Tackling ataxia

Abstract

Before her untimely death, just as she was poised to take over as head of the Department of Clinical Neurology at the Institute of Neurology (London, UK), Anita Harding (1952–95) was a woman of many firsts: she was the first female professor of clinical neurology in Britain; and out of her neurogenetics laboratory at the Institute of Neurology came the first description of pathogenic mitochondrial DNA mutations in Kearns-Sayre syndrome1Holt IJ Harding AE Morgan-Hughes AJ Deletions of mitochondrial DNA in patients with mitochondrial myopathies.Nature. 1988; 331: 717-719Crossref PubMed Scopus (1499) Google Scholar and the first report of prenatal diagnosis of NARP (neurogenic weakness, ataxia, and retinitis pigmentosa) based on mitochondrial DNA analysis.2Harding AE Holt IJ Sweeney MG Brockington M Davis MB Prenatal diagnosis of mitchondrial DNA8993 T→G disease.Am J Hum Genet. 1992; 50: 629-633PubMed Google Scholar Harding, who was brought up in Birmingham, UK, studied medicine at the Royal Free Hospital Medical School (London, UK), qualifying in 1975. She followed her studying with periods as house physician to Professor Peter K Thomas, who would later become her husband, and at the Medical Research Council Clinical Genetics Unit at the Institute of Child Health (London, UK). As an early advocate for the potential of recombinant DNA technology as a way to uncover the pathophysiology of the disorders she saw in the clinic, she acquired the expertise in molecular genetics to enable her to set up her neurogenetics laboratory. Later, along with Mary Davis Goddard, she would establish one of the largest service laboratories for neurogenetic diseases in the UK, at the National Hospital for Neurology and Neurosurgery, London. In collaboration with John Morgan-Hughes, John Clark, and the then graduate student Ian Holt,1Holt IJ Harding AE Morgan-Hughes AJ Deletions of mitochondrial DNA in patients with mitochondrial myopathies.Nature. 1988; 331: 717-719Crossref PubMed Scopus (1499) Google Scholar, 2Harding AE Holt IJ Sweeney MG Brockington M Davis MB Prenatal diagnosis of mitchondrial DNA8993 T→G disease.Am J Hum Genet. 1992; 50: 629-633PubMed Google Scholar she blazed a trail in the field of neuromuscular disorders and the understanding of the peripheral neuropathies, dystonias, mitochondrial disease, and the classification of the hereditary ataxias.3Veláquez-Pérez L Rodríguez-Labrada R Canales-Ochoa N et al.Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study.Lancet Neurol. 2014; 13: 482-489Google Scholar, 4Harding AE Clinical features and classification of the inherited ataxias.Adv Neurol. 1993; 61: 1-14PubMed Google Scholar The obituaries of Harding make much of her joie de vivre, and her great humour is perhaps best exemplified by her reaction on learning of her terminal bowel cancer; she is widely reported to have quipped “at least I won't have to buy Windows 95”.5Poulton J Huson SM Anita Harding (1952–95): In memoriam.Am J Human Genet. 1996; 58: 235Google Scholar