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movement and neurodegeneration

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https://www.readbyqxmd.com/read/29767814/inborn-errors-of-coenzyme-a-metabolism-and-neurodegeneration
#1
Ivano Di Meo, Miryam Carecchio, Valeria Tiranti
Two inborn errors of coenzyme A (CoA) metabolism are responsible for distinct forms of neurodegeneration with brain iron accumulation (NBIA), a heterogeneous group of neurodegenerative diseases having as a common denominator iron accumulation mainly in the inner portion of globus pallidus. Pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA and is caused by mutations in the pantothenate kinase 2 gene (PANK2), coding for a mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway...
May 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29756356/neuroimaging-abnormalities-in-individuals-exhibiting-parkinson-s-disease-risk-markers
#2
Marcus Heldmann, Janna Heeren, Christine Klein, Linus Rauch, Johann Hagenah, Thomas F Münte, Meike Kasten, Norbert Brüggemann
BACKGROUND: The concept of prodromal Parkinson's disease (PD) involves variable combinations of nonmotor features and subtle motor abnormalities as a result of ongoing neurodegeneration in the brain stem including substantia nigra (SN) and abnormal findings upon transcranial sonography and nuclear imaging. Except for nuclear imaging, the predictive value of risk markers for the conversion to overt PD is low. OBJECTIVE: The objective of this study was to determine whether PD risk markers are associated with changes in brain structure and to what extent cognitive changes are risk markers for PD...
May 14, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29735110/psychiatric-treatment-and-management-of-psychiatric-comorbidities-of-movement-disorders
#3
Kelda Harris Walsh, Katherine Soe, Shivali Sarawgi
Pediatric movement disorders may present with psychiatric symptoms at many points during the course of the disease. For the relatively common pediatric movement disorder, Tourette syndrome, psychiatric comorbidities are well-described and treatment is well-studied. Managing these comorbidities may be more effective than improving the movements themselves. For more uncommon movement disorders, such as juvenile-onset Huntington disease, treatment of psychiatric comorbidities is not well-characterized, and best-practice recommendations are not available...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29683523/white-matter-degeneration-profile-in-the-cognitive-cortico-subcortical-tracts-in-parkinson-s-disease
#4
Alexandru Hanganu, Jean-Christophe Houde, Vladimir S Fonov, Clotilde Degroot, Beatriz Mejia-Constain, Anne-Louise Lafontaine, Valérie Soland, Sylvain Chouinard, Louis D Collins, Maxime Descoteaux, Oury Monchi
BACKGROUND: In Parkinson's disease cognitive impairment is an early nonmotor feature, but it is still unclear why some patients are able to maintain their cognitive performance at normal levels, as quantified by neuropsychological tests, whereas others cannot. The objectives of this study were to perform a cross-sectional study and analyze the white matter changes in the cognitive and motor bundles in patients with Parkinson's disease. METHODS: Sixteen Parkinson's disease patients with normal cognitive performance, 19 with mild cognitive impairment (based on their performance of 1...
April 23, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29653138/neuroprotective-action-of-4-hydroxyisophthalic-acid-against-paraquat-induced-motor-impairment-involves-amelioration-of-mitochondrial-damage-and-neurodegeneration-in-drosophila
#5
Niveditha S, T Shivanandappa
Neurodegenerative disorders including Parkinson's disease (PD) are believed to be caused by oxidative stress and mitochondrial dysfunction. Exposure to environmental agents such as pesticides has been implicated in the etiology of sporadic PD. Paraquat (PQ), a widely used herbicide, induces PD symptoms in laboratory animals including Drosophila. PQ acts as a free radical generator and induces oxidative damage, which is implicated in neuronal cell death. Drosophila model of PQ-induced PD offers a convenient tool for mechanistic studies and, to assess the neuroprotective potential of natural antioxidants...
