• 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 ...
• 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 ...
• Autoimmune encephalitis : epidemiology, pathophysiology and clinical spectrum (Part 1) 

  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 ...
• Autoimmune encephalitis : epidemiology, pathophysiology and clinical spectrum (Part 2) 

  Hiesgen, J.; Schutte, Clara-Maria (South African Medical Association, 2023-04)

  Autoimmune encephalitis (AE) represents a growing number of severe autoimmune-inflammatory diseases affecting both the white and grey matter of the brain. In part 1 of this series, we focused on the epidemiology, ...
• 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. ...
• Fiat lux : light and pedagogy for the 21st century 

  Lech, James C.; Halma, Matthew T.J.; Obajuluwa, Adejoke O.; Baker, Malcolm Kevin; Hamblin, Michael R. (Sage, 2023-04)

  BACKGROUND : The relationship between the quality of the learning environment and student outcomes is receiving more serious attention from educational psychologists, neurologists, ophthalmologists, orthopedists, surgeons, ...
• 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 ...
• Acute obstructive hydrocephalus in posterior reversible encephalopathy syndrome 

  Hiesgen, Juliane; Annor, T.N. (Health and Medical Publishing Group, 2023-01)

  Posterior reversible encephalopathy syndrome (PRES) is an uncommon, subacute neurological disorder that presents radiologically with a pattern of bilateral parieto-occipital areas of vasogenic oedema. Conditions commonly ...
• 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 ...
• 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 ...
• 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, Nndweleni 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 ...

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