A variable neurodegenerative phenotype with polymerase gamma mutation [PDF]
, 2009 mtDNA replication and repair, causes mitochondrial diseases including autosomal dominant progressive external ophthalmoplegia (PEO),1 childhood hepato-encephalopathy (Alpers– Huttenlocher syndrome), adult-onset spinocerebellar ataxia, and sensory nerve
Baruffini, E. +8 more
core +1 more source
Orbital Complications of Acute Rhinosinusitis in Adulthood: Predictors of Outcome and Management
The Laryngoscope, EarlyView.In a multicenter cohort of 213 adults with orbital complications of acute rhinosinusitis, 68% required surgery and the modified Chandler classification was the strongest predictor of treatment modality. While abscess‐related and type II complications frequently necessitated surgical management, final ophthalmologic outcomes were uniformly favorable ...
Alessandro Vinciguerra +41 more
wiley +1 more source
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
doaj +1 more source
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
core +1 more source
Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]
, 2019 BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria +9 more
core +1 more source
Ocular Motor Abnormalities in Functional Neurological Disorder: A Video‐Oculography Study
Movement Disorders Clinical Practice, EarlyView.Abstract Background Functional neurological disorders (FND) can include various sensory, motor or cognitive symptoms. Eye movement recordings, measured through video‐oculography, could serve as biomarkers for characterizing these dysfunctions in FND.
Aude Sangare +13 more
wiley +1 more source
Erdheim-Chester Disease Presented with Bilateral Carotid Artery Occlusion: Case Report
Türk Nöroloji Dergisi, 2010 Erdheim-Chester disease is a rare, non-Langerhans form of systemic histiocytosis of unknown etiology. The disease affects multiple organ systems, including musculoskeletal, cardiac, pulmonary, gastrointestinal, and central nervous systems, producing ...
Yahya Çelik +7 more
doaj +2 more sources
Indian Journal of Pain, 2014 Painful ophthalmoplegia refers to a multiple cranial nerve syndrome involving oculomotor, trochlear, abducens, and ophthalmic division of the trigeminal nerve.
Vivek Guleria +3 more
doaj +1 more source
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
core +1 more source
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. [PDF]
, 2020 Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have
A. Athanasiou-Fragkouli +86 more
core +8 more sources