What are the most perplexing diseases that excite neurologists?

Neurologists typically see what they will call run-of-the-mill stuff. These are cases they don’t typically struggle too hard to make a diagnosis or to treat. These common cases don’t really keep us on our toes. No, what gets neurologists bristling, we admit, are the esoteric diseases. We are thrilled when we sniff a rarity in the air. We develop goosebumps when we think we are on the trail of the next case report. We are envious when such cases are presented at the neurological altar, the neuropathological conference.

"Une leçon clinique à la Salpêtrière" by André Brouillet - Photo prise dans un couloir de l'université Paris V. Licensed under Public Domain via Commons - https://commons.wikimedia.org/wiki/File:Une_le%C3%A7on_clinique_%C3%A0_la_Salp%C3%AAtri%C3%A8re.jpg#/media/File:Une_le%C3%A7on_clinique_%C3%A0_la_Salp%C3%AAtri%C3%A8re.jpg
“Une leçon clinique à la Salpêtrière” by André Brouillet – Photo prise dans un couloir de l’université Paris V. Licensed under Public Domain via Commons – https://commons.wikimedia.org/wiki/File:Une_le%C3%A7on_clinique_%C3%A0_la_Salp%C3%AAtri%C3%A8re.jpg#/media/File:Une_le%C3%A7on_clinique_%C3%A0_la_Salp%C3%AAtri%C3%A8re.jpg

 

But what are these mysterious cases that set our blood on fire? Which are the most perplexing? What are these diseases so rare only a few have the knowledge and experience to recognise them? To investigate, I had a quick look at the index of neurology checklists I have been labouring to produce, and I came up with a list of 75. I have grouped these into three depending on their degree of  perplexity.

 

"Pagoda Burr Puzzle" by Meronim - Own work. Licensed under CC BY-SA 3.0 via Commons - https://commons.wikimedia.org/wiki/File:Pagoda_Burr_Puzzle.jpg#/media/File:Pagoda_Burr_Puzzle.jpg
“Pagoda Burr Puzzle” by Meronim – Own work. Licensed under CC BY-SA 3.0 via Commons – https://commons.wikimedia.org/wiki/File:Pagoda_Burr_Puzzle.jpg#/media/File:Pagoda_Burr_Puzzle.jpg

 

To keep the list manageable I have left out conditions addressed in my previous posts on the most practical and helpful neurology guidelines and top all-time neurology review articles. I have also been selective in choosing the single reference that I think best reflects each condition. I must also confess that I cheated a little; many are paediatric conditions, but they are all neurological.

Gorilla Scratching Head. Eric Kilby on Flikr. https://www.flickr.com/photos/ekilby/18047130741
Gorilla Scratching Head. Eric Kilby on Flikr. https://www.flickr.com/photos/ekilby/18047130741

 

The first class of esoteric neurological diseases are conditions that should be familiar, or vaguely so, but the neurologist needs to do a bit of hard thinking and reading-up to solve.

  1. Aceruloplasminaemia
  2. Alexander disease
  3. Benign hereditary chorea
  4. CANVAS syndrome
  5. Cerebrotendinous xanthomatosis (CTX)
  6. CLIPPERS
  7. Dentatorubral pallidolyusian atrophy (DRPLA)
  8. Fatal familial insomnia (FFI)
  9. Fragile X tremor ataxia syndrome (FXTAS)
  10. Generalized epilepsy with febrile seizures plus (GEFS+)
  11. Gerstmann Straussler Scheinker (GSS) syndrome
  12. Lafora body disease
  13. Menke’s disease
  14. Miller Dieker syndrome
  15. MNGIE
  16. Myofibrillar myopathy
  17. Neuro Sweet syndrome
  18. Ornithine transcarbamylase (OTC) deficiency
  19. Potassium aggravated myotonias
  20. Progressive encephalomyelitis rigidity and myoclonus (PERM)
  21. Pyridoxine-responsive epileptic encephalopathy
  22. Rapid onset dystonia parkinsonism (RDP)
  23. Refsum’s disease
  24. Rippling muscle disease (RMD)
  25. Tyrosine hydroxylase deficiency (THD)

 

 

The next set of 25 conditions are rather rare but a phone call to a nearby expert is likely to resolve the diagnostic and management difficulty. These are:

