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Practical Neurology

Matthew D Smith, Tom A T Hughes
No abstract text is available yet for this article.
March 16, 2018: Practical Neurology
Ronan O'Malley, Ganesh Rao, Penelope Stein, Oliver Bandmann
The diagnosis of acute intermittent porphyria (AIP) is often overlooked. We describe a patient with this condition who had all the 'bells and whistles', in whom the diagnosis was only made after considerable delay. Far from an esoteric condition haunting examination candidates, AIP is an important cause of a broad spectrum of neurological symptoms. Its early recognition allows the astute clinician to prevent potentially devastating sequelae. We provide practical guidance on the investigation and management of this complex disorder...
March 14, 2018: Practical Neurology
Elizabeth A Fracica, Maximiliano A Hawkes, Eelco F M Wijdicks
No abstract text is available yet for this article.
March 14, 2018: Practical Neurology
Ahmed Abbas, Elfatih Suliman Ahmed, Noushad Shereef Mytheen
No abstract text is available yet for this article.
March 14, 2018: Practical Neurology
Stephen Keddie, Shirley D'Sa, David Foldes, Aisling S Carr, Mary M Reilly, Michael P T Lunn
POEMS syndrome is a rare and disabling autoinflammatory condition characterised by a typical peripheral neuropathy and the presence of a monoclonal plasma cell disorder. The acronym 'POEMS' represents the complex and multisystem features of the disease, including polyneuropathy, organomegaly, endocrinopathy, a monoclonal plasma cell disorder and skin disease. The diagnosis of POEMS is a significant challenge because of the heterogeneity of clinical presentations and variation of POEMS features. Patients are often misdiagnosed with another cause of inflammatory neuropathy and receive one or more ineffective immunomodulatory medications, resulting in delayed diagnosis and further clinical deterioration before a diagnosis is made...
March 6, 2018: Practical Neurology
Romina Mariano, Eoin P Flanagan, Brain G Weinshenker, Jacqueline Palace
Every neurologist will be familiar with the patient with atypical spinal cord disease and the challenges of taking the diagnosis forward. This is predominantly because of the limited range of possible clinical and investigation findings making most individual features non-specific. The difficulty in obtaining a tissue diagnosis further contributes and patients are often treated empirically based on local prevalence and potential for reversibility. This article focuses on improving the diagnosis of adult non-traumatic, non-compressive spinal cord disorders...
March 2, 2018: Practical Neurology
David Hilton-Jones
Statins are the Marmite ('You either love it or hate it!') of the drug world, both in terms of therapeutic benefit and risk of side effects. Proponents think that they are potential life-savers, opponents that their main benefit is lining the pockets of pharma. Some consider side effects to be a major issue, outweighing any therapeutic benefit, others that they are rare and essentially innocuous. Statin-induced myalgia is relatively common but often mild and for most people does not limit treatment. In others, reducing the dose or changing the preparation may help...
March 1, 2018: Practical Neurology
Emily Hobbs, Jaime H Vera, Michael Marks, Andrew William Barritt, Basil H Ridha, David Lawrence
Syphilis is a resurgent sexually transmitted infection in the UK that is disproportionately diagnosed in patients living with HIV, particularly in men who have sex with men. Syphilis appears to present differently in patients with HIV, particularly in those with severe immunosuppression. Progression to neurosyphilis is more common in HIV coinfection and can be asymptomatic, often for several years. The presentations of neurosyphilis vary but can include meningitis, meningovascular disease, general paresis and tabes dorsalis...
February 24, 2018: Practical Neurology
Chiara Zucchella, Angela Federico, Alice Martini, Michele Tinazzi, Michelangelo Bartolo, Stefano Tamburin
Neuropsychological testing is a key diagnostic tool for assessing people with dementia and mild cognitive impairment, but can also help in other neurological conditions such as Parkinson's disease, stroke, multiple sclerosis, traumatic brain injury and epilepsy. While cognitive screening tests offer gross information, detailed neuropsychological evaluation can provide data on different cognitive domains (visuospatial function, memory, attention, executive function, language and praxis) as well as neuropsychiatric and behavioural features...
February 22, 2018: Practical Neurology
Satish V Khadilkar, Bhagyadhan A Patel, Jamshed A Lalkaka
The expansion of the spectrum of limb girdle muscular dystrophies (LGMDs) in recent years means that neurologists need to be familiar with the clinical clues that can help with their diagnosis. The LGMDs comprise a group of genetic myopathies that manifest as chronic progressive weakness of hip and shoulder girdles. Their inheritance is either autosomal dominant (LGMD1) or autosomal recessive (LGMD2). Their prevalence varies in different regions of the world; certain ethnic groups have documented founder mutations and this knowledge can facilitate the diagnosis...
