• 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 ...
• Suprasellar cyst presenting with bobble-head doll syndrome 

  George, Roshan; Gaxa, Luvo; Lockhat, Zarina I.; Hlahla, Stevens Kgomotso; Van der Meyden, Cornelis Hendrikus; Kisten, Ravendran; Bida, Meshack (Elsevier, 2020-01)

  BACKGROUND : Bobble-head doll syndrome is a rare neurological syndrome presenting with repetitive anteroposterior head movements. It is usually associated with expansile cystic lesions in the third ventricular region. CASE ...
• A clinical, neurophysiological and genetic study of South African familial combined myoclonic syndromes 

  Van Coller, Riaan (University of Pretoria, 2021)

  Myoclonus is a complex disorder of rapid repetitive muscle jerks that can occur in proximal or distal appendicular or axial muscles. It can be of cortical, sub-cortical or spinal cord origin; part of progressive and severely ...
• 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 ...
• 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 ...
• 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 ...
• 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, ...
• 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, ...
• 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 ...
• 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 ...
• Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation 

  Baker, Malcolm Kevin; Schutte, Clara-Maria; Ranchhod, Neelay; Brittain, David; Van Rensburg, J.E. (BMJ Publishing Group, 2017)

  Mitochondrial neurogastrointestinal encephalopathy (MNGIE), usually an autosomal-recessive inherited condition, causes gastrointestinal dysmotility, ophthalmoplegia, ptosis, leukoencephalopathy and neuropathy. The chromosome ...
• Acute intermittent porphyria mimicking Guillain–Barré syndrome in a HIV patient 

  Soma, Prashilla; Ueckermann, Veronica; Sasikumar, S.S. (Sunayana); Mashoeshoe, K.S. (Sam) (Elsevier, 2016-01)

  The diagnosis of porphyria remains challenging as the condition is characterized by a myriad of clinical and biochemical features. More importantly, an acute attack is associated with increased morbidity and mortality. ...
• Cryptococcal meningitis in a tertiary hospital in Pretoria, mortality and risk factors – a retrospective cohort study 

  Hiesgen, Juliane; Schutte, Clara-Maria; Olorunju, S.; Retief, J. (Sage, 2017-06)

  AIM : This retrospective cohort study analyzes the impact of possible risk factors on the survival chance of patients with cryptococcal meningitis. These factors include the patient's socio-economic background, age, gender, ...
• A descriptive investigation of the ultrastructure of fibrin networks in thrombo-embolic ischemic stroke 

  Pretorius, Etheresia; Swanepoel, A.C. (Albe Carina); Oberholzer, Hester Magdalena; Van der Spuy, Wendy Jeannette; Duim, Wiebren; Wessels, Pieter Frederik (Springer, 2011-05)

  Stroke is one of the leading causes of death worldwide. Formation of a fibrin clot is controlled by a group of tightly regulated plasma proteases and cofactors and a change in the fibrin fiber formation causes an alteration ...
• Clinical findings and genetic screening for copy number variation mutations in a cohort of South African patients with Parkinson’s disease 

  Mahne, A.C.; Carr, J.A.; Bardien, S.; Schutte, Clara-Maria (Health and Medical Publishing Group, 2016-06)

  BACKGROUND. Parkinson’s disease (PD), with a prevalence of up to 4% in Western countries, appears to be less common in Africa, possibly in part because of genetic factors. African studies investigating the genetic causation ...
• 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 ...
• 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 ...
• 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 ...
• 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 ...
• 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 ...

View more