  1. Adult polyglucosan body disease
  2. Alpers syndrome
  3. Barth syndrome
  4. Biotin responsive basal ganglia disease
  5. Brown-Vialetto Von-Laere (BVVL) syndrome
  6. CARASIL
  7. Facial onset sensory and motor neuronopathy (FOSMN)
  8. Hemiconvulsion hemiplegia (HH) syndrome
  9. Hereditary myopathy with early respiratory failure (HMERF)
  10. Jeavon’s syndrome (eyelid myoclonia with absences)
  11. Joubert syndrome
  12. Kufor Rakeb
  13. Landau Kleffner syndrome
  14. Melkersson Rosenthal syndrome
  15. Nemaline myopathy
  16. Neuronal ceroid lipofuscinosis (NCL)
  17. Ohtahara syndrome
  18. Panayiotopoulos syndrome (PS) 
  19. Pantethonate kinase associated neurodegeneration (PKAN)
  20. Perry syndrome
  21. Raeder’s paratrigeminal syndrome
  22. Rett syndrome
  23. Sialidosis
  24. Tangier disease
  25. Tarui disease

 

And below are probably the 25 most esoteric neurological conditions. I consider these among the conditions most neurologists would generally have very little knowledge or experience of, and there would probably be a few experts worldwide who would have experience in them.

  1.  17q deletion syndrome 
  2. 4H Syndrome
  3. Brody disease
  4. Calsequestrin storage myopathy
  5. Coffin Lowry syndrome 
  6. Congenital cataracts facial dysmorphism neuropathy (CCFDN)
  7. Curranino syndrome
  8. Danon disease
  9. Doose syndrome
  10. Nasu Hakola disease
  11. Pelizaeus Marzbacher disease 
  12. PHARC syndrome
  13. Pourfour du petit syndrome
  14. Sandhoff disease
  15. Satoyoshi syndrome
  16. Schwartz Jampel syndrome
  17. Sepiapterin deficiency
  18. SEPN-1 related myopathy 
  19. Sialic acid storage diseases
  20. Sjogren Larsson syndrome
  21. Unverricht Lundborg disease
  22. Vici syndrome
  23. Wolf Hirschhorn syndrome
  24. Woodhouse Sakati syndrome
  25. Zellweger syndrome

Here is a pdf of all 75 esoteric neurology conditions. The is a personal, non-evidenced, list; understandably there will be differing opinions-especially from our Ivory towers! The list is therefore not immutable so please post your comments; I am open to expanding or deflating it with justifiable reason. And don’t worry, there are checklists on all these esoteric conditions coming soon.

Fronto-temporal brain sagging syndrome

Frontotemporal dementia (FTD) is a progressive untreatable condition. It causes the frontal and temporal lobes of the brain to shrink and it manifests as a behavioural disorder or with speech difficulties. I was unaware of any mimics of FTD  (differential diagnoses) that were not equally untreatable.

"LobesCaptsLateral" by Sebastian023. Licensed under CC BY-SA 3.0 via Commons - https://commons.wikimedia.org/wiki/File:LobesCaptsLateral.png#/media/File:LobesCaptsLateral.png
“LobesCaptsLateral” by Sebastian023. Licensed under CC BY-SA 3.0 via Commons – https://commons.wikimedia.org/wiki/File:LobesCaptsLateral.png#/media/File:LobesCaptsLateral.png

 

I was therefore surprised by this article in Neurology which reported 8 patients with the frontotemporal brain sagging syndrome. In this condition, FBSS, there is leakage of cerebrospinal fluid (CSF) which results in low pressure in the brain (intracranial hypotension). The result is that the brain, well, sags.

"1317 CFS Circulation" by OpenStax College - Anatomy & Physiology, Connexions Web site. http://cnx.org/content/col11496/1.6/, Jun 19, 2013.. Licensed under CC BY 3.0 via Commons - https://commons.wikimedia.org/wiki/File:1317_CFS_Circulation.jpg#/media/File:1317_CFS_Circulation.jpg
“1317 CFS Circulation” by OpenStax College – Anatomy & Physiology, Connexions Web site. http://cnx.org/content/col11496/1.6/, Jun 19, 2013.. Licensed under CC BY 3.0 via Commons – https://commons.wikimedia.org/wiki/File:1317_CFS_Circulation.jpg#/media/File:1317_CFS_Circulation.jpg

 

It i typically the back of the brain that sags in intracranial hypotension, and this leads to distortion of the brainstem. In FBSS however there is in addition, somehow, a reduction in the metabolic activity of the frontal lobe of the brain. It is this frontal hypometabolism that produces the clinical picture that mimics frontotemporal dementia.

