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https://www.readbyqxmd.com/read/29664509/congenital-hydrocephalus-g%C3%A3-mez-l%C3%A3-pez-hern%C3%A3-ndez-syndrome-an-underdiagnosed-syndrome-a-clinical-case
#1
Camila Gálvez V, Isidro Huete, Marta Hernández
INTRODUCTION: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). OBJECTIVE: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29593921/unilateral-asterixis-in-arm-and-leg-caused-by-internal-capsula-stroke
#2
Katharina Feil, Marion Huber, Nicolina Goldschagg, Lars Kellert
We report an unusual clinical manifestation of ischemic stroke with acute right-sided asterixis affecting the arm as well as the leg due to a lesion in the left posterior limb of the internal capsula. After treatment with intravenous thrombolysis the patient made a good recovery. Notably, in this case unilateral asterixis affected the arm as well as the leg, resulting in postural and gait instability. In addition, damage in the basal ganglia-thalamo-cortical network, as in our patient, has to be distinguished from other supratentorial causes of acute asterixis like thalamic or frontal lobe lesions linked to the cerebello-brainstem-thalamo-frontal lobe circuits...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/29570519/cystic-progression-of-a-cavernous-malformation-at-the-level-of-the-trigeminal-root-entry-zone-presenting-with-sudden-onset-of-trigeminal-neuralgia
#3
Carlo Giacobbo Scavo, Raffaelino Roperto, Guglielmo Cacciotti, Luciano Mastronardi
BACKGROUND: Cavernous malformations (CM) in the cerebellopontine angle (CPA) are rare, and most of them are solid and extend from the internal auditory canal into the CPA. In contrast, cystic CM arising in the CPA and not involving the internal auditory canal and dura of the skull base are extremely rare. The authors present an uncommon large cystic progression of a cavernous malformation at the level of the trigeminal root entry zone evolving to severe trigeminal neuralgia and brainstem compression...
March 22, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29503326/tremor-syndromes-a-review
#4
REVIEW
Nitish Kamble, Pramod Kumar Pal
Among the involuntary movement disorders, tremor is a common phenomenology seen in clinical practice. The important factors that need to be determined while assessing a patient with tremor include the phenomenology of tremor, presence or absence of other neurologic signs, and the effect of medications or alcohol. Tremor can broadly be classified based on the circumstances under which it occurs, i.e., rest or action. The basal ganglia-cerebello-thalamic and dentate-olivary circuits are involved in the generation of tremor...
March 2018: Neurology India
https://www.readbyqxmd.com/read/29490269/precision-of-discrete-and-rhythmic-forelimb-movements-requires-a-distinct-neuronal-subpopulation-in-the-interposed-anterior-nucleus
#5
Aloysius Y T Low, Ayesha R Thanawalla, Alaric K K Yip, Jinsook Kim, Kelly L L Wong, Martesa Tantra, George J Augustine, Albert I Chen
The deep cerebellar nuclei (DCN) represent output channels of the cerebellum, and they transmit integrated sensorimotor signals to modulate limb movements. But the functional relevance of identifiable neuronal subpopulations within the DCN remains unclear. Here, we examine a genetically tractable population of neurons in the mouse interposed anterior nucleus (IntA). We show that these neurons represent a subset of glutamatergic neurons in the IntA and constitute a specific element of an internal feedback circuit within the cerebellar cortex and cerebello-thalamo-cortical pathway associated with limb control...
February 27, 2018: Cell Reports
https://www.readbyqxmd.com/read/29468083/research-note-a-resting-state-cerebello-amygdaloid-intrinsically-connected-network
#6
Christophe Habas
Background: Previous ROI-based functional connectivity studies found functional coherence between cerebellum and cerebral amygdale, at rest. Moreover, some neurospychiatric symptoms were accompanied by abnormal activations of these two brain areas. Therefore, the aim of the study was to identify a putative, resting-state intrinsically connected cerebello-amygdaloid network. Methods: ICA-based analysis was performed on brain resting-state functional images of 15 volunteers...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29427344/directional-communication-during-movement-execution-interferes-with-tremor-in-parkinson-s-disease
#7
Georgios Naros, Florian Grimm, Daniel Weiss, Alireza Gharabaghi
BACKGROUND: Both the cerebello-thalamo-cortical circuit and the basal ganglia/cortical motor loop have been postulated to be generators of tremor in PD. The recent suggestion that the basal ganglia trigger tremor episodes and the cerebello-thalamo-cortical circuitry modulates tremor amplitude combines both competing hypotheses. However, the role of the STN in tremor generation and the impact of proprioceptive feedback on tremor suppression during voluntary movements have not been considered in this model yet...
