Database : MEDLINE
Search on : Basal and Ganglia and Diseases [Words]
References found : 11036 [refine]
Displaying: 1 .. 10   in format [Detailed]

page 1 of 1104 go to page                         

  1 / 11036 MEDLINE  
              next record last record
select
to print
Photocopy
Full text

[PMID]: 29451896
[Au] Autor:Ji H; Li D; Wu Y; Zhang Q; Gu Q; Xie H; Ji T; Wang H; Zhao L; Zhao H; Yang Y; Feng H; Xiong H; Ji J; Yang Z; Kou L; Li M; Bao X; Chang X; Zhang Y; Li L; Li H; Niu Z; Wu X; Xiao J; Jiang Y; Wang J
[Ad] Address:Department of Pediatrics, Peking University First Hospital, Beijing, China.
[Ti] Title:Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
[So] Source:PLoS One;13(2):e0188869, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population. METHODS: 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated based on their history, clinical manifestation, laboratory examinations, series of brain MRI with follow-up, genetic etiological tests including chromosomal analysis, multiplex ligation probe amplification, Sanger sequencing, targeted enrichment-based next-generation sequencing and whole exome sequencing. RESULTS: Clinical and genetic features of hypomyelinating disorders were revealed. Nine different hypomyelinating disorders were identified in 119 patients: Pelizaeus-Merzbacher disease (94, 79%), Pelizaeus-Merzbacher-like disease (10, 8%), hypomyelination with atrophy of the basal ganglia and cerebellum (3, 3%), GM1 gangliosidosis (5, 4%), GM2 gangliosidosis (3, 3%), trichothiodystrophy (1, 1%), Pol III-related leukodystrophy (1, 1%), hypomyelinating leukodystrophy type 9 (1, 1%), and chromosome 18q deletion syndrome (1, 1%). Of the sample, 94% (112/119) of the patients were genetically diagnosed, including 111 with mutations distributing across 9 genes including PLP1, GJC2, TUBB4A, GLB1, HEXA, HEXB, ERCC2, POLR3A, and RARS and 1 with mosaic chromosomal change of 46, XX,del(18)(q21.3)/46,XX,r(18)(p11.32q21.3)/45,XX,-18. Eighteen novel mutations were discovered. Mutations in POLR3A and RARS were first identified in Chinese patients with Pol III-related leukodystrophy and hypomyelinating leukodystrophy, respectively. SIGNIFICANCE: This is the first report on clinical and genetic features of hypomyelinating disorders with a large sample of patients in Chinese population, identifying 18 novel mutations especially mutations in POLR3A and RARS in Chinese patients, expanding clinical and genetic spectrums of hypomyelinating disorders.
[Mh] MeSH terms primary: Genetic Heterogeneity
Hereditary Central Nervous System Demyelinating Diseases/epidemiology
[Mh] MeSH terms secundary: China/epidemiology
Chromosome Banding
Female
Hereditary Central Nervous System Demyelinating Diseases/diagnostic imaging
Hereditary Central Nervous System Demyelinating Diseases/genetics
Hereditary Central Nervous System Demyelinating Diseases/pathology
Humans
Infant
Infant, Newborn
Karyotyping
Magnetic Resonance Imaging
Male
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180217
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0188869

  2 / 11036 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29376668
[Au] Autor:Filoteo JV; Maddox WT; Ashby FG
[Ad] Address:Veterans Administration San Diego Healthcare System.
[Ti] Title:Quantitative modeling of category learning deficits in various patient populations.
[So] Source:Neuropsychology;31(8):862-876, 2017 Nov.
[Is] ISSN:1931-1559
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To provide a select review of our applications of quantitative modeling to highlight the utility of such approaches to better understand the neuropsychological deficits associated with various neurologic and psychiatric diseases. METHOD: We review our work examining category learning in various patient populations, including individuals with basal ganglia disorders (Huntington's Disease and Parkinson's disease), amnesia and Eating Disorders. RESULTS: Our review suggests that the use of quantitative models has enabled a better understanding of the learning deficits often observed in these conditions and has allowed us to form novel hypotheses about the neurobiological bases of their deficits. CONCLUSIONS: We feel that the use of neurobiologically inspired quantitative modeling holds great promise in neuropsychological assessment and that future clinical measures should incorporate the use of such models as part of their standard scoring. Appropriate studies need to be completed, however, to determine whether such modeling techniques adhere to the rigorous psychometric properties necessary for a valid and reliable application in a clinical setting. (PsycINFO Database Record
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1037/neu0000422