"NPH MRI 272 GILD" by © Nevit Dilmen. Licensed under CC BY-SA 3.0 via Commons - https://commons.wikimedia.org/wiki/File:NPH_MRI_272_GILD.gif#/media/File:NPH_MRI_272_GILD.gif
“NPH MRI 272 GILD” by © Nevit Dilmen. Licensed under CC BY-SA 3.0 via Commons – https://commons.wikimedia.org/wiki/File:NPH_MRI_272_GILD.gif#/media/File:NPH_MRI_272_GILD.gif

 

There is an added twist to the story as reported, again in Neurology, of a patient whose syndrome spontaneously resolved when he accidentally fell and hit his chest on a chair. The authors said ‘…the fall may have caused a contusion injury and given him an auto-blood patch‘. In plain English, his injury caused a bleed which clotted and (again somehow), sealed the site of cerebrospinal fluid leakage.

Surely a not-to-miss differential next time you are about to diagnose frontotemporal dementia. A reversible dementia! 

 

6 exciting neuroscience discoveries that will shape neurology

Allan Ajifo on Flikr. https://www.flickr.com/photos/125992663@N02/14601014695
Allan Ajifo on Flikr. https://www.flickr.com/photos/125992663@N02/14601014695

 

The brain is a mystery and that is why neurologists find it fascinating. The more we know, the more it tantalises us with its hidden gems. Great neurologists have waxed lyrical about the ability of the brain to elude all efforts to fully understand it. Santiago Ramon y Cajal for instance says:

“The brain is a world

consisting of a number of unexplored continents

and great stretches of unknown territory” 

Non-neurologists are similarly awed by the brain. Emerson M. Pugh for example says:

“If the human brain were so simple that we could understand it,

we would be so simple that we couldn’t”

Neuroscience and neuroanatomy are at the forefront of exploring this great unknown; the research output from these fields is mind-boggling (pardon the intended pun). But But which recent findings are most likely to change neurological practice in the near future? Here are my top 6.

1. Newly discovered brain lymphatic system

"Gray602" by Henry Vandyke Carter - Henry Gray (1918) Anatomy of the Human Body (See "Book" section below)Bartleby.com: Gray's Anatomy, Plate 602. Licensed under Public Domain via Commons - https://commons.wikimedia.org/wiki/File:Gray602.png#/media/File:Gray602.png
“Gray602” by Henry Vandyke Carter – Henry Gray (1918) Anatomy of the Human Body (See “Book” section below)Bartleby.com: Gray’s Anatomy, Plate 602. Licensed under Public Domain via Commons – https://commons.wikimedia.org/wiki/File:Gray602.png#/media/File:Gray602.png

A recent report that researchers have discovered a previously unknown lymphatic system in the brain is to say the least shocking. To imagine that these lymphatic channels have eluded the sharpest eyes and most focussed microscopes for centuries; goes to show how mysterious the brain indeed is. Why has it stayed undiscovered for so long? Apparently because it is tucked behind a major blood vessel! Hiding in plain sight says one review article. The discovery is so important that one article says it will have the scientists rewriting textbooks. 

The finding however raises hope of better treatments for some neurological diseases. Because the lymphatic system is closely linked to the immune system, multiple sclerosis (MS) is one potential beneficiary of this discovery. Because lymphatics also act as drainage systems, there are implications for conditions such as Alzheimer’s Disease (AD). Hopefully this brain lymphatic system could be manipulated to clear the accumulated abnormal proteins that cause AD and other neurodegenerative diseases.

2. Newly discovered brain networks

"White Matter Connections Obtained with MRI Tractography" by Xavier Gigandet et. al. - Gigandet X, Hagmann P, Kurant M, Cammoun L, Meuli R, et al. (2008) Estimating the Confidence Level of White Matter Connections Obtained with MRI Tractography. PLoS ONE 3(12): e4006. doi:10.1371/journal.pone.0004006. Licensed under CC BY 2.5 via Commons - https://commons.wikimedia.org/wiki/File:White_Matter_Connections_Obtained_with_MRI_Tractography.png#/media/File:White_Matter_Connections_Obtained_with_MRI_Tractography.png
“White Matter Connections Obtained with MRI Tractography” by Xavier Gigandet et. al. – Gigandet X, Hagmann P, Kurant M, Cammoun L, Meuli R, et al. (2008) Estimating the Confidence Level of White Matter Connections Obtained with MRI Tractography. PLoS ONE 3(12): e4006. doi:10.1371/journal.pone.0004006. Licensed under CC BY 2.5 via Commons – https://commons.wikimedia.org/wiki/File:White_Matter_Connections_Obtained_with_MRI_Tractography.png#/media/File:White_Matter_Connections_Obtained_with_MRI_Tractography.png