February 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29410313/motor-dysfunction-as-research-domain-in-the-period-preceding-manifest-schizophrenia-a-systematic-review
#8
REVIEW
Dusan Hirjak, Andreas Meyer-Lindenberg, Katharina M Kubera, Philipp A Thomann, Robert C Wolf
Schizophrenia is a severe behavioral syndrome of neurodevelopmental nature marked by primary or genuine motor abnormalities (GMA), which refer to spontaneous and medication-independent motor phenomena. Since motor dysfunction thus might be a consequence of events occurring during early childhood and adolescence, GMA can be detected in the period preceding manifest schizophrenia. However, the question whether motor system dysfunction might be a promising motor intermediate phenotype for schizophrenia remains unanswered...
February 20, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29404647/-essential-tremor-state-of-the-art
#9
REVIEW
G Deuschl, D Berg
Essential tremor (ET) is currently classified as a syndrome rather than a unique disease, primarily involving monosymptomatic action tremor in both hands. Different etiologies are presumed to underlie this condition. Currently only a few monogenetic conditions are known to present with this syndrome. If accompanied by additional symptoms that do not in themselves constitute a new syndrome, such as abnormal tandem gait or postures, the syndrome should be diagnosed as "ET plus". ET is associated with abnormal rhythmic activation of the cerebello-thalamo-cortical tremor circuit...
February 5, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29396401/abnormal-cerebellar-processing-of-the-neck-proprioceptive-information-drives-dysfunctions-in-cervical-dystonia
#10
T Popa, C Hubsch, P James, A Richard, M Russo, S Pradeep, S Krishan, E Roze, S Meunier, A Kishore
The cerebellum can influence the responsiveness of the primary motor cortex (M1) to undergo spike timing-dependent plastic changes through a complex mechanism involving multiple relays in the cerebello-thalamo-cortical pathway. Previous TMS studies showed that cerebellar cortex excitation can block the increase in M1 excitability induced by a paired-associative stimulation (PAS), while cerebellar cortex inhibition would enhance it. Since cerebellum is known to be affected in many types of dystonia, this bidirectional modulation was assessed in 22 patients with cervical dystonia and 23 healthy controls...
February 2, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29390414/prenatal-diagnosis-of-joubert-syndrome-a-case-report-and-literature-review
#11
Lingling Zhu, Limei Xie
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29387530/connectivity-derived-thalamic-segmentation-in-deep-brain-stimulation-for-tremor
#12
Harith Akram, Viswas Dayal, Philipp Mahlknecht, Dejan Georgiev, Jonathan Hyam, Thomas Foltynie, Patricia Limousin, Enrico De Vita, Marjan Jahanshahi, John Ashburner, Tim Behrens, Marwan Hariz, Ludvic Zrinzo
The ventral intermediate nucleus (VIM) of the thalamus is an established surgical target for stereotactic ablation and deep brain stimulation (DBS) in the treatment of tremor in Parkinson's disease (PD) and essential tremor (ET). It is centrally placed on a cerebello-thalamo-cortical network connecting the primary motor cortex, to the dentate nucleus of the contralateral cerebellum through the dentato-rubro-thalamic tract (DRT). The VIM is not readily visible on conventional MR imaging, so identifying the surgical target traditionally involved indirect targeting that relies on atlas-defined coordinates...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29376441/spontaneous-haemorrhage-into-a-large-abducens-nerve-schwannoma-a-case-report
#13
Daniel Brown, Nicolas McConnell, Richard List, Farouk Olubajo, Robin Highley, Mathew Storey, Gueorgui Kounin
PURPOSE: Abducens schwannomas are rare tumors that are not known to present with acute haemorrhage. We present a case of a 59 year-old female on warfarin who presented acutely with a sudden onset headache, nausea and photophobia. Neuroimaging revealed an acute haemorrhage into a lesion that entered Dorello's canal and was consistent with an abducens nerve schwannoma. MATERIALS AND METHODS: The patient's case notes, imaging, histology and operative recording were reviewed retrospectively to compile this case report...
January 29, 2018: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29376092/neuronal-activity-and-outcomes-from-thalamic-surgery-for-spinocerebellar-ataxia
#14
Takao Hashimoto, Abirami Muralidharan, Kunihiro Yoshida, Tetsuya Goto, Takehiro Yako, Kenneth B Baker, Jerrold L Vitek
Objectives: We investigated the effects of deep brain stimulation (DBS) or lesions of the ventral intermediate nucleus (Vim) of the thalamus for spinocerebellar ataxia (SCA) and examined the pathophysiological role of neuronal activity of the Vim underlying ataxia. Methods: Five patients with SCA with cortical atrophy (ages 60-69 years; 2 sporadic and three familial SCA) and five patients with essential tremor (ET) (ages 57-71 years) were treated with Vim surgery...
