Neurology

Becker is a serious, progressive muscular dystrophy that presents predominantly in males due to an X-linked…

This promotional advertorial article has been fully commissioned by Lundbeck Ltd. UK PI & AER info is available within the article…

This article summarises an Orchard Therapeutic-sponsored symposium titled ‘New horizons for metachromatic leukodystrophy – with the advent…

Altered gut microbiome profiles correlate with anxiety and depression in humans, and work in animal models has identified specific…

The human body is a holistic system, interconnected by the circulatory, nervous, lymphatic, endocrine, and immune systems that facilitate…

Multifocal motor neuropathy (MMN) is a rare immune-mediated disorder characterised by progressive, asymmetric muscle weakness…

Phase 2 randomised controlled trial (RCT) of BMS-986446, a monoclonal antibody targeting the tau microtubule binding region (MTBR)…

A satellite symposium titled ‘Transforming MS Care: Early Intervention and Sustained Safety’ held at the 40th Congress of the European…

There have been great advances in the field of generalised myasthenia gravis (gMG) in recent years, but many patients remain dissatisfied…

This article summarises a LivaNova-sponsored symposium entitled ‘The Power of Real-World Evidence with CORE-VNS’, delivered on 7th…

Developmental and epileptic encephalopathy (DEE) refers to a collection of rare and severe epilepsies that feature both seizures and…

Myasthenia gravis (MG) is an autoimmune disease caused by autoantibodies targeting proteins on the neuromuscular junction. Around 85%…

During this symposium, held at the 10th Congress of the European Academy of Neurology (EAN), speakers highlighted that chronic insomnia…

Nipocalimab, a high-affinity, fully human, aglycosylated, effectorless, monoclonal antibody, has been developed as an add-on treatment…

Parkinson’s disease (PD) is the second-most common neurodegenerative disease after Alzheimer’s disease (AD), with an estimated…

Individuals with neuromuscular diseases (NMD), where deterioration in bulbar function coexists with respiratory muscle weakness, are at…

The occurrence of intramedullary spinal cord abscesses (ISCA) is rare, a phenomenon attributable to a confluence of physiological and…

Fever is a common medical issue encountered in neurorehabilitation units. The most common cause of fever is infection; the common…

I completed my neurology training in Mumbai, India. At the end of my general medical degree, I was influenced by a top-rate neurologist…

When I started as a neurologist and a clinical pharmacologist, there were a lot of interesting developments in movement disorders…

The rare diseases Duchenne and Becker are X-linked recessive neuromuscular disorders.1 They are characterised by progressive…

A masterclass initiated, organised, and funded by UCB, sought to advance understanding and expertise of myelin oligodendrocyte…

Non-seizure symptoms in Dravet and Lennox-Gastaut syndromes can affect speech, gait, appetite, mood, development, and sleep and impact…

Many patients experience impairment following a stroke, including motor or cognitive impairment, urinary incontinence, dysphagia…

First described by German physician Peter Emil Becker in the 1950s, Becker is an X-linked genetic recessive disorder. Like Duchenne…

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that is estimated to affect approximately 300,000 individuals worldwide…

Lennox–Gastaut syndrome (LGS) is a severe childhood-onset epilepsy syndrome that can be challenging to identify due to its heterogeneous and..

The deficiency of arylsulfatase A due to the mutations in the ARSA gene is the cause of a rare inherited lysosomal storage disease…

It is essential to address psychological health, particularly post-traumatic stress disorder (PTSD), among patients who have recovered from…

Carreño began by discussing the spectrum of uncontrolled epilepsies. They stressed that uncontrolled epilepsy does not necessarily…

This article has now been retracted and a retraction statement has been published.

