AES Highlights

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 […]

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 […]

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 […]

In modern medicine, the concept of wellness is accompanied by many misconceptions. Adopting wellness as a treatment approach has been well defined and implemented in cardiovascular disease, diabetes and some types of cancer management but has not yet been widely applied to neurologic diseases.1–5 The commercialization of the wellness industry has led to the misconception of wellness as expensive and only accessible to a niche population […]

Welcome to the latest edition of touchREVIEWS in Neurology, featuring a range of interviews, reviews and reports on some of the key recent developments in neurological disease. We open with three expert interviews with key members of the pan-European organisation, Alzheimer Europe on the topic of care for people with dementia. In the first, Owen […]

Highlights Limb–joint contractures may represent an important clinical clue of muscle dystrophies, as they limit the spectrum of the diagnosis assumptions. Limb–girdle muscular dystrophies phenotype can rarely be a clinical presentation of retractile myopathies, except for non-specific Achilles tendon tightness. Anti-PM/Scl antibody screening using line-blot assays and commercial antibody–panel testing is likely to detect false-positive antibodies. Dysferlinopathies, calpainopathy and facioscapulohumeral muscular dystrophy are the conditions most frequently confused […]