April 10, 2018: Neurotoxicology
https://www.readbyqxmd.com/read/29606605/investigation-of-non-motor-symptoms-in-first-degree-relatives-of-patients-with-parkinson-s-disease
#6
Jiang-Bing Liu, Jun-Ling Leng, Xin-Jiang Zhang, Zhao-Xia Wang, Zuo-Wei Duan, Cheng-Jie Mao, Chun-Feng Liu
OBJECTIVE: Non-motor symptoms (NMS) are important prodromal characteristics of Parkinson's disease (PD). However, the incidence of NMS in first-degree relatives, such as siblings of PD patients, is still unknown. METHODS: A total of 98 PD patients of the Affiliated Hospital of Yangzhou University were recruited; 210 siblings of these patients were included in a first-degree relatives (FDR) group and 250 healthy individuals were included in a control group. Various scales were used to assess NMS, including depression, anxiety, cognitive function, sleep status, constipation, daytime sleepiness, Rapid-Eye-Movement Sleep Behavior Disorder (RBD), and Restless Legs Syndrome (RLS)...
March 27, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29606351/a-huntingtin-knockin-pig-model-recapitulates-features-of-selective-neurodegeneration-in-huntington-s-disease
#7
Sen Yan, Zhuchi Tu, Zhaoming Liu, Nana Fan, Huiming Yang, Su Yang, Weili Yang, Yu Zhao, Zhen Ouyang, Chengdan Lai, Huaqiang Yang, Li Li, Qishuai Liu, Hui Shi, Guangqing Xu, Heng Zhao, Hongjiang Wei, Zhong Pei, Shihua Li, Liangxue Lai, Xiao-Jiang Li
Huntington's disease (HD) is characterized by preferential loss of the medium spiny neurons in the striatum. Using CRISPR/Cas9 and somatic nuclear transfer technology, we established a knockin (KI) pig model of HD that endogenously expresses full-length mutant huntingtin (HTT). By breeding this HD pig model, we have successfully obtained F1 and F2 generation KI pigs. Characterization of founder and F1 KI pigs shows consistent movement, behavioral abnormalities, and early death, which are germline transmittable...
March 23, 2018: Cell
https://www.readbyqxmd.com/read/29578490/frontotemporal-dementia-and-chorea-associated-with-a-compound-heterozygous-trem2-mutation
#8
Veronica Redaelli, Ettore Salsano, Lara Colleoni, Paola Corbetta, Giovanni Tringali, Angelo Del Sole, Giorgio Giaccone, Giacomina Rossi
Frontotemporal dementia (FTD) is clinically characterized by behavioral changes, language impairment, and executive dysfunction. FTD usually belongs to the frontotemporal lobar degeneration (FTLD) disease group, and its familial forms are dominantly inherited and linked to a group of genes relevant to frontal and temporal brain pathology, such as MAPT, GRN, C9ORF72, TARDBP, CHMP2B, VCP, and FUS. However, FTD can also be associated with different clinical or pathological phenotypes caused by mutations in other genes, whose heredity can be dominant or recessive...
March 23, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29578489/rem-sleep-behavior-disorder-and-alzheimer-s-disease-definitely-no-relationship
#9
Andrea Galbiati, Giulia Carli, Michael Hensley, Luigi Ferini-Strambi
Rapid eye movement (REM) sleep behavior disorder (RBD) is a REM sleep parasomnia characterized by the loss of the typical muscular atonia present during healthy REM sleep. RBD can occur in the absence of other neurological conditions or in association with a neurodegenerative disorder. It is now well established that RBD is a strong predictor of neurodegeneration, in particular synucleinopathies, such as Parkinson's disease, Lewy body dementia (LBD), or multiple system atrophy. However, some longitudinal studies report that a minority of patients develop either overlapping form of dementia or Alzheimer disease's (AD)...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29571955/eye-movement-parameters-and-cognitive-functions-in-parkinson-s-disease-patients-without-dementia
#10
Oscar Wh Wong, Anne Yy Chan, Adrian Wong, Claire Ky Lau, Jonas Hm Yeung, Vincent Ct Mok, Linda Cw Lam, Sandra Chan
BACKGROUND: Cognitive deficits and eye movement abnormalities have been demonstrated to be detectable early clinical manifestations of Parkinson's disease. Understanding the relationship between these phenotypes may yield insight into the underlying anatomical pathways, assisting in the search for simple non-invasive markers of early neurodegeneration. OBJECTIVE: To explore the correlations between eye movement parameters with multi-domain cognitive functions in patients suffering from Parkinson's disease without dementia...
