Vertebrobasilar Insufficiency Presenting as Orthostatic Cerebellar Ataxia.
Ontology highlight
ABSTRACT:
SUBMITTER: Kim GS
PROVIDER: S-EPMC8370163 | biostudies-literature | 2021 May-Jun
REPOSITORIES: biostudies-literature
Publications
Vertebrobasilar Insufficiency Presenting as Orthostatic Cerebellar Ataxia.
Kim Geun Soo GS Park Hong-Kyun HK Song Pamela P Lee Jae Jung JJ Cho Joong-Yang JY
Annals of Indian Academy of Neurology 20210421 3
Similar Datasets
Project description:Subclavian steal syndrome is a vascular disorder that consists of significant blood supply restriction with resultant insufficiency of the vertebrobasilar artery and the subclavian artery causing symptomatic insufficiency to the brain and upper extremity. It is important to recognize this condition in patients with subacute to chronic posterior circulation vascular insufficiency as early diagnosis and treatment can have good clinical outcomes (J Clin Neurosci. 2010;17:1339). CT angiogram of the head and neck should be considered in patients with chronic vertebrobasilar insufficiency to evaluate subclavian steal syndrome.
| S-EPMC7981698 | biostudies-literature
Project description:Two patients, 48- and 50-year-old sisters, presented with a characteristic facial appearance with slowly progressive deafness and cerebellar ataxia starting in their 30s. Genetic testing identified compound heterozygous pathogenic variants in the ERCC6 gene: c.1583G>A (p.G528E) and c.1873T>G (p.Y625D). A diagnosis of Cockayne syndrome (CS) B type III was made. CS is usually diagnosed in childhood with well-defined facial characteristics and photosensitivity. This case report describes rare cases of adulthood CS with a primary presentation of slowly progressing deafness and cerebellar ataxia. CS should be considered in adults with characteristic facial and skin findings, deafness, and cerebellar ataxia.
| S-EPMC10465293 | biostudies-literature
Project description:SEE MUTHURAMAN ET AL DOI101093/AWW164 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Primary orthostatic tremor is characterized by high frequency tremor affecting the legs and trunk during the standing position. Cerebellar defects were suggested in orthostatic tremor without direct evidence. We aimed to characterize the anatomo-functional defects of the cerebellar motor pathways in orthostatic tremor. We used multimodal neuroimaging to compare 17 patients with orthostatic tremor and 17 age- and gender-matched healthy volunteers. Nine of the patients with orthostatic tremor underwent repetitive transcranial stimulation applied over the cerebellum during five consecutive days. We quantified the duration of standing position and tremor severity through electromyographic recordings. Compared to healthy volunteers, grey matter volume in patients with orthostatic tremor was (i) increased in the cerebellar vermis and correlated positively with the duration of the standing position; and (ii) increased in the supplementary motor area and decreased in the lateral cerebellum, which both correlated with the disease duration. Functional connectivity between the lateral cerebellum and the supplementary motor area was abnormally increased in patients with orthostatic tremor, and correlated positively with tremor severity. After repetitive transcranial stimulation, tremor severity and functional connectivity between the lateral cerebellum and the supplementary motor area were reduced. We provide an explanation for orthostatic tremor pathophysiology, and demonstrate the functional relevance of cerebello-thalamo-cortical connections in tremor related to cerebellar defects.
| S-EPMC4958903 | biostudies-literature
Project description:A 38-year-old woman presented with a week's history of binocular horizontal double vision and acute vertigo with gaze-induced nystagmus. We considered a diagnosis of one of the six syndromes of the sixth cranial nerve and evaluated several causes. She had history of severe anemia, vitamin B12 deficiency, and hypertension. Magnetic resonance imaging with angiography showed stenosis of the right vertebral artery and hyperintensity on both basal ganglia. As we describe here, we should consider vertebrobasilar insufficiency as a cause for sixth cranial nerve palsy if a patient has high risk for microvascular ischemia, even in the absence of acute brain hemorrhage or infarction.
| S-EPMC7364189 | biostudies-literature
Project description:Childhood presentations of ataxia, an impairment of balance and coordination caused by damage to or dysfunction of the cerebellum, can often be challenging to diagnose. Presentations tend to be clinically heterogeneous, but key considerations may vary based on the child's age at onset, the course of illness, and subtle differences in phenotype. Systematic investigation is recommended for efficient diagnosis. In this review, we outline common etiologies and describe a comprehensive approach to the evaluation of both acquired and genetic cerebellar ataxia in children.
