Browsing Research Articles (Neurology) by Title

Browsing Research Articles (Neurology) by Title

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  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...