touchREVIEWS in Neurology Volume 19, Issue 2, 2023

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. […]

Dravet syndrome is a rare genetic disorder that affects approximately 1 in 15,700 individuals. It is one of the most severe epilepsy syndromes of early childhood, with high morbidity and mortality rates.1,2 It is characterized by seizures that begin in infancy and can lead to intellectual disability, developmental delays and a range of other neurological problems.3 The SCN1A gene […]

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 […]

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 […]

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 […]

Multiple sclerosis (MS) is a chronic, immune-mediated disorder of the central nervous system characterized by inflammation, demyelination and neurodegeneration. Natalizumab is a widely used anti-α4 integrin inhibitor for treating highly active MS. In the pivotal trials of natalizumab for MS, the SENTINEL and AFFIRM trials, natalizumab was established to reduce the rate of clinical relapses and […]