An unusual cause of reversible parkinsonism.
Ontology highlight
ABSTRACT:
SUBMITTER: Mehta S
PROVIDER: S-EPMC5341280 | biostudies-literature | 2017 Jan-Mar
REPOSITORIES: biostudies-literature
Publications
An unusual cause of reversible parkinsonism.
Mehta Sahil S Kumar Amith A Takkar Aastha A Goyal Manoj Kumar MK Lal Vivek V
Annals of Indian Academy of Neurology 20170101 1
Similar Datasets
Project description:https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312943-sup-v001.htm.
| S-EPMC7197317 | biostudies-literature
Project description:A 77-year-old woman presented with progressively worsening apathy, depression, urinary incontinence and slowness of movement for the past 1 year. Asymmetric akinetic-rigid parkinsonism and mild left-sided hyper-reflexia were seen on examination. No ocular movement impairment, cerebellar or sensory signs were noticed. Routine laboratory testing was normal. Brain imaging revealed a large frontal tumour which was subsequently excised and pathologically confirmed as a meningioma. Marked clinical improvement was documented 3 months after surgery, and persistent clinical and imaging remission have been confirmed annually for the following 3 years. There have been some reports of parkinsonism associated with intracranial tumours. Although this is probably an uncommon situation, it is potentially treatable, and symptoms might even remit completely following successful management. Parkinson's disease is a common cause of parkinsonism, but alternative aetiologies should be suspected whenever atypical findings are demonstrated by clinical history or examination.
| S-EPMC4544984 | biostudies-other
Project description:A case of pathologically confirmed progressive multifocal leucoencephalopathy presenting with unilateral parkinsonism and cognitive decline that significantly improved over a 12-month period without any treatment is described. The patient had a background of chronic lymphocytic leukaemia, but had been in complete remission for 4 years at the time of diagnosis. This case is highly unusual not only in terms of the mode of clinical presentation in an apparently immunocompetent patient but also in that the patient spontaneously improved without any intervention. Progressive multifocal leucoencephalopathy should therefore be considered in the differential diagnosis of movement disorders developing in patients with a history of lymphoproliferative disease, even if they are in remission. Furthermore, such cases may not always require treatment, as the patient's immune system may overcome the viral disease process with spontaneous resolution of their neurological disorder.
| S-EPMC2077773 | biostudies-literature
Project description: Not available
| S-EPMC6353468 | biostudies-literature
Project description: Not available
| S-EPMC7466928 | biostudies-literature
Project description:Parkinson's disease is a neurodegenerative disorder with a multifactorial aetiology. Nevertheless, the genetic predisposition in many families with multi-incidence disease remains unknown. This study aimed to identify novel genes that cause familial Parkinson's disease. Whole exome sequencing was performed in three affected members of the index family with a late-onset autosomal-dominant parkinsonism and polyneuropathy. We identified a novel heterozygous substitution c.941A>C (p.Tyr314Ser) in the mitochondrial ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) gene, which co-segregates with disease within the family. Additional analysis of 699 unrelated Parkinson's disease probands with autosomal-dominant Parkinson's disease and 1934 patients with sporadic Parkinson's disease revealed another two variants in UQCRC1 in the probands with familial Parkinson's disease, c.931A>C (p.Ile311Leu) and an allele with concomitant splicing mutation (c.70-1G>A) and a frameshift insertion (c.73_74insG, p.Ala25Glyfs*27). All substitutions were absent in 1077 controls and the Taiwan Biobank exome database from healthy participants (n = 1517 exomes). We then assayed the pathogenicity of the identified rare variants using CRISPR/Cas9-based knock-in human dopaminergic SH-SY5Y cell lines, Drosophila and mouse models. Mutant UQCRC1 expression leads to neurite degeneration and mitochondrial respiratory chain dysfunction in SH-SY5Y cells. UQCRC1 p.Tyr314Ser knock-in Drosophila and mouse models exhibit age-dependent locomotor defects, dopaminergic neuronal loss, peripheral neuropathy, impaired respiratory chain complex III activity and aberrant mitochondrial ultrastructures in nigral neurons. Furthermore, intraperitoneal injection of levodopa could significantly improve the motor dysfunction in UQCRC1 p.Tyr314Ser mutant knock-in mice. Taken together, our in vitro and in vivo studies support the functional pathogenicity of rare UQCRC1 variants in familial parkinsonism. Our findings expand an additional link of mitochondrial complex III dysfunction in Parkinson's disease.
| S-EPMC7719032 | biostudies-literature
Project description:We present a previously healthy young man with cardiac tamponade. He underwent emergency pericardiocentesis. The pericardial fluid was exudative, and Salmonella sp. was grown on both pericardial and blood cultures. Further investigations revealed that this patient had classical Hodgkin lymphoma, which explains his immunocompromised state predisposing him to this infection. (Level of Difficulty: Advanced.).
| S-EPMC9666747 | biostudies-literature
Project description: Not available
| S-EPMC6601197 | biostudies-literature
Project description: Not available
| S-EPMC7328322 | biostudies-literature
Project description:It is vital to recognize correctly, chest pain of cardiac etiology. Most commonly, it is because of blood supply-demand inequity in the myocardium. However, the phenomenon of myocardial bridging as a cause of cardiac chest pain has come to attention reasonably recently. Herein, a coronary artery with a normal epicardial orientation develops a transient myocardial course. If the cardiac muscle burden is substantial, the respective artery gets compressed during each cycle of systole, thereby impeding blood flow in the artery. Hence, myocardial bridging has been attributed to as a rare cause of angina. In this case report, the authors discuss a patient in whom myocardial bridging turned out to be an elusive cause of angina. We wish to underscore the importance of being clinically mindful of myocardial bridging when assessing a patient with angina.
| S-EPMC6083606 | biostudies-literature