In the rare neuromuscular disorders classed as NDM, muscle stiffness (myotonia) is the major symptom and is defined by a delayed muscle…

The maintenance of mitochondrial DNA (mtDNA) is dependent upon several nuclear gene-encoded proteins including enzymes forming the…

My science degrees were pivotal in fuelling my passions and setting out my career path. During my undergraduate physiology degree…

Cerebrotendinous xanthomatosis (CTX) is a unique disease with an autosomal recessive inheritance, occurring due to the accumulation…

COVID-19 infection was first reported in December 2019 in Wuhan, China, as a pneumonia outbreak presenting with fever…

Primary and secondary lymphoma of the central nervous system (CNS) is a rare case of non-Hodgkin lymphoma. The World…

Tuberculosis (TB) is an infectious disease caused by the transmission of Mycobacterium tuberculosis bacillary complex…

Paraneoplastic autonomic neuropathy is a syndrome with an unclear aetiology and wide array of symptoms. Some studies have identified a strong autoimmune component in the development of paraneoplastic autonomic neuropathy, though some aetiologies are non-immune in nature.

Measurement of fluid biomarkers of neurodegeneration is an emerging approach offering improved diagnostic accuracy of neuropsychiatric conditions, particularly for atypical presentations. This article reports a case where the diagnosis of delirium with dementia was revised based on biomarker analysis, enabling treatment of a primary mood disorder with resolution of recurrent disabling psychiatric symptoms.

In the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5), Alzheimer’s disease (AD [named after the German psychiatrist and neuropathologist, Alois Alzheimer, who first described it]), is considered as a major or mild neuro-cognitive disorder…

Amyloid light-chain (AL) amyloidosis is a rare systemic disease caused by plasma cell dyscrasia. These plasma cells produce excess Ig light chains, which can misfold, aggregate, and deposit in tissues, resulting in toxicity and organ dysfunction. The heart is among the most commonly affected organs and cardiac involvement is associated with significantly worse outcomes.

While people with multiple sclerosis (MS) are not more likely to contract COVID-19, the incidences of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and COVID-19-related complications may be higher for people with MS who have comorbidities or who are taking certain disease modifying therapies (DMT).

Fox emphasised that PD is one of the fastest-growing neurological disorders. Disability and deaths related to it have more than doubled from 1990–2015. Its prevalence is expected to grow exponentially by 2040, affecting approximately 12.9 million individuals worldwide.

People with migraine, and individuals with other neurological conditions, have suffered in multiple aspects during the COVID-19 pandemic. This paper will discuss the factors that impacted the neurology department.

NDM includes a group of rare hereditary neuromuscular disorders caused by mutations in the genes that encode sodium or chloride muscle channels.1 Myotonia is the hallmark symptom of NDM and presents as muscle stiffness, often associated with pain, fatigue, and weakness, which can limit function.

Adult-onset idiopathic focal dystonia is the most common type of primary dystonia, and adult-onset idiopathic cervical dystonia (AOICD) is its most prevalent phenotype.

Patients can present with chief complaints and symptoms that differ from the eventual diagnoses. The differences between aetiologies versus complications must be appreciated through careful evaluation and use of clinical investigations, laboratory testing, trial of hypotheses, and clinical gestalt.

Diencephalic syndrome (DS), first described by Russell in 1951, is a rare cause of failure to thrive in infants and young children with preservation of linear growth.

MLD is caused by an accumulation of sulfatides in various organs and predominantly the central nervous system (CNS). Patients have an initial period of normal development, then experience developmental delay or stagnation (Figure 1).

Non-dystrophic myotonias (NDM) are a group of rare muscle disorders with a reported prevalence of 0.75−1.7 per 100,000 population (Figure 1).

Recognising acute stroke symptoms is crucial in providing timely treatment. However, evidence suggests that females often experience unique symptoms compared with males, resulting in delays to seeking medical attention and treatment.

Dysfunction of N-methyl-D-aspartate receptors (NMDAR) have been proposed as the aetiology for multiple neuropsychiatric diseases. While overactivity of NMDA receptors causing excitotoxicity has been implicated in epilepsy, dementia, and stroke, low activity may produce symptoms resembling those of schizophrenia.