Neuromyelitis optica spectrum disorder (NMOSD) is a rare inflammatory autoimmune disease of the central nervous system (CNS) with a worldwide distribution.1 The first clinical description of NMOSD was made a century ago by Devic and Gault, who documented patients with monophasic and bilateral optic neuritis (ON) and myelitis.2 A few decades ago, NMOSD was considered a variant […]

Parkinson’s disease (PD) is a chronic progressive neurodegenerative disorder characterized by the degeneration of nigrostriatal dopaminergic neurons, with its incidence increasing globally.1 With disease progression, the benefit from medications shortens, and symptom control becomes strictly dependent on peripheral levodopa (L-dopa) levels, leading to the development of daily fluctuations of motor and non-motor symptoms severity and L-dopa-induced […]

Introduction The term ‘stroke’ is used to describe an adverse clinical state involving interference of blood circulation to the brain due to obstruction or rupture of blood vessels.1 Stroke was previously categorized into a cardiovascular disorder until the release of the International Classification of Disease 11 (ICF-11) in 2018, when stroke was recognized as a neurological […]

Multiple sclerosis (MS) is a complex disease that can pose significant challenges in diagnosis, monitoring and treatment. Over the years, the quest for more precise and accessible diagnostic tools has led to the exploration of different fluid biomarkers in cerebrospinal fluid (CSF) or serum. Fluid biomarkers can offer insights into the diagnosis, prognosis and treatment […]

In the latest edition of touchREVIEWS in Neurology, we are pleased to present a collection of insightful articles that highlight the current landscape and future directions in neurological research and treatment. Firstly, Rajvinder Karda opens this issue with a compelling expert interview on the future of SCN1A gene-targeting research for the treatment of Dravet syndrome. […]

Duchenne muscular dystrophy (DMD) is an X-linked recessive, progressive and universally fatal disease in the spectrum of dystrophinopathies,1 with an incidence of 21.4 patients in 100,000 live male births worldwide.2,3 Historically, patients with DMD would lose ambulation by the age of 10 due to muscle weakness and die by the age of 20 from respiratory failure […]

Friedreich’s ataxia (FRDA), a neurodevelopmental and progressive neurodegenerative disease, is the most common inherited form of ataxia, with disease incidence as high as 1 in 29,000 in Caucasian populations.1 Patients typically present with ataxia from ages 7 to 15 years and lose the ability to walk by their mid-twenties.2 Other common features include cardiomyopathy, diabetes, spasticity, hearing […]

Huntington’s disease (HD) is a genetic neurodegenerative disease that can affect movement, cognition and mental health. It is caused by a dominant mutation in the huntingtin gene, HTT. HD is estimated to occur in 5–10 people per 100,000 yearly, worldwide.1 Pridopidine (Prilenia Neurotherapeutics Ltd, Greenwork Park, Kibbutz Yakum, 6097200, Israel), a sigma-1 receptor (S1R) agonist, is currently under investigation in the phase III […]

Case study Patient information A 42-year-old woman presented in the emergency department with acute onset whole-body myoclonic jerks for 1 day. On enquiry, the patient’s parents advised that she had a history of depression over the past 15 years. Intermittently, family members had also noticed aggressive and abusive behaviour. She had been evaluated and diagnosed […]