Mitochondrial neurogastrointestinal encephalopathy (MNGIE), usually an autosomal-recessive inherited condition, causes gastrointestinal dysmotility, ophthalmoplegia, ptosis, leukoencephalopathy and neuropathy. The chromosome 22 disorder, due to mutations in the nuclear gene TYMP encoding thymidine phosphorylase (TP), leads to the accumulation of thymidine and deoxyuridine, with mitochondrial dysfunction.This report describes a patient with an MNGIE-like syndrome with a heterozygous TYMP mutation who showed marked, but transient improvement postallogeneic haematopoietic stem cell transplantation (HSCT).
View Article and Find Full Text PDFBackground: 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 of PD are limited.
Objective: To describe the clinical and genetic findings in a group of black South African patients with PD.
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 (VP) is seen as a result of a founder effect, but acute intermittent porphyria (AIP) is also encountered. The development of acute neurovisceral attacks is related to environmental factors, including medications, hormones and diet.
View Article and Find Full Text PDFNeurocysticercosis (NCC) is an important neurological disease in countries with high prevalence of Taenia solium infection and is emerging as a serious public health and economic problem. The aim of this study was to estimate the prevalence of NCC in Angónia district, Tete province, Mozambique based on: prevalence of human T. solium cysticercosis assessed by antigen Enzyme-linked Immunosorbent Assay (Ag-ELISA) seropositivity, history of epilepsy, and brain computed tomography (CT) scan results.
View Article and Find Full Text PDFAutosomal 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 family with OPMD was recently identified in Pretoria, South Africa (SA). Molecular studies revealed a (GCG)11(GCA)3GCG or (GCN)15 mutant allele.
View Article and Find Full Text PDFFacioscapulohumeral muscular dystrophy (FSHD) is characterised by weakness and atrophy of the facial and shoulder girdle muscles. The FSHD phenotype segregates as an autosomal dominant trait and is caused by a deletion of an integral number of 3.3 kilobase pair (kb) repeat units on chromosome 4q35.
View Article and Find Full Text PDFUnlabelled: Postictal headache (PIH), although it occurs in 34-59% of epilepsy patients, has not been adequately studied. This study aims to describe clinical characteristics and associations of PIH in generalised epilepsy in a South African tertiary neurology clinic.
Methods: Two-hundred consecutive adults with generalised epilepsy underwent semi-structured interviews, dividing them into study (with PIH) and control patients (no PIH), and data was statistically analysed.