 

The brains extensive connections is one of its enduring and fascinating mysteries. The winding fibers and tracts, meandering and looping around each other, demonstrate the brains complexity. As soon as we think we have grasped it all along comes a discovery that causes a paradigm shift. This is illustrated by the report of the discovery of a new brain network involved in memory processing. This Parietal Memory Network (PMN), in the brains left hemisphere, responds differentially to novel and to older information. This may have relevance to cognitive disorders such as Alzheimer’s Disease (AD). For the more technical details of the network the paper is in the journal Trends in Cognitive Neuroscience.

3. Newly discovered brain connection

Synapse by Peter Morgan on Flikr. https://www.flickr.com/photos/moogan/5997439279
Synapse by Peter Morgan on Flikr. https://www.flickr.com/photos/moogan/5997439279

 

In a similar vein is the discovery of previously unknown brain fiber tracts called the vertical occipital fasciculus (VOF). This new ‘brain corridor‘ is involved in visual processing. The research paper, published in the Proceedings of the National Academy of Science (PNAS), says the VOF is important in the perception of words and faces amongst other things, and is ‘involved in the control of eye movements, attention, and motion perception. The main benefit of this finding is on our understanding of how the brain learns to read.

4. Newly discovered brain activity in deep coma

By Wojder (Own work(own work by uploader)) [GFDL (http://www.gnu.org/copyleft/fdl.html) or CC BY-SA 4.0-3.0-2.5-2.0-1.0 (http://creativecommons.org/licenses/by-sa/4.0-3.0-2.5-2.0-1.0)], via Wikimedia Commons
By Wojder (Own work(own work by uploader)) [GFDL (http://www.gnu.org/copyleft/fdl.html) or CC BY-SA 4.0-3.0-2.5-2.0-1.0 (http://creativecommons.org/licenses/by-sa/4.0-3.0-2.5-2.0-1.0)%5D, via Wikimedia Commons

The common knowledge is that the electrical activity of the comatose brain flatlines on the electroencephalogram (EEG)! This now appears to be a misconception as this report of previously unknown electrical brain activity in deep coma suggests. One journal reported this  as the discovery of life after brain death!

These electrical waves seen in deep coma are called Nu complexes are well-described in the original paper in PLoS One. This finding will alter our definition of brain death which relies very much on the absence of organised brain electrical activity. Another implication is for patients whose medical condition requires that they are put into a coma; this finding will potentially guide the anaesthetist to the best form of induced coma. 

5. Newly discovered brain cell type 

 

I thought I have learnt all the different types brain cells or neurones that exist right from medical school. The mysterious brain however has a joker at every corner. The report of the discovery of a new type of neurone should come as a surprise, but by now we have learnt not to be shocked by new brain discoveries. The strange thing about these cells, found in the hippocampus of mice brain, is that they have direct connections between their axons (the single long tail) and their dendrites (the smaller hair like projections). This connection by-passes the nerve body; this direct connection enhances the strength of the signals the cell generates. The reason for this peculiarity is not clear but, because the hippocampus is the seat of memory, I guess there are implications for cognitive disorders.

6. Newly discovered brain repair enhancers

We know that the brain repairs itself (neuroplasticity) and that brain fibers make new connections although very slowly. What is new is that these processes can be enhanced or accelerated by external agents. Two interesting substances recently reported are psilocybin and curry. Yes, healing mushrooms and spices!

It appears that Psilocybin (psychedelic mushrooms) can establish stable connections between parts of the brain which do not normally communicate well. The research on this is published under the title ‘Homological Scaffolds of Brain Functional Networks‘. The paper describes how psilocybin helps in nerve re-wiring with the potential implications for the treatment of depression and addiction. A bit paradoxical, using an addictive substance to treat addiction; but hey, this is the brain we are talking about!

