Browsing Health Sciences by UP Author "Van Coller, Riaan"

Browsing Health Sciences by UP Author "Van Coller, Riaan"

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  • Awaking a sleeping epidemic 
    Van Coller, Riaan; Van Rensburg, Elna; Schutte, Clara-Maria; Brink, Delene; Welthagen, Gerhard Frederick; Dove, Mike G. (South African Medical Association, 2007-04)
    Two patients with African sleeping sickness (SS) presented to the neurology unit, Pretoria Academic Hospital, during 2004 and 2005. SS has shown a recent resurgence, with epidemics in the Sudan, Angola and the Democratic ...
  • Comparison of HTLV-associated myelopathy (HAM) in HIV-positive and HIV-negative patients at a tertiary South African hospital 
    Schutte, Clara-Maria; Townsend, T.; Van Coller, Riaan; Olorunju, Steve A.S. (Health and Medical Publishing Group, 2013-01)
    BACKGROUND. HTLV-1 associated myelopathy (HAM), or tropical spastic paraparesis, is caused by a retrovirus, the human T-cell lymphotropic virus (HTLV). Although patients with HAM and HIV infection have been described, to ...
  • Efficacy of deep brain stimulation of the anterior-medial globus pallidus internus in tic and non-tic related symptomatology in refractory Tourette syndrome 
    Kisten, Ravendran; Van Coller, Riaan; Cassimjee, Nafisa; Lubbe, Elsabeth (Elsa); Vaidyanathan, Janardan; Slabbert, Pieter; Enslin, Nico; Schutte, Clara-Maria (Elsevier, 2022)
    INTRODUCTION : Although refractory Tourette Syndrome (TS) is rare, it poses great challenges in clinical practice. Co-morbid psychiatric symptoms often occur, negatively impacting quality of life. Deep brain stimulation ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 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 ...
  • 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 ...
  • TOR1A mutation-related isolated childhood-onset generalised dystonia in South Africa 
    Van Coller, Riaan; Schutte, Clara-Maria; Lubbe, Elsabeth (Elsa); Ngele, B. (Health and Medical Publishing Group, 2021-10)
    BACKGROUND : Childhood-onset generalised dystonia is commonly caused by TOR1A mutations and is known to respond well to pallidal deep-brain stimulation (DBS) surgery. The incidence and prevalence of monogenic dystonia in ...