Browsing Research Articles (Neurology) by Title

Browsing Research Articles (Neurology) by Title

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  • Eryptosis as a marker of Parkinson’s disease 
    Pretorius, Etheresia; Swanepoel, A.C. (Albe Carina); Buys, A.V. (Antonia Vergina); Vermeulen, Natasha; Duim, Wiebren; Kell, Douglas B. (Impact Journals, 2014-10)
    A major trend in recent Parkinson’s disease (PD) research is the investigation of biological markers that could help in identifying at‐risk individuals or to track disease progression and response to therapies. Central ...
  • Facioscapulohumeral muscular dystrophy : a radiologic and manometric study of the pharynx and esophagus 
    Stubgen, Joerg-Patrick (Springer, 2008)
    Facioscapulohumeral muscular dystrophy (FSHD) is not a recognized neuromuscular cause of dysphagia. However, a study of pharyngoesophageal function in FSHD has not been performed or reported. The aim of this study was to ...
  • Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson’s disease 
    Du Toit, Nicola; Van Coller, Riaan; Anderson, David G.; Carr, Jonathan; Bardien, Soraya (Springer, 2019-10)
    G2019S in LRRK2 is the most common mutation associated with Parkinson’s disease (PD). Highest frequencies are in North African Arabic (30–41%) and Ashkenazi Jewish (6–30%) populations, mostly due to founder effects. Here, ...
  • Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 
    Corbett, Mark A.; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F.; Florian, Rahel; Schneider, Amy L.; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; Van Rootselaar, Anne-Fleur; CorrelL, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; Baldassari, Sara; Tinuper, Paolo; Barton, Kirston; Carswell, Shaun; Smith, Martin; Berardelli, Alfredo; Carroll, Renee; Gardner, Alison; Friend, Kathryn L.; Blatt, Ilan; Lacomino, Michele; Di Bonaventura, Carlo; Striano, Salvatore; Buratti, Julien; Keren, Boris; Nava, Caroline; Forlani, Sylvie; Rudolf, Gabrielle; Hirsch, Edouard; Leguern, Eric; Labauge, Pierre; Balestrini, Simona; Sander, Josemir W.; Afawi, Zaid; Helbig, Ingo; Ishiura, Hiroyuki; Tsuji, Shoji; Sisodiya, Sanjay M.; Casari, Giorgio; Sadleir, Lynette G.; Van Coller, Riaan; Tijssen, Marina A.J.; Klein, Karl Martin; Van den Maagdenberg, Arn M.J.M.; Zara, Federico; Guerrini, Renzo; Berkovic, Samuel F.; Pippucci, Tommaso; Canafoglia, Laura (Nature Research, 2019-10)
    Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. Four independent loci have been ...
  • Isolated posterior fossa involvement of progressive multifocal leucoencephalopathy in HIV : a case series with review of the literature 
    Mudau, Adziambei; Suleman, Farhana Ebrahim; Schutte, Clara-Maria; Lockhat, Zarina I. (Health and Medical Publishing Group, 2017-11-14)
    Progressive multifocal leucoencephalopathy (PML) is a progressive demyelinating condition resulting from infection with the John Cunningham virus and precipitated by immunocompromised states. The HIV pandemic, especially ...
  • Life-threatening Listeria meningitis : need for revision of South African acute bacterial meningitis treatment guidelines 
    Schutte, Clara-Maria; Van der Meyden, C.H. (Kees); Kakaza, Mandisa; Lockhat, Zarina I.; Van der Walt, Elizabeth (Health and Medical Publishing Group, 2019)
    BACKGROUND: The recent listeriosis outbreak in South Africa (SA) received widespread attention in the media. More than 1 000 laboratoryconfirmed cases of listeriosis occurred during an 18-month period, with a case fatality ...
  • Movement of prion-like α-synuclein along the gut–brain axis in Parkinson's disease : a potential target of curcumin treatment 
    Chetty, Devina; Abrahams, Shameemah; Van Coller, Riaan; Carr, Jonathan; Kenyon, Colin; Bardien, Soraya (Wiley, 2021-07)
    A pathological hallmark of the neurodegenerative disorder, Parkinson's disease (PD), is aggregation of toxic forms of the presynaptic protein, α-synuclein in structures known as Lewy bodies. α-Synuclein pathology is found ...
  • Neuroendocrine tumour in a patient with neurofibromatosis type 1 and HIV 
    Hiesgen, Juliane; Variava, Ebrahim (Health and Medical Publishing Group, 2015-06-26)
    We report the case of an HIV-positive female patient with neurofibromatosis type 1 who was treated for recurrent peptic ulcer disease and later developed diabetes mellitus and chronic diarrhoea. A metastasising somatostatinoma ...
  • Nicht – Ketotische Hyperglykämie induzierte Hemichorea-Athetose 
    Hiesgen, Juliane (Springer, 2014-08)
    Berichtet wird über eine 63 jährige Patientin mit Diabetes mellitus und einer unilateralen Hemichorea-Athetose, bei der eine nicht-ketotische Hyperglykämie als Ursache diagnostiziert wurde. Diese seltene Komplikation im ...