"Curcuma longa roots" by Simon A. Eugster - Own work. Licensed under CC BY-SA 3.0 via Commons - https://commons.wikimedia.org/wiki/File:Curcuma_longa_roots.jpg#/media/File:Curcuma_longa_roots.jpg
“Curcuma longa roots” by Simon A. Eugster – Own work. Licensed under CC BY-SA 3.0 via Commons – https://commons.wikimedia.org/wiki/File:Curcuma_longa_roots.jpg#/media/File:Curcuma_longa_roots.jpg

 

Curry on the other hand contains tumeric and this contains tumerone; tumerone has now been shown to help with nerve growth repair and it does this by causing proliferation of brain nerve cells. The research itself is titled ‘Aromatic-tumerone induces neural stem cell proliferation in vitro and in vivo‘. It is a study in rats, but are human brain very different? Potential benefits are all the neurodegenerative diseases which neurologists have singularly failed to reverse.

Enough food for thought but if you want to keep up with neuroscience findings, here are the most popular neuroscience blogs.

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10 remarkable breakthroughs that will change neurology

This is the age of rapidly advancing technology. Blink, and the scene changes unrecognisably. It would be unbelievable if we weren’t actually living it. What technological advances will impact Neurology in the near future? Here are my top 10 neurology-impacting technologies.

1. Nanotechnology to deliver clot-busting drugs

CSIRO [CC BY 3.0 (http://creativecommons.org/licenses/by/3.0)], via Wikimedia Commons
CSIRO [CC BY 3.0 (http://creativecommons.org/licenses/by/3.0)%5D, via Wikimedia Commons

Clot-busting or thrombolysis is life saving treatment following stroke. This however requires getting to hospital within 4.5 hours of the event, and is given by intravenous injections. How much better if it would be if thrombolysis could be delivered by mouth, and at the point of contact with paramedics. Indeed this is the idea behind clot-busting nanocapsules. Nanoparticles may also have future applications in prevention of MS relapses.

2. Disease-monitoring wearables

What if people with epilepsy could predict their next seizure? Or if someone with multiple sclerosis (MS) could predict an impending relapse? Well,  wearable technology promises to do just that. This goes beyond the fitbit which measures basic biological processes; these technologies will monitor realtime data such as a watch that measures skin moisture for seizure-prediction, or an iPad strapped to the back to monitor walking speed of patients with MS. I predict this technology will rapidly spread to many other chronic neurological diseases.

3. Nanoscale-resolution brain imaging

From the humble X-ray to the CT scan, brain imaging has progressed in leaps and bounds to a proliferation of MRI modalities with ever-increasing resolution or power. But nanoscale resolution imaging promises to make things more SciFi than healthcare. With the ability to look at ‘every nook and cranny‘ of the brain, this technology will visualise brain connections with incredible detail. Imagine how this will enhance diagnostic accuracy (and diagnostic conundrums in equal measure). This work is still in mice butI’m sure human application will follow shortly.

4. High-resolution eye selfies

Mobile phones are ubiquitous and the camera function seems to be more valuable than the talk mode. What with the number of selfies proliferating like a rah over social media. This may however be of advantage to healthcare. As the camera resolution increases exponentially, eye-selfies may come to the aid of neurologists and  ophthalmologists who treat patients with a condition called idiopathic intracranial hypertension (IIH). In this condition the pressure of the fluid around the brain is elevated. This shows as a blurring of the margins of an area called the disc and this is seen in the back of the eye using an ophthalmoscope. With advanced mobile phone cameras patients with IIH could make an eye-selfie diagnosis or assist in monitoring their eyes themselves.

5. Wireless brain EEG monitoring

Thinker Thing. https://www.flickr.com/photos/thinkerthing/8075309856
Attribution: Thinker Thing. https://www.flickr.com/photos/thinkerthing/8075309856

 

The electroencephalogram (EEG) is an invaluable tool for making the diagnosis of epilepsy. The process requires a time-consuming application of several electrodes to specific points on the scalp. The electrodes are then connected by wires or leads to a machine which records the brains electrical activity. This cumbersome process is time consuming especially for patients that need to keep the wires on for days. To the rescue is the wireless brain helmetThis will not only make the recording easier, it will send the recording wirelessly to the physiologist who will interpret the test. More interestingly, it will allow receive signals sent by the physiologist which will be targeted to treat epilepsy or other conditions like depression. The NeuroPace’s RNS system is one such device leading the way.

