, 51(11):1-10]

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Alterations of the Gut Microbiota in Multiple System Atrophy Patients.

Linlin Wan, Xin Zhou, Chunrong Wang, Zhao Chen, Huirong Peng, Xuan Hou, Yun Peng, Puzhi Wang, Tianjiao Li, Hongyu Yuan, Yuting Shi, Xiaocan Hou, Keqin Xu, Yue Xie, Lang He, Kun Xia, Beisha Tang, Hong Jiang,

Multiple system atrophy (MSA) is a fatal neurodegenerative disease, and the pathogenesis is still quite challenging. Emerging evidence has shown that the brain-gut-microbiota axis served a pivotal role in neurological diseases; however, researches utilizing metagenomic sequencing to analyze the alteration in gut microbiota of MSA patients were quite rare. Here, ... Read more >>

Front Neurosci (Frontiers in neuroscience)
[2019, 13:1102]

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Luminescent conjugated oligothiophenes distinguish between α-synuclein assemblies of Parkinson's disease and multiple system atrophy.

Therése Klingstedt, Bernardino Ghetti, Janice L Holton, Helen Ling, K Peter R Nilsson, Michel Goedert,

Synucleinopathies [Parkinson's disease with or without dementia, dementia with Lewy bodies and multiple system atrophy] are neurodegenerative diseases that are defined by the presence of filamentous α-synuclein inclusions. We investigated the ability of luminescent conjugated oligothiophenes to stain the inclusions of Parkinson's disease and multiple system atrophy. They stained the ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2019, 7(1):193]

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Understanding the pathogenesis of multiple system atrophy: state of the art and future perspectives.

Giacomo Monzio Compagnoni, Alessio Di Fonzo,

Multiple System Atrophy (MSA) is a severe neurodegenerative disease clinically characterized by parkinsonism, cerebellar ataxia, dysautonomia and other motor and non-motor symptoms.Although several efforts have been dedicated to understanding the causative mechanisms of the disease, MSA pathogenesis remains widely unknown.The aim of the present review is to describe the state ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2019, 7(1):113]

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Managing Parkinson's disease: moving ON with NOP.

Daniela Mercatelli, Erwan Bezard, Roberto Eleopra, Nurulain T Zaveri, Michele Morari,

The opioid-like neuropeptide nociceptin/orphanin FQ (N/OFQ) and its receptor (NOP receptor) contribute to Parkinson's disease (PD) and motor complications associated with levodopa therapy. The N/OFQ-NOP receptor system is expressed in cortical and subcortical motor areas and, notably, in dopaminergic neurons of the substantia nigra compacta. Dopamine depletion, as in rodent ... Read more >>

Br. J. Pharmacol. (British Journal of Pharmacology)
[2020, 177(1):28-47]

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Induced pluripotent stem cells in multiple system atrophy: recent developments and scientific challenges.

Alain Ndayisaba, Marcos Herrera-Vaquero, Gregor K Wenning, Nadia Stefanova,

Multiple system atrophy (MSA) is a rare and fatal neurodegenerative disease, with no known genetic cause to date. Oligodendroglial α-synuclein accumulation, neuroinflammation, and early myelin dysfunction are hallmark features of the disease and have been modeled in part in various preclinical models of MSA, yet the pathophysiology of MSA remains ... Read more >>

Clin. Auton. Res. (Clinical autonomic research : official journal of the Clinical Autonomic Research Society)
[2019, 29(4):385-395]

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Morphometric MRI profiles of multiple system atrophy variants and implications for differential diagnosis.

Florian Krismer, Klaus Seppi, Georg Göbel, Ruth Steiger, Isabel Zucal, Sylvia Boesch, Elke R Gizewski, Gregor K Wenning, Werner Poewe, Christoph Scherfler,

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 ... Read more >>

Mov. Disord. (Movement disorders : official journal of the Movement Disorder Society)
[2019, 34(7):1041-1048]

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Epigallocatechin gallate in multiple system atrophy (PROMESA).

Kurt A Jellinger,

Ann Transl Med (Annals of translational medicine)
[2019, 7(Suppl 8):S278]

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SNPs rs11240569, rs708727, and rs823156 in SLC41A1 Do Not Discriminate Between Slovak Patients with Idiopathic Parkinson's Disease and Healthy Controls: Statistics and Machine-Learning Evidence.

Michal Cibulka, Maria Brodnanova, Marian Grendar, Milan Grofik, Egon Kurca, Ivana Pilchova, Oto Osina, Zuzana Tatarkova, Dusan Dobrota, Martin Kolisek,

Gene SLC41A1 (A1) is localized within Parkinson's disease-(PD)-susceptibility locus PARK16 and encodes for the Na+/Mg2+-exchanger. The association of several A1 SNPs with PD has been studied. Two, rs11240569 and rs823156, have been associated with reduced PD-susceptibility primarily in Asian populations. Here, we examined the association of rs11240569, rs708727, and rs823156 ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2019, 20(19):]

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Comparative analyses of the in vivo induction and transmission of α-synuclein pathology in transgenic mice by MSA brain lysate and recombinant α-synuclein fibrils.

Jess-Karan S Dhillon, Jorge A Trejo-Lopez, Cara Riffe, Yona Levites, Amanda N Sacino, David R Borchelt, Anthony Y Yachnis, Benoit I Giasson,

α-synuclein (αS) is the major component of several types of brain pathological inclusions that define neurodegenerative diseases termed synucleinopathies. Central nervous system (CNS) inoculation studies using either in vitro polymerized αS fibrils or in vivo derived lysates containing αS aggregates to induce the progressive spread of αS inclusion pathology in ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2019, 7(1):80]

Cited: 2 times

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