  3 / 11036 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29311265
[Au] Autor:Duperron MG; Tzourio C; Sargurupremraj M; Mazoyer B; Soumaré A; Schilling S; Amouyel P; Chauhan G; Zhu YC; Debette S
[Ad] Address:From the Inserm, Bordeaux Population Health Research Center (M-G.D., C.T., M.S., A.S., S.S., G. C., S.D.) and Institut des Maladies Neurodégénératives, CNRS-CEA UMR 5293 (B.M.), University of Bordeaux, France; Pole de santé publique (C.T.) and Department of Neurology (S.D.), Centre Hospitalier Unive
[Ti] Title:Burden of Dilated Perivascular Spaces, an Emerging Marker of Cerebral Small Vessel Disease, Is Highly Heritable.
[So] Source:Stroke;49(2):282-287, 2018 02.
[Is] ISSN:1524-4628
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND AND PURPOSE: The genetic contribution to dilated perivascular space (dPVS) burden-an emerging MRI marker of cerebral small vessel disease-is unknown. We measured the heritability of dPVS burden and its shared heritability with other MRI markers of cerebral small vessel disease. METHODS: The study sample comprised 1597 participants from the population-based Three City (3C) Dijon Study, with brain MRI and genome-wide genotyping (mean age, 72.8±4.1 years; 61% women). dPVS burden and lacunar brain infarcts were rated on a semiquantitative scale, whereas an automated algorithm generated white matter hyperintensity volume (WMHV). We estimated dPVS burden heritability and shared heritability with WMHV and lacunar brain infarcts using the genome-wide complex trait analysis tool, on unrelated participants, adjusting for age, sex, intracranial volume, and principal components of population stratification. RESULTS: dPVS burden was significantly correlated with WMHV and lacunar brain infarcts, the strongest correlation being found between WMHV and dPVS in basal ganglia. Heritability estimates were h =0.59±0.24 ( =0.007) for dPVS burden, h =0.54±0.24 ( =0.010) for WMHV, and h =0.48±0.81 ( =0.278) for lacunar brain infarcts. We found a nonsignificant trend toward shared heritability between dPVS and WMHV (r =0.41±0.28; =0.096), which seemed driven by dPVS in basal ganglia (r =0.72±0.61; =0.126) and not dPVS in white matter (r =-0.10±0.36; =0.393). A genetic risk score for WMHV based on published loci was associated with increased dPVS burden in basal ganglia ( =0.031). CONCLUSIONS: We provide evidence for important genetic contribution to dPVS burden in older community-dwelling people, some of which may be shared with WMHV. Differential heritability patterns for dPVS in white matter and basal ganglia suggest at least partly distinct underlying biological processes.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process
[do] DOI:10.1161/STROKEAHA.117.019309

  4 / 11036 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29429571
[Au] Autor:Piekutowska-Abramczuk D; Assouline Z; Matakovic L; Feichtinger RG; Konariková E; Jurkiewicz E; Stawinski P; Gusic M; Koller A; Pollak A; Gasperowicz P; Trubicka J; Ciara E; Iwanicka-Pronicka K; Rokicki D; Hanein S; Wortmann SB; Sperl W; Rötig A; Prokisch H; Pronicka E; Ploski R; Barcia G; Mayr JA
[Ad] Address:Department of Medical Genetics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
[Ti] Title:NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
[So] Source:Am J Hum Genet;102(3):460-467, 2018 Mar 01.
[Is] ISSN:1537-6605
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Respiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic acidosis to Leigh syndrome and other encephalomyopathies or cardiomyopathies. To date, disease-causing variants in genes coding for 27 complex I subunits, including 7 mitochondrial DNA genes, and in 11 genes encoding complex I assembly factors have been reported. Here, we describe rare biallelic variants in NDUFB8 encoding a complex I accessory subunit revealed by whole-exome sequencing in two individuals from two families. Both presented with a progressive course of disease with encephalo(cardio)myopathic features including muscular hypotonia, cardiac hypertrophy, respiratory failure, failure to thrive, and developmental delay. Blood lactate was elevated. Neuroimaging disclosed progressive changes in the basal ganglia and either brain stem or internal capsule. Biochemical analyses showed an isolated decrease in complex I enzymatic activity in muscle and fibroblasts. Complementation studies by expression of wild-type NDUFB8 in cells from affected individuals restored mitochondrial function, confirming NDUFB8 variants as the cause of complex I deficiency. Hereby we establish NDUFB8 as a relevant gene in childhood-onset mitochondrial disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review