January 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29356974/structural-cerebellar-correlates-of-cognitive-functions-in-spinocerebellar-ataxia-type-2
#15
G Olivito, M Lupo, C Iacobacci, S Clausi, S Romano, M Masciullo, M Molinari, M Cercignani, M Bozzali, M Leggio
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease involving the cerebellum and characterized by a typical motor syndrome. In addition, the presence of cognitive impairment is now widely acknowledged as a feature of SCA2. Given the extensive connections between the cerebellum and associative cerebral areas, it is reasonable to hypothesize that cerebellar neurodegeneration associated with SCA2 may impact on the cerebellar modulation of the cerebral cortex, thus resulting in functional impairment...
March 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29354585/neuroanatomical-mechanism-of-cerebellar-mutism-after-stroke
#16
Sekwang Lee, Yoon Hye Na, Hyun Im Moon, Woo Suk Tae, Sung-Bom Pyun
Cerebellar mutism (CM) is a rare neurological condition characterized by lack of speech due to cerebellar lesions. CM is often reported in children. We describe a rare case of CM after spontaneous cerebellar hemorrhage. The patient showed mutism, irritability, decreased spontaneous movements and oropharyngeal apraxia. Diffusion tensor imaging revealed significant volume reduction of medial frontal projection fibers from the corpus callosum. In Tracts Constrained by UnderLying Anatomy (TRACULA) analysis, forceps major and minor and bilateral cingulum-angular bundles were not visualized...
December 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29325939/liponeurocytoma-of-the-cerebellopontine-angle
#17
Carmela Chiaramonte, Sylvain Rabaste, Timothee Jacquesson, David Meyronet, François Cotton, Emmanuel Jouanneau, Moncef Berhouma
BACKGROUND: Liponeurocytoma is a very rare tumor classified as grade II (neuronal and mixed neuronal-glial tumors) according to 2016 World Health Organization classification of tumors of the central nervous system. The median age at detection is 50 years, and the most frequent location is the posterior cranial fossa, especially within the cerebellar hemispheres; liponeurocytomas arising in the cerebellopontine angle (CPA) are exceptional. CASE DESCRIPTION: Here we report the clinical, radiological, and pathological characteristics of a CPA liponeurocytoma in a 35-year-old woman, as well as a review of the literature...
April 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29278012/pilocytic-astrocytoma-of-the-cerebellopontine-angle-mimicking-vestibular-schwannoma-report-of-a-rare-entity
#18
Gautam Dutta, Daljit Singh, Hukum Singh, Deepashu Sachdeva, Vikas Kumar, Ashutosh Chaturvedi
We present a rare case of a 55-yr old patient of pilocytic astrocytoma of the cerebello-pontine angle mimicking a vestibular schwannoma. The tumor protruded into the porus acusticus causing enlargement of the internal auditory meatus, which is quite an unusual feature of glial tumours.
December 26, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29204315/pathogenesis-of-primary-orthostatic-tremor-current-concepts-and-controversies
#19
REVIEW
Abhishek Lenka, Pramod Kumar Pal, Danish Ejaz Bhatti, Elan D Louis
Background: Orthostatic tremor (OT), a rare and complex movement disorder, is characterized by rapid tremor of both legs and the trunk while standing. These disappear while the patient is either lying down or walking. OT may be idiopathic/primary or it may coexist with several neurological conditions (secondary OT/OT plus). Primary OT remains an enigmatic movement disorder and its pathogenesis and neural correlates are not fully understood. Methods: A PubMed search was conducted in July 2017 to identify articles for this review...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29123475/cerebello-cortical-differences-in-effective-connectivity-of-the-dominant-and-non-dominant-hand-during-a-visuomotor-paradigm-of-grip-force-control
#20
Eric Moulton, Cécile Galléa, Claire Kemlin, Romain Valabregue, Marc A Maier, Pavel Lindberg, Charlotte Rosso
Structural and functional differences are known to exist within the cortical sensorimotor networks with respect to the dominant vs. non-dominant hand. Similarly, the cerebellum, a key structure in the sensorimotor network with its cerebello-cortical connections, has been reported to respond differently when using the dominant vs. non-dominant hand. Several groups have already investigated causal interactions during diverse motor paradigms using effective connectivity but few have studied the larger visuomotor network, including key structures such as the parietal cortex and the cerebellum, with both hands...
2017: Frontiers in Human Neuroscience
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