February 22, 2018: Practical Neurology
Ricardo Soares-Dos-Reis, Ana Inês Martins, Ana Brás, Anabela Matos, Conceição Bento, João Lemos
Ocular neuromyotonia is a rare, albeit treatable, ocular motor disorder, characterised by recurrent brief episodes of diplopia due to tonic extraocular muscle contraction. Ephaptic transmission in a chronically damaged ocular motor nerve is the possible underlying mechanism. It usually improves with carbamazepine. A 53-year-old woman presented with a 4-month history of recurrent episodes of binocular vertical diplopia (up to 40/day), either spontaneously or after sustained downward gaze. Between episodes she had a mild left fourth nerve palsy...
February 21, 2018: Practical Neurology
Alexander M Rossor, Mary M Reilly, James M Sleigh
Many genetic neurological diseases result from the dysfunction of single proteins. Genetic therapies aim to modify these disease-associated proteins by targeting the RNA and DNA precursors. This review provides a brief overview of the main types of genetic therapies, with a focus on antisense oligonucleotides (ASOs) and RNA interference (RNAi). We use examples of new genetic therapies for spinal muscular atrophy, Duchenne muscular dystrophy and familial amyloid polyneuropathy to highlight the different mechanisms of action of ASOs and RNAi...
February 17, 2018: Practical Neurology
Amy Louise Ross Russell, Martin Prevett, Paul Cook, Charles Simon Barker, Ashwin Arnold Pinto
Magnesium is the second most abundant intracellular cation. Deficiency can cause several neurological complications, including cerebellar syndromes, with various MRI findings. These include cerebellar oedema, presumably through a similar mechanism to that in posterior reversible encephalopathy syndrome (PRES). People particularly vulnerable to deficiency include those with high alcohol consumption, excessive loss due to gastrointestinal pathology and those taking certain medications, including proton pump inhibitors...
February 15, 2018: Practical Neurology
Fady Georges Joseph, Husni W Habboush
No abstract text is available yet for this article.
February 15, 2018: Practical Neurology
Naveed Malek, Maxwell Damian
We discuss the assessment and differential diagnoses of a middle-aged man who presented with trismus, double vision and behavioural problems. MRI scan of the brain was initially normal, but a month later showed high signal in the hippocampal region on fluid attenuated inversion recovery sequence (FLAIR) imaging. We suspected a paraneoplastic brainstem encephalitis because of his smoking history, rapidly progressive symptoms and abnormal brainstem signs. A positron emission tomography-CT scan identified abnormal subcarinal nodes, shown on biopsy to be metastatic small cell lung cancer...
February 13, 2018: Practical Neurology
Angeliki Zarkali, Oliver Cousins, Dilan Athauda, Samuel Moses, Nicholas Moran, Sreedharan Harikrishnan
Glial fibrillary acidic protein antibody-positive meningoencephalomyelitis is a newly described, possibly under-recognised, severe inflammatory condition of the nervous system. The clinical presentation is variable but most commonly is a combination of meningitis, encephalitis and myelitis; other manifestations may include seizures, psychiatric symptoms and tremor. There is a significant association with malignancies, often occult, and with other autoimmune conditions. Although the disease responds well to corticosteroids acutely, it typically relapses when these are tapered, and so patients need long-term immunosuppression...
February 9, 2018: Practical Neurology
Kushan Karunaratne, Dimitri Amiras, Matthew C Pickering, Monika Hofer, Stuart Viegas
Statins lower serum cholesterol concentrations by inhibiting the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). Muscle side effects are relatively common and include asymptomatic elevation of serum creatine kinase (CK), myalgia, proximal muscle weakness and rhabdomyolysis. More recently, a subset of cases of immune-mediated necrotising myopathy has been found to have antibodies against HMGCR. It is often an aggressive and debilitating myopathy and has a complex pathogenesis characterised by fibre necrosis, usually with minimal associated inflammation...
February 8, 2018: Practical Neurology
Dimitri Renard, Constance Chevalier, Anne Wacongne
No abstract text is available yet for this article.
February 6, 2018: Practical Neurology
Dean Walton, Michael Bonello, Malcolm Steiger
A 78-year-old woman presented with involuntary movements of her abdomen, which started after a right hemispheric stroke. She had irregular, variable, hyperkinetic predominantly right-sided abdominal wall movements. MR scan of brain confirmed a recent infarct in the right occipitotemporal lobe and the right cerebellum. Diaphragmatic fluoroscopy confirmed high-frequency flutter as the cause of her abdominal movements and confirmed the diagnosis of van Leeuwenhoek's disease. Anthonie van Leeuwenhoek first described this condition in 1723 and had the condition himself...
February 1, 2018: Practical Neurology
Hannah R Cock
No abstract text is available yet for this article.
February 1, 2018: Practical Neurology
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