  5 / 11036 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29498008
[Au] Autor:Zhuang QX; Xu HT; Lu XJ; Li B; Yung WH; Wang JJ; Zhu JN
[Ad] Address:State Key Laboratory of Pharmaceutical Biotechnology and Department of Physiology, School of Life Sciences, Nanjing University, 163 Xianlin Avenue, Nanjing, 210023, China.
[Ti] Title:Histamine Excites Striatal Dopamine D1 and D2 Receptor-Expressing Neurons via Postsynaptic H1 and H2 Receptors.
[So] Source:Mol Neurobiol;, 2018 Mar 01.
[Is] ISSN:1559-1182
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The central histaminergic nervous system, originating from the tuberomammillary nucleus (TMN) of the hypothalamus, widely innervates almost the whole brain, including the basal ganglia. Intriguingly, the histaminergic system is altered in parkinsonian patients. Yet, little is known about the effect and mechanisms of histamine on different types of neurons in the basal ganglia circuitry. Here, by using anterograde tracing, immunostaining, patch clamp recording, and single-cell qPCR techniques, we investigate the histaminergic afferents in the striatum, the major input structure of the basal ganglia, as well as the effect of histamine on the striatal GABAergic medium spiny projection neurons (MSNs). We report a direct histaminergic projection from the hypothalamic TMN to the striatum in rats. Furthermore, histamine exerts a strong postsynaptic excitatory effect on both dopamine D1 and D2 receptor-expressing MSNs. The concentration-response curves and the EC values for histamine on these two types of MSNs are similar. In addition, dopamine D1 and D2 receptor-expressing MSNs co-express histamine H1 and H2 receptor mRNAs. Both histamine H1 and H2 receptors are co-localized on dopamine D1 and D2 receptor-expressing MSNs and co-mediate the histamine-induced excitation on the two types of neurons. These results suggest that the histaminergic afferent inputs in the striatum may modulate both dopamine D1 and D2 receptor-expressing MSNs by activation of postsynaptic histamine H1 and H2 receptors and thus serve as an important extrastriatal modulator for biasing the direct and indirect pathways to actively regulate functions of the basal ganglia and participate in the pathogenesis and pathophysiology of basal ganglia diseases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:Publisher
[do] DOI:10.1007/s12035-018-0976-1

  6 / 11036 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29269038
[Au] Autor:Yu F; Barron DS; Tantiwongkosi B; Fox M; Fox P
[Ad] Address:Department of Radiology, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA. Electronic address: frankfy21@gmail.com.
[Ti] Title:Characterisation of meta-analytical functional connectivity in progressive supranuclear palsy.
[So] Source:Clin Radiol;73(4):415.e1-415.e7, 2018 Apr.
[Is] ISSN:1365-229X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:AIM: To characterise the meta-analytical functional connectivity patterns in progressive supranuclear palsy (PSP) and compare them to idiopathic Parkinson's disease (IPD). MATERIALS AND METHODS: It was previously reported that PSP and IPD showed distinct regions of brain atrophy based on voxel-based morphometry (VBM) meta-analysis. Using these regions as seeds, healthy control data were referenced to create and statistically compare meta-analytical functional connectivity maps of PSP and IPD. RESULTS: Some overlap was noted between the two diseases, including within the thalamus, striatum, and prefrontal cortex; however, the PSP seeds demonstrated more extensive functional co-activity throughout the brain, particularly within the midbrain, precentral gyrus, parietal cortex, basal ganglia, and cerebellum. CONCLUSION: These findings may help guide future longitudinal studies in the development of new functional imaging biomarkers for diagnosis and assessing treatment response.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review

  7 / 11036 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29405480
[Au] Autor:Tschumi CW; Beckstead MJ
[Ad] Address:Aging & Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104-5005, USA.
[Ti] Title:Diverse actions of the modulatory peptide neurotensin on central synaptic transmission.
[So] Source:Eur J Neurosci;, 2018 Feb 06.
[Is] ISSN:1460-9568
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:Neurotensin (NT) is a 13 amino acid neuropeptide that is expressed throughout the central nervous system and is implicated in the etiology of multiple diseases and disorders. Many primary investigations of NT-induced modulation of neuronal excitability at the level of the synapse have been conducted, but they have not been summarized in review form in nearly 30 years. Therefore, the goal of this review is to discuss the many actions of NT on neuronal excitability across brain regions as well as NT circuit architecture. In the basal ganglia as well as other brain nuclei, NT can act through diverse intracellular signaling cascades to enhance or depress neuronal activity by modulating activity of ion channels, ionotropic and metabotropic neurotransmitter receptors, and presynaptic release of neurotransmitters. Further, NT can produce indirect effects by evoking endocannabinoid release, and recently has itself been identified as a putative retrograde messenger. In the basal ganglia, the diverse actions and circuit architecture of NT signaling allow for input-specific control of reward-related behaviors.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher
[do] DOI:10.1111/ejn.13858

