Stiff-Eye Syndrome—Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report
Brain Sciences, 2021 Anti-GAD ataxia is one of the most common forms of immune-mediated cerebellar ataxias. Many neurological syndromes have been reported in association with anti-GAD. Ophthalmoparesis has been described in stiff person syndrome. We report a case of anti-GAD
Abel Dantas Belém +12 more
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Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes. [PDF]
, 2007 The mechanism of mitochondrial DNA replication is a subject of intense debate. One model proposes a strand-asynchronous replication in which both strands of the circular genome are replicated semi-independently while the other model proposes both a ...
Goffart, S +4 more
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Anti-Ma and anti-Ta associated paraneoplastic neurological syndromes: 22 newly diagnosed patients and review of previous cases [PDF]
, 2008 Background: Paraneoplastic neurological syndromes (PNS) are indirect remote effects of cancer on the nervous system, often associated with the presence of specific serum antibodies.
Hoffmann, L. A. +10 more
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Eye wall resections for intraocular tumors: Our experience
Indian Journal of Ophthalmology, 2014 We conducted a retrospective review of 11 eyes undergoing eye wall resection between October 1998 and October 2009. The median age of 11 patients was 29 years. Decreased vision (eight) was the most common presenting symptom.
Tandava Krishnan +4 more
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A Rare Case of Orbital Apex Syndrome in Herpes Zoster Ophthalmicus [PDF]
Journal of Clinical and Diagnostic Research, 2016 Orbital Apex Syndrome (OAS) is a rare complication of Herpes Zoster Ophthalmicus (HZO). We are reporting a case of 65-yearold male who developed OAS following HZO.
CHARUDUTT KALAMKAR +3 more
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A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome. [PDF]
, 2013 Multiple sclerosis (MS) is a chronic disease characterized by inflammation, demyelination, gliosis (scarring), and neuronal loss; the course can be relapsing-remitting or progressive.
Kaushik, M +4 more
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Mucocele of the sphenoid sinus: A rare cause of reversible 3 rd nerve palsy
Annals of Indian Academy of Neurology, 2012 Ophthalmoplegia due to 3 rd nerve palsy is a common occurrence, and is usually a sign of diabetes mellitus or a serious intracranial disease. We report a rare case of pupil sparing 3 rd nerve palsy caused by mucocele of the sphenoid sinus.
Rashim Kataria +4 more
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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
, 2018 Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
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A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari +3 more
wiley +1 more source