March 15, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29527483/age-related-functional-brain-changes-in-fmr1-premutation-carriers
#11
Stephanie S G Brown, Shinjini Basu, Heather C Whalley, Peter C Kind, Andrew C Stanfield
The FMR1 premutation confers a 40-60% risk for males of developing a neurodegenerative disease called the Fragile X-associated Tremor Ataxia Syndrome (FXTAS). FXTAS is a late-onset disease that primarily involves progressive symptoms of tremor and ataxia, as well as cognitive decline that can develop into dementia in some patients. At present, it is not clear whether changes to brain function are detectable in motor regions prior to the onset of frank symptomatology. The present study therefore aimed to utilize an fMRI motor task for the first time in an asymptomatic premutation population...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29512464/insight-into-the-emerging-role-of-striatal-neurotransmitters-in-the-pathophysiology-of-parkinson-s-disease-and-huntington-s-disease-a-review
#12
Sumit Jamwal, Puneet Kumar
Alteration in neurotransmitters signaling in basal ganglia has been consistently shown to significantly contribute to the pathophysiological basis of Parkinson's disease and Huntington's disease. Dopamine is important neurotransmitter which play critical role in coordinated body movements. Alteration in level of brain dopamine and receptor radically contribute to irregular movements, glutamate mediated excitotoxic neuronal death and further leads to imbalance in the levels of other neurotransmitters viz. GABA, adenosine, acetylcholine and endocannabinoids...
March 1, 2018: Current Neuropharmacology
https://www.readbyqxmd.com/read/29508906/pedunculopontine-nucleus-cholinergic-deficiency-in-cervical-dystonia
#13
Karin Mente, Nancy A Edwards, Demelio Urbano, Abhik Ray-Chaudhury, Diego Iacono, Ana Tereza Di Lorenzo Alho, Eduardo Joaquim Lopes Alho, Edson Amaro, Silvina G Horovitz, Mark Hallett
BACKGROUND: The etiology of cervical dystonia is unknown. Cholinergic abnormalities have been identified in dystonia animal models and human imaging studies. Some animal models have cholinergic neuronal loss in the striatum and increased acetylcholinesterase activity in the pedunculopontine nucleus. OBJECTIVES: The objective of this study was to determine the presence of cholinergic abnormalities in the putamen and pedunculopontine nucleus in cervical dystonia human brain donors...
March 6, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29507872/optimizing-parkinson-s-disease-diagnosis-the-role-of-a-dual-nuclear-imaging-algorithm
#14
REVIEW
J William Langston, Jesse C Wiley, Michele Tagliati
The diagnosis of Parkinson's disease (PD) currently relies almost exclusively on the clinical judgment of an experienced neurologist, ideally a specialist in movement disorders. However, such clinical diagnosis is often incorrect in a large percentage of patients, particularly in the early stages of the disease. A commercially available, objective and quantitative marker of nigrostriatal neurodegeneration was recently provided by 123-iodine 123 I-ioflupane SPECT imaging, which is however unable to differentiate PD from a variety of other parkinsonian syndromes associated with striatal dopamine deficiency...
2018: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/29493044/an-overview-of-sleep-and-circadian-dysfunction-in-parkinson-s-disease
#15
REVIEW
Susanna Mantovani, Simon S Smith, Richard Gordon, John D O'Sullivan
Sleep and circadian alterations are amongst the very first symptoms experienced in Parkinson's disease, and sleep alterations are present in the majority of patients with overt clinical manifestation of Parkinson's disease. However, the magnitude of sleep and circadian dysfunction in Parkinson's disease, and its influence on the pathophysiology of Parkinson's disease remains often unclear and a matter of debate. In particular, the confounding influences of dopaminergic therapy on sleep and circadian dysfunction are a major challenge, and need to be more carefully addressed in clinical studies...
