Assessment of delirium in the elderly is paramount for appropriate & effective management of in-patients. A bed-side test that quickly and reliably ascertains delirium is important, especially in a busy hospital environment. Once diagnosed, appropriate investigations could be instigated and management implemented. In an upcoming issue of JNNP, O’Regan and colleagues establish a potential diagnostic […]
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c9orf72 and body schema processing: Novel pathophysiological insights!
Increased hexanucleotide expansion in the c9orf72 gene on chromosome 9p21 has radically altered the understaning of ALS and FTD pathogenesis. In the case of ALS, it has convincigly elevtaed the disorder to a central level, suggetsing the importance of frontal cortical dysufnction in ALS. In addition, the understanding of FTD symtomatology, and how it related […]
First ever seizure: How long before I can drive doc?
The occurrence of a first seizure is perceived as a devastating occurrence by both patient and family. An issue faced by both patient and physician relates to the length of driving restriction, so often an emotionally charged discussion that could result in the breakdown of Dr-patient relationship. Consensus guidelines and treatment practices vary widely, resulting […]
A novel dorsal root ganglionopathy: CANVAS syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) syndrome is a novel cerebellar ataxia clinically characterized by a combination of cerebellar dysfunction, bilateral vestibular dysfunction, and peripheral sensory neuropathy/neuronopathy. This novel syndrome may be confused with Machado-Joseph disease or Friedreich ataxia, although the genetics remain elusive. In the April issue of neurology (22nd […]
Amyotrophic lateral sclerosis: A disorder of the frontal faculties?
Amyotrophic lateral sclerosis (ALS) was traditionally regarded as a disorder of only the motor neurons and their connections to the brain. Although Charcot, who described and coined the term ALS, proposed a central origin of ALS, is was Professor Andrew Eisen who set the cats amongst the pigeons by suggesting that ALS was primarily a […]
Multifocal motor neuropathy: A blood-nerve barrier disease?
Multifocal motor neuropathy (MMN) is a rare autoimmune disorder of the peripheral motor nerves leading to muscle weakness, secondary to conduction block, and ultimately axonal degeneration. Debate emerged over the past decade as to whether MMN is a demyelinating or axonal neuropathy, although the debate seem rather academic as both processes may and do co-exist […]
Amyotrophic lateral sclerosis/Lou Gehrigs’ disease: Is it all in the genes?
Amyotrophic lateral sclerosis/Lou Gehrigs’ disease is a devastating neuromuscular disorder of the motor neurons with a median survival of 3-5 years. While the pathophysiological mechanisms underlying ALS development remain uncertain, the possibility of being with a predisposition to develop ALS is a popular theory. Clearly, additional events are needed to develop ALS, although these […]
Myasthenia gravis: not so grave anymore
A common theme in JNNP blogs has been the major paradigm shift in neurological practice, with a change from diagnosis (without treatment) to another in which making a diagnosis was a prelude to providing effective treatment. There have been few disorders in which this has been more clearly visible than that of myasthenia gravis, an […]
The complexities of ALS management: A genetic twist
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and devastating neurodegenerative disorder of the human motor neurons and the systems that supply it. Advances in the genetics of ALS have been staggering over the last two decades, although are we much the wiser? The presence of a specific ALS genetic mutation may predispose a family […]
Neurology and genetics: JNNP leads the way.
Recently I was at a weekend lunch when I was quizzed by a recently retired general practitioner about what exactly I did on a day-to-day basis. I went through the usual spiel about research and teaching and the need to quarantine time for these pursuits, given the potentially large clinical load that one could end […]