6.Wireless drug delivery

This is another wireless technology which facilitates the direct delivery of drugs into the brainThe device, not thicker than a human hair, is implanted into the brain and wirelessly controlled to deliver the required dose of drug, at specified times. The likely beneficiary diseases are epilepsy and depression (again). It is still in the stage of trials in mice but coming to your neighbourhood hospital very soon. If you want the complicated details then see the journal Cell for the research paper titled Wireless Optofluidic Systems for Programmable In-vivo Pharmacology and Optogenetics. What a mouthful!

7. Suicide-prediction technology

By RyanJWilmot (Own work) [CC BY-SA 4.0 (http://creativecommons.org/licenses/by-sa/4.0)], via Wikimedia Commons
By RyanJWilmot (Own work) [CC BY-SA 4.0 (http://creativecommons.org/licenses/by-sa/4.0)%5D, via Wikimedia Commons

A blood test to warn of the risk of impending suicide? Wouldn’t that be great? It is not a far-fetched dream if reports that a blood test for RNA biomarkers of suicidal thoughts fulfils its potential. This will have psychiatrists whooping for joy-or out of a job!

 8. Optogenetics

Optogenetics is the use of light to control cells. This has the potential to alter nervous system function with exciting prospects for disease treatment. Again epilepsy appears to be a prime beneficiary if this takes off. Imagine programming a brain cell or neurone to glow red when calcium flows into it. This glow then dampens the activity of neighbouring cells thereby inhibiting any rouge electrical impulse that may result in an epileptic seizure. The process requires the injection of a genetically engineered virus which infects the brain cells. This ability to modify brain cell behaviour also has implications for the treatment of Parkinson’s disease (PD) and depression among other things. More SciFi you say.

9. Gene therapy for muscular dystrophy

Genetic therapy is an old dog that is still barking. This is just as well because it remains the only hope for many genetic conditions.  Genetic therapy has had its ups and downs and a very recent high is the positive outcome in leukaemia. Neurology is however not too far behind if this report that muscular dystrophy gene therapy has been successful in dogs is translated to humans. The research is rather complex but the academically minded may be interested in details of the trial.

10. Molecular spies for early cancer detection

A molecular spy is an antibody probe that is directed at the brain to detect and destroy ‘rogue’ cells. The leading researcher for this is Sam Gembhir who is based at the Canary Center at Stanford for Cancer Early Detection. Best to hear it from the horse’s mouth- speaking here at a TED talk.

https://www.youtube.com/embed/yG1J5e6-uT4” target=”_blank”>

Follow the links below for more on this topic:

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Autism and creativity

I find creativity an exciting topic; don’t we all wish we were that bit more insightful! I have already posted on creativity and mental health, and I have reviewed may books that explore innovation in my other blog, The Doctor’s Bookshelf. But I offer no apology for my obsession with the subject- what can better genius after all?

"Albert Einstein (Nobel)" by Unknown - Official 1921 Nobel Prize in Physics photograph. Licensed under Public Domain via Commons.
Albert Einstein (Nobel)” by UnknownOfficial 1921 Nobel Prize in Physics photograph. Licensed under Public Domain via Commons.

This post was triggered by an article linking autism to creativity published in the Journal of Autism and Developmental Health (yes, there is a journal such as this). The paper is titled The relationship between subthreshold autistic traits, ambiguous figure perception and divergent thinking. The gist of the paper is that people with autistic traits demonstrate divergent thinking, a cognitive process that leads to creative ideas. This theme is explored further in this blog post titled A Link Between Autism and Creativity. Another article from Frontiers of Human Neuroscience  suggests a link between autism and high verbal creativity.

Is the research borne out by real life experience? Perhaps. Wikipedia has a fairly long list of creative people with autism. A classic example is Stephen Wiltshire, the architectural artist whose visual recall lets him recreate extensive scenes- all from memory of brief observations.

"Stephen Wiltshire holding MBE" by Original uploader was Stwilts at en.wikipedia - Transferred from en.wikipedia. Licensed under Public Domain via Commons.
Stephen Wiltshire holding MBE” by Original uploader was Stwilts at en.wikipedia – Transferred from en.wikipedia. Licensed under Public Domain via Commons.

Stephen Wiltshire’s creative work is worth exploring and below is an example of his art.

