Browsing Research Articles (Neurology) by Title

Browsing Research Articles (Neurology) by Title

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  • Guest editorial : Autoimmune encephalitis 
    Hiesgen, Juliane; Schutte, Clara-Maria (South African Medical Association, 2023-03)
    Since the identification of anti-N-methyl-D-aspartate (NMDA) receptor antibodies about 15 years ago, many patients with rapidly progressing psychiatric symptoms, abnormal movements, seizures or unexplained coma, have been ...
  • 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 ...
  • Late-onset efavirenz toxicity : a descriptive study from Pretoria, South Africa 
    Munsami, Lyneshree; Schutte, Clara-Maria; De Villiers, Maryke; Hiesgen, Juliane (AOSIS, 2023-01-19)
    BACKGROUND : The neuropsychiatric side effects of efavirenz occur mainly early during treatment and are usually mild. A lesser-known and serious complication is late-onset efavirenz toxicity causing ataxia and encephalopathy. ...
  • 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 ...
  • Neuro-Behcet – clinical and radiological findings in a patient of sub-Saharan African origin 
    Pretorius, Johannes Jacobus; Hiesgen, Juliane; Myburgh, Michael; Suleman, Farhana Ebrahim (Elsevier, 2022-03)
    Behçet’s disease is a rare, systemic variable vessel vasculitis mostly seen in patients from the Middle East, Northern Africa and Central Asia. Neuro-Behçet disease (NBD) is often diagnosed in patients with known Behçet’s ...
  • 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 ...
  • PTPA variants and impaired PP2A activity in early-onset Parkinsonism with intellectual disability 
    Fevga, Christina; Tesson, Christelle; Mascaro, Ana Carreras; Courtin, Thomas; Van Coller, Riaan; Sakka, Salma; Ferraro, Federico; Farhat, Nouha; Bardien, Soraya; Damak, Mariem; Carr, Jonathan; Ferrien, Melanie; Boumeester, Valerie; Hundscheid, Jasmijn; Grillenzoni, Nicola; Kessissoglou, Irini A.; Kuipers, Demy J.S.; Quadri, Marialuisa; French and Mediterranean Parkinson disease Genetics Study Group, International Parkinsonism Genetics Network; Corvol, Jean-Christophe; Mhiri, Chokri; Hassan, Bassem A.; Lesage, Suzanne; Mandemakers, Wim; Brice, Alexis; Bonifati, Vincenzo (Oxford University Press, 2023-04)
    The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such ...
  • 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, Engela M.; Jansen van Rensburg, Elizabeth (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 ...