  • Platelet hyperactivity and fibrin clot structure in transient ischemic attack individuals in the presence of metabolic syndrome : a microscopy and thromboelastography (R) study 
    Van Rooy, Mia-Jeanne; Duim, Wiebren; Ehlers, Rene; Buys, Antoinette V.; Pretorius, Etheresia (BioMed Central, 2015)
    BACKGROUND : Strokes are commonly preceded by transient ischemic attacks (TIAs). TIA is often associated with metabolic syndrome (causing chronic inflammation), resulting in a proinflammatory- and procoagulantenvironment. The ...
  • A putative founder effect for Parkinson's disease in South African Afrikaners 
    Carr, Jonathan; Van Coller, Riaan (Health and Medical Publishing Group, 2014-06)
    Neurodegenerative diseases are important causes of disability and death, with prominent examples including Alzheimer’s disease, Parkinson’s disease (PD) and motor neuron disease. Although familial clustering of these ...
  • Rigid spine syndrome : a noninvasive cardiac evaluation 
    Stubgen, Joerg-Patrick (Springer, 2008)
    Rigid spine syndrome (RSS) is a group of childhood-onset muscle disorders characterized by marked limitation of flexion of the spine. Various cardiac changes have been documented in case reports. This study reports on a ...
  • Rigid spine syndrome : a radiologic and manometric study of the pharynx and esophagus 
    Stubgen, Joerg-Patrick (Springer, 2008)
    The rigid spine syndrome (RSS) is not a recognized cause of dysphagia. The “vacuolar variant” of RSS causes mild, generalized, and slowly progressive weakness. Respiratory evaluation detected severe restrictive chest wall ...
  • The role of vasopressin in olfactory and visual processing 
    Wacker, Douglas; Ludwig, Mike (Springer, 2019-01)
    Neural vasopressin is a potent modulator of behaviour in vertebrates. It acts at both sensory processing regions and within larger regulatory networks to mediate changes in social recognition, affiliation, aggression, ...
  • Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease 
    Mahungu, Amokelani C.; Anderson, David G.; Rossouw, Anastasia C.; Van Coller, Riaan; Carr, Jonathan A.; Ross, Owen A.; Bardien, Soraya (Elsevier, 2020-04)
    Sequence variants in glucocerebrosidase (GBA) are a major genetic risk factor for Parkinson's disease (PD), and display ethnic-dependent frequencies, for example, variants such as p.N370S and 84insGG are common in Ashkenazi ...
  • Severe neuropathy due to inhalant abuse in adolescents from Pretoria 
    Schutte, Clara-Maria; Naidoo, Jayendra; Kakaza, Mandisa; Pillay, M.; Hiesgen, Juliane (MedPharm Publications, 2015)
    Inhalation of volatile agents, or solvent abuse, is a dangerous pastime practised by many young adolescents in various parts of the world. Benzine, a distillate of petroleum, is a cheap and readily available solvent that ...
  • Severe porphyric neuropathy – importance of screening for porphyria in Guillain-Barré syndrome 
    Schutte, Clara-Maria; Van der Meyden, C.H. (Kees); Van Niekerk, Linette; Kakaza, Mandisa; Van Coller, Riaan; Ueckermann, Veronica; Oosthuizen, Nicholette M. (Health and Medical Publishing Group, 2016-01)
    The hepatic porphyrias are a group of rare metabolic disorders, each of which is associated with a specific enzymatic alteration in the haem biosynthesis pathway. In South Africa (SA), a high incidence of variegate porphyria ...
  • A South African family with oculopharyngeal muscular dystrophy : clinical and molecular genetic characteristics 
    Schutte, Clara-Maria; Dorfling, Cecilia Maria; Van Coller, Riaan; Honey, E.M.; Van Rensburg, Elizabeth J. (Health and Medical Publishing Group, 2015-07)
    Autosomal dominantly inherited oculopharyngeal muscular dystrophy (OPMD) is caused by a trinucleotide repeat expansion in exon 1 of the polyadenylate binding protein nuclear 1 (PABPN1) gene on chromosome 14q. A large ...
  • South African guideline on deep brain stimulation for Parkinson’s disease 
    Anderson, D.G.; Van Coller, Riaan; Carr, J. (Health and Medical Publishing Group, 2017-11)
    BACKGROUND : Parkinson’s disease (PD) is a common neurodegenerative disease, associated with severe impairment of quality of life. Although the motor aspects of the illness are typically successfully treated with medications ...
  • Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus 
    Van Coller, Riaan; Slabbert, Pieter; Schutte, Clara-Maria (Karger, 2014-10)
    Paroxysmal nonkinesigenic dyskinesia (PNKD) causes episodes of treatment-resistant involuntary movements. Previous case reports showed effective treatment of PNKD with deep brain stimulation (DBS). We report 2 patients in ...