  8 / 11036 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29474836
[Au] Autor:Masingue M; Adanyeguh I; Tchikviladzé M; Maisonobe T; Jardel C; Galanaud D; Mochel F
[Ad] Address:Sorbonne Université, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France; AP-HP, Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France.
[Ti] Title:Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
[So] Source:Mitochondrion;, 2018 Feb 21.
[Is] ISSN:1872-8278
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Mutations in the gene encoding polymerase gamma (POLG) are a common cause of mitochondrial diseases in adults. We retrospectively analyzed volumetric and diffusion tensor imaging data from 20 adult POLG-mutated patients compared to healthy controls. We used an original clinical binary load score and electroneuromyography to evaluate disease severity. Patients showed atrophy in the basal ganglia, amygdala, and brainstem (p < 0.05) compared to controls, as well as decreased fractional anisotropy (FA) in the cingulate gyrus, the internal capsule and the corona radiata (p < 0.05). Clinical scores correlated with decreased FA and increased radial diffusivity in several brain regions (p < 0.05).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:Publisher

  9 / 11036 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29479924
[Au] Autor:Jurinovic P; Jadrijevic E; Repic-Bulicic A; Titlic M
[Ad] Address:Clinical Department of Neurology, Split University Hospital Center, Split, Croatia.
[Ti] Title:Chorea Caused by Unruptured Arteriovenous Malformation: Case Report and Review of Literature.
[So] Source:Acta Clin Croat;56(3):561-565, 2017 Sep.
[Is] ISSN:0353-9466
[Cp] Country of publication:Croatia
[La] Language:eng
[Ab] Abstract:Chorea is a movement disorder that can be caused by a large range of degenerative, vascular, metabolic and toxic disorders in basal ganglia. Arteriovenous malformations are rare vascular malformations the clinical presentation of which depends on the malformation characteristics and localization. They are most commonly presented with intracranial hemorrhage, while focal neurological deficit is the rarest presentation. A case is reported of a 64-year-old female patient presented with hemichorea. Magnetic resonance imaging and digital subtraction angiography revealed the presence of arteriovenous malformation in the right temporal lobe.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Process
[do] DOI:10.20471/acc.2017.56.03.25

  10 / 11036 MEDLINE  
              first record previous record
select
to print
Photocopy
Full text

[PMID]: 29368214
[Au] Autor:Weller RO; Sharp MM; Christodoulides M; Carare RO; Møllgård K
[Ad] Address:Clinical Neurosciences, South Academic Block, Level D, LD66, MP806, Faculty of Medicine University of Southampton, Southampton General Hospital, Southampton, SO16 6YD, UK. row@soton.ac.uk.
[Ti] Title:The meninges as barriers and facilitators for the movement of fluid, cells and pathogens related to the rodent and human CNS.
[So] Source:Acta Neuropathol;135(3):363-385, 2018 Mar.
[Is] ISSN:1432-0533
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Meninges that surround the CNS consist of an outer fibrous sheet of dura mater (pachymeninx) that is also the inner periosteum of the skull. Underlying the dura are the arachnoid and pia mater (leptomeninges) that form the boundaries of the subarachnoid space. In this review we (1) examine the development of leptomeninges and their role as barriers and facilitators in the foetal CNS. There are two separate CSF systems during early foetal life, inner CSF in the ventricles and outer CSF in the subarachnoid space. As the foramina of Magendi and Luschka develop, one continuous CSF system evolves. Due to the lack of arachnoid granulations during foetal life, it is most likely that CSF is eliminated by lymphatic drainage pathways passing through the cribriform plate and nasal submucosa. (2) We then review the fine structure of the adult human and rodent leptomeninges to establish their roles as barriers and facilitators for the movement of fluid, cells and pathogens. Leptomeningeal cells line CSF spaces, including arachnoid granulations and lymphatic drainage pathways, and separate elements of extracellular matrix from the CSF. The leptomeningeal lining facilitates the traffic of inflammatory cells within CSF but also allows attachment of bacteria such as Neisseria meningitidis and of tumour cells as CSF metastases. Single layers of leptomeningeal cells extend into the brain closely associated with the walls of arteries so that there are no perivascular spaces around arteries in the cerebral cortex. Perivascular spaces surrounding arteries in the white matter and basal ganglia relate to their two encompassing layers of leptomeninges. (3) Finally we examine the roles of ligands expressed by leptomeningeal cells for the attachment of inflammatory cells, bacteria and tumour cells as understanding these roles may aid the design of therapeutic strategies to manage developmental, autoimmune, infectious and neoplastic diseases relating to the CSF, the leptomeninges and the associated CNS.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180225
[Lr] Last revision date:180225
[St] Status:In-Data-Review
[do] DOI:10.1007/s00401-018-1809-z


page 1 of 1104 go to page                         
   


Refine the search
  Database : MEDLINE Advanced form   

    Search in field  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information