| S-EPMC3490706 | biostudies-literature
Project description: Not available
| S-EPMC7726028 | biostudies-literature
Project description: Not available
| S-EPMC7295955 | biostudies-literature
Project description:Vertebrobasilar insufficiency (VBI) is one of the most common forms of cerebrovascular pathology. The progression of the VBI, especially in the context of inadequate therapy, often leads to the formation of a persistent neurological deficits within the framework of dyscirculatory encephalopathy and the consequences of a stroke in the vertebrobasilar system. This study demonstrate the importance of objective methods of patient investigation to optimize the choice of the most effective methods of surgical treatment for VBI in cases of ineffective medical treatment. We have shown that the optimization of the diagnostic algorithm contributes to the correct individualized determination of types of surgical treatment for patients with VBI. It was found that, in addition to traditional diagnostic methods, the use of radiographic methods (ultrasound Doppler, multispiral computed tomography with contrast enhancement) is invaluable for choosing the tactics of surgical treatment. We propose a significant outcome indicator like the blood flow reactivity index to determine the postoperative improvement of blood flow in the vertebral arteries. In addition, the need to perform cerebral angiography and consultations with related specialists to exclude pathologies with a similar clinical picture is emphasized.
| S-EPMC9150087 | biostudies-literature
Project description:BackgroundVertebrobasilar insufficiency vertebrobasilar (VBIV) is a serious nerve disease and many old people suffer from it. Acupuncture has been widely applied in the treatment of VBIV. However, to our knowledge, there has been no systematic review or meta-analysis of randomized controlled trails regarding the effectiveness of this treatment. Here, we provide a protocol to evaluate the effectiveness and safety of acupuncture for VBIV.MethodsRelevant randomized controlled trials in 5 databases (EMBASE, PubMed, the Cochrane Central Register of Controlled Trials [Cochrane Library], Chinese Biomedical Literature Database [CBM], China National Knowledge Infrastructure [CNKI]) will be comprehensively searched by 2 researchers in December 2017. The clinical efficacy will be accepted as the primary outcomes. We will also use RevMan V.5.3 software to compute the data synthesis carefully when a meta-analysis is allowed.ResultsThis study will provide a high-quality synthesis of current evidence of acupuncture for VBIV from several aspects including clinical efficacy, the blood flow velocity of the left vertebral artery (LVA), the right vertebral artery (RVA), the basilar artery (BA)and adverse events.ConclusionThe conclusion of our systematic review will provide evidence to judge whether acupuncture is an effective and safety intervention for patient with VBIV.
| S-EPMC5815781 | biostudies-literature
Project description:Cerebellar cortex expression in ataxia-telangiectasia patients and normal controls. The neurodegenerative disease known as ataxia-telangiectasia (A-T) is caused by the absence of the ATM (A-T mutated) protein. A long-standing mystery surrounding A-T is why cerebellar Purkinje cells (PCs) appear uniquely vulnerable to ATM-deficiency. Here, we present that 5-hydroxymethylcytosine (5hmC), a newly recognized epigenetic marker found at high levels in neurons, is substantially reduced in human A-T and Atm-/- mouse cerebellar PCs. TET1, an enzyme that converts 5mC to 5hmC, responds to DNA damage. Manipulation of TET1 activity directly affects neuronal cell cycle reentry and cell death after the induction of DNA damage. Quantitative, genome-wide analysis of 5hmC of samples from human cerebellum showed that in ATM-deficiency there is a remarkable genome-wide reduction of 5hmC enrichment at both proximal and distal regulatory elements. These results reveal a role of TET1-mediated 5hmC in DNA damage response, and provide insights into the basis of a PC-specific DNA demethylation alteration in ATM-deficiency. Human frozen tissue was obtained from the NICHD Brain and Tissue Bank of Developmental Disorders at the University of Maryland, Baltimore, MD. RNA was prepared and run on an Illumina Human HT-12 v4 microarray. 3 ataxia-telangiectasia (A-T) cases and 4 normal controls.
2015-10-30 | E-GEOD-61019 | biostudies-arrayexpress