Neurology

This article has now been retracted and a retraction statement has been published.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

Obesity and increased adipose tissue are linked with inflammation, the driving force behind neurologic disorders like Alzheimer’s disease…

Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer. It mainly occurs in patients with chronic liver…

Parkinson’s disease (PD) is a progressive neurodegenerative disorder attributed to the loss of dopaminergic neurons in the substantia nigra.

Both spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are monogenic neuromuscular diseases, which cause progressive proximal-to-distal muscular weakness, leading to loss of motor function and related pulmonary and musculoskeletal co-morbidities and reduced survival.

NF1 is an autosomal dominant disorder, arising from a mutation in the gene that encodes neurofibromin. It is a tumour-predisposing…

Neurofibromatosis Type 1 (NF1) is a rare disease, occurring in approximately 1 in 3,000 people. Among the numerous manifestations…

At the 7th Congress of the European Academy of Neurology (EAN), held virtually in June 2021, real-world data on the efficacy and safety of…

Multiple sclerosis is a common and chronic neurological disorder that affects over 2.8 million individuals worldwide every year…

Cannabidiol (CBD) comes from Cannabis sativa, which is a medicinal plant known to have several properties. Several types of extracts from…

Ioannis Sfontouris  | President of the European Academy of Neurology (EAN); Professor of Neurology and Head of the Neurology Department… %

Here the speakers present highlights of a virtual satellite symposium at the 7th Congress of the European Academy of Neurology…

Both my parents were clinical biochemists, and ran their lab next to our house, so I grew up in between microscopes, electrophoretic apparatuses…

Since medical school I have had a special interest in cognitive neurology and higher cortical functions, and actually started out doing a…

Vocal cord paralysis or weakness can be a symptom of malignancy, caused by viral infection, iatrogenic, a result of trauma, idiopathic…

Turner syndrome (TS) is one of the most frequent chromosomal aberrations, caused by the partial or complete loss of one X chromosome…

The patient was admitted to the hospital for further study of the neurological changes, treatment of serious anaemia…

Parsonage–Turner Syndrome (PTS) is a rare disease of the brachial plexus of unclear aetiology. The authors present a case of PTS with a rare combination of unilateral brachial plexus, phrenic nerve, and recurrent laryngeal nerve injuries.