"Big Ben on a rainy evening in London by Stephen Wiltshire MBE" by Stwilts at English Wikipedia. Licensed under CC BY-SA 3.0 via Wikimedia Commons.
Big Ben on a rainy evening in London by Stephen Wiltshire MBE” by Stwilts at English Wikipedia. Licensed under CC BY-SA 3.0 via Wikimedia Commons.

The Wikipedia list is however dominated by artists and athletes. What of  scientific creativity? Indeed there are several examples of creative scientists with autism. Some of the big names here Isaac Newton, Nikola Tesla and Albert Einstein who all demonstrate autistic traits.

"Sir Isaac Newton 1702" by Sir Godfrey Kneller - http://www.nd.edu/~dharley/HistIdeas/Newton.html (not actual)first uploaded in German Wikipedia by Dr. Manuel. Licensed under Public Domain via Wikimedia Commons.
Sir Isaac Newton 1702” by Sir Godfrey Knellerhttp://www.nd.edu/~dharley/HistIdeas/Newton.html (not actual)first uploaded in German Wikipedia by Dr. Manuel. Licensed under Public Domain via Wikimedia Commons.

Other speculative diagnoses of autism are related in this article in The Telegraph which says ‘Beethoven, Mozart, Hans Christian Andersen and Immanuel Kant have also received post mortem diagnoses of Asperger’s‘. Kant’s case is supported by his recognised obsession with routines. This theme is explored further in an article in New Scientist titled Scientists and autism: when geeks meet. Interesting!

Prof. Simon Baron-Cohen is a scientist at the forefront of studying autism and is the director of the Cambridge Autism Research Unit. His research suggests a close correlation between autism and scientific interest. He goes as far as to say that scientists are highly likely to have children with autism. Here is Baron-Cohen speaking a bit more on autism and scientific creativity.

https://www.youtube.com/embed/eEYy1GXaNNY” target=”_blank”>

This all shows how complex the brain really is and, more significantly, how important each of us is- no matter the make up of our brains.

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IgLON5: a new antibody disorder for neurologists

IgLON5 antibody syndrome first came to my attention in a paper from Lancet Neurology titled A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5. A passing phenomenon I thought, but added it to neurochecklists anyway.

Antibody by Gentaur (Gentaur) [Public domain], via Wikimedia Commons
Antibody by Gentaur (Gentaur) [Public domain], via Wikimedia Commons

I then came across another paper in Neurology 2015 expanding the phenotype titled Sleep disorder, chorea, and dementia associated with IgLON5 antibodies. And another paper from Journal of Immunology practically established this as a real, and not a phantom, phenomenon. The paper is titled Chorea and parkinsonism associated with autoantibodies to IgLON5 and responsive to immunotherapy.

polar-bear-614721_1280

So what is IgLON5? Well its a neuronal cell adhesion protein. Naturally. The key features of the syndrome are:

  • Parasomnia
  • Sleep-related breathing problems
  • Rapid eye movement (REM) sleep behaviour disorder
  • Chorea
  • Dementia
  • Parkinsonism

We are surely going to hear more of this antibody syndrome. Watch this space!

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Maggots, viruses and lasers: some innovations for brain tumours

Brain tumours are among the most distressing of cancers, partly because of they arise from the most important body organ. Current treatment revolves around debulking surgery and palliative chemotherapy and radiotherapy. There are developments every day to improve the outcome of this awful cancer, beyond the Below are 5 things that may, or may not, lead to better brain tumour care

1. MAGGOT-LIKE ROBOTS

"Hermetiaillucens" by MD-Terraristik – Laut [1] ist Dennis Kress Mitinhaber des Unternehmens - www.MD-Terraristik.de. Licensed under Public Domain via Commons.
Hermetiaillucens” by MD-Terraristik – Laut [1] ist Dennis Kress Mitinhaber des Unternehmens – http://www.MD-Terraristik.de. Licensed under Public Domain via Commons.

I came across this interesting development in news headlines titled Maggot-Like Robot Eats Brain Tumors and Robot Maggots Feed On Brain Tumors. Unlike many sensational headlines, there appears to be some truth behind these ones. The National Institute of Biomedical Imaging and Bioengineering for example  suggests that, in future, robots may be used to target hard-to-reach brain tumours. The leading neurosurgeon in this endeavour is J Marc Simard of the University of Maryland. Maggot Bots indeed!

2. POLIOVIRUS

By Fixi at the German language