March 1, 2018: Journal of Sleep Research
https://www.readbyqxmd.com/read/29460073/progressive-supranuclear-palsy-and-idiopathic-parkinson-s-disease-are-associated-with-local-reduction-of-in-vivo-brain-viscoelasticity
#16
Axel Lipp, Cornelia Skowronek, Andreas Fehlner, Kaspar-Josche Streitberger, Jürgen Braun, Ingolf Sack
OBJECTIVES: To apply three-dimensional multifrequency MR-elastography (3DMRE) for the measurement of local cerebral viscoelasticity changes in patients with Parkinson's disease (PD) and progressive supranuclear palsy (PSP). METHODS: T1-weighted anatomical imaging and 3DMRE were performed in 17 PD and 20 PSP patients as well as 12 controls. Two independent viscoelasticity parameters, |G*| and φ, were reconstructed combining seven harmonic vibration frequencies (30-60 Hz)...
February 19, 2018: European Radiology
https://www.readbyqxmd.com/read/29454663/novel-pla2g6-mutations-and-clinical-heterogeneity-in-chinese-cases-with-phospholipase-a2-associated-neurodegeneration
#17
Yi-Jun Chen, Yu-Chao Chen, Hai-Lin Dong, Li-Xi Li, Wang Ni, Hong-Fu Li, Zhi-Ying Wu
INTRODUCTION: Phospholipase A2-associated neurodegeneration (PLAN) is an autosomal recessive movement disorder with abnormal iron deposition in basal ganglia, substantial nigra and adjacent areas, and cerebellar atrophy. It is caused by PLA2G6 mutations and comprises three phenotypes. We aimed to investigate genetic mutations in patients with predominantly extrapyramidal symptoms. METHODS: Eighteen Chinese patients with early onset of extrapyramidal symptoms were identified and underwent targeted next-generation sequencing, followed by Sanger sequencing...
April 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29442376/multiple-system-atrophy-and-apolipoprotein-e
#18
Kotaro Ogaki, Yuka A Martens, Michael G Heckman, Shunsuke Koga, Catherine Labbé, Oswaldo Lorenzo-Betancor, Anna I Wernick, Ronald L Walton, Alexandra I Soto, Emily R Vargas, Henrietta M Nielsen, Shinsuke Fujioka, Takahisa Kanekiyo, Ryan J Uitti, Jay A van Gerpen, William P Cheshire, Zbigniew K Wszolek, Phillip A Low, Wolfgang Singer, Dennis W Dickson, Guojun Bu, Owen A Ross
BACKGROUND: Dysregulation of the specialized lipid metabolism involved in myelin synthesis and maintenance by oligodendrocytes has been associated with the unique neuropathology of MSA. We hypothesized that apolipoprotein E, which is associated with neurodegeneration, may also play a role in the pathogenesis of MSA. OBJECTIVE: This study evaluated genetic associations of Apolipoprotein E alleles with risk of MSA and α-synuclein pathology, and also examined whether apolipoprotein E isoforms differentially affect α-synuclein uptake in a oligodendrocyte cell...
April 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29440694/mutations-in-the-drosophila-homolog-of-human-pla2g6-give-rise-to-age-dependent-loss-of-psychomotor-activity-and-neurodegeneration
#19
Konstantin G Iliadi, Oxana B Gluscencova, Natalia Iliadi, Gabrielle L Boulianne
Infantile neuroaxonal dystrophy (INAD) is a fatal neurodegenerative disorder that typically begins within the first few years of life and leads to progressive impairment of movement and cognition. Several years ago, it was shown that >80% of patients with INAD have mutations in the phospholipase gene, PLA2G6. Interestingly, mutations in PLA2G6 are also causative in two other related neurodegenerative diseases, atypical neuroaxonal dystrophy and Dystonia-parkinsonism. While all three disorders give rise to similar defects in movement and cognition, some defects are unique to a specific disorder...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29409688/classification-and-molecular-pathogenesis-of-nbia-syndromes
#20
REVIEW
Ivano Di Meo, Valeria Tiranti
Brain iron accumulation is the hallmark of a group of seriously invalidating and progressive rare diseases collectively denominated Neurodegeneration with Brain Iron Accumulation (NBIA), characterized by movement disorder, painful dystonia, parkinsonism, mental disability and early death. Currently there is no established therapy available to slow down or reverse the progression of these conditions. Several genes have been identified as responsible for NBIA but only two encode for proteins playing a direct role in iron metabolism...
March 2018: European Journal of Paediatric Neurology: EJPN
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