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Condition: Ataxia
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Total 492 results found since Jan 2013.
Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients
This study provided an NGS-based approach of the genetic causes of developmental regression and neurodeg enerative diseases as it comprised different variants and de novo mutations with complex phenotypes of these diseases which in turn help in early diagnoses and counseling for affected families.
Source: Neurogenetics - November 26, 2022 Category: Genetics & Stem Cells Source Type: research
Microvascular decompression in trigeminal neuralgia - a prospective study of 115 patients
ConclusionMicrovascular decompression is an effective treatment for classical and idiopathic (only patients with a neurovascular contact) trigeminal neuralgia with a high chance of a long-lasting effect. The chance of an excellent outcome was highest in men and in patients with classical trigeminal neuralgia. Complications are relatively frequent warranting thorough patient evaluation and information preoperatively.Trial registrationClinical.trials.gov registration no.NCT04445766.
Source: The Journal of Headache and Pain - November 19, 2022 Category: Neurology Source Type: research
Craniovertebral Junction Anomalies: An Overlooked Cause of & #39;Posterior Circulation Stroke & #39;
Conclusions: CVJ anomalies can present as posterior circulation infarct. One must evaluate all patients with posterior circulation stroke, especially young patients, for possible CVJ anomalies. Dynamic lateral cervical spine X-ray is an important tool to diagnose AAD. CVJ anomalies represent a treatable cause of VAD.
Source: Neurology India - November 11, 2022 Category: Neurology Authors: Kanwaljeet Garg Vivek Tandon Rajinder Kumar P Sarat Chandra Shashank S Kale Bhawani Shankar Sharma Ashok K Mahapatra Source Type: research
Mechanisms of COVID-19-induced cerebellitis
Curr Med Res Opin. 2022 Oct 28:1-25. doi: 10.1080/03007995.2022.2141963. Online ahead of print.ABSTRACTThe COVID-19 pandemic caused by SARS-CoV2 has raised several important health concerns, not least increased mortality and morbidity. SARS-CoV2 can infect the central nervous system via hematogenous or transneuronal routes, acting through different receptors including ACE2, DPP4 and neuropilin 1- and cause several issues, include the focus here, cerebellitis. The cerebellum is an essential part of the CNS located adjacent to the brainstem with a complex micro and macroscopic structure. The cerebellum plays several physiolo...
Source: Current Medical Research and Opinion - October 28, 2022 Category: Research Authors: Mohammad Banazadeh Sepehr Olangian-Tehrani Melika Sharifi Mohammadreza Malek-Ahmadi Farhad Nikzad Nooria Doozandeh-Nargesi Alireza Mohammadi Gary J Stephens Mohammad Shabani Source Type: research
Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report
We reported the case of an adult-onset KD presenting with progressive myoclonic epilepsy (PME) and cortical lesions mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. The whole-exome sequencing (WES) identified a pathogenic homozygous missense mutation of the GALC gene. Parents of the patient were heterozygous for the mutation. The clinical, electrophysiological, and radiological data of the patient were retrospectively analyzed. The patient was a 24-year-old woman presenting with generalized seizures, progressive cognitive decline, psychiatric symptoms, gait ataxia, and ...
Source: Frontiers in Neurology - October 21, 2022 Category: Neurology Source Type: research
Neurological Consequences of Congenital Disorders of Glycosylation
Adv Neurobiol. 2023;29:219-253. doi: 10.1007/978-3-031-12390-0_8.ABSTRACTThe chapter is devoted to neurological aspects of congenital disorders of glycosylation (CDG). At the beginning, the various types of CDG with neurological presentation of symptoms are summarized. Then, the occurrence of various neurological constellation of abnormalities (for example: epilepsy, brain anomalies on neuroimaging, ataxia, stroke-like episodes, autistic features) in different CDG types are discussed followed by data on possible biomarkers and limited treatment options.PMID:36255677 | DOI:10.1007/978-3-031-12390-0_8
Source: Adv Data - October 18, 2022 Category: Epidemiology Authors: Justyna Paprocka Source Type: research
Ischemic stroke is a potential complication of uncontrolled inflammation in mevalonate kinase deficiency – A case report
Mevalonate kinase deficiency (MKD) is an autosomal recessive monogenic autoinflammatory disease (AID) characterized by recurrent antigen-independent systemic inflammation attacks, interleukin-1beta hypersecretion, fever and pain.1 Neurological manifestations include headaches, fatigue, retinal dystrophy, ataxia and development delay.2
Source: Journal of Stroke and Cerebrovascular Diseases - October 12, 2022 Category: Neurology Authors: Justine Blais, Didier Bonneville-Roussy, Hannah Laure Elfassy, Sylvain Lanthier Tags: Case Report Source Type: research
Incidence and clinical features of acute multiple small cerebellar infarction
CONCLUSION: In patients with acute cerebellar infarction, 30% of patients presented with MSCI. MSCI and LCI showed similar vascular risk factors and vascular stenosis in the posterior circulation system. Patients with MSCI should pay more attention to evaluating anterior circulation vessels' anatomy. Large-artery atherosclerosis was the main pathogenesis of acute MSCI. Assessment of cerebral vessels might be critically required in patients with MSCI complicated atrial fibrillation.PMID:36174324 | DOI:10.1016/j.jstrokecerebrovasdis.2022.106777
Source: Atherosclerosis - September 29, 2022 Category: Cardiology Authors: Ling Yu Xuanting Li Yutong Hou Hongmei Hu Mingyue Bai Lei Yang Wenli Hu Source Type: research
Malaria causing post-infectious cerebellitis, a case report and literature review
CONCLUSION: Malaria should be included as a differential diagnosis in a patient presenting with cerebellar signs as its devastating if left untreated. However, it responds well to anti-malarial regimens if started early during the course.PMID:36147173 | PMC:PMC9486712 | DOI:10.1016/j.amsu.2022.104462
Source: Annals of Medicine - September 23, 2022 Category: Internal Medicine Authors: Mohamad Hijazi ELMustafa Abdalla Abdalla Fadul Doaa Ahmed Eltayeb Abdulrahman Al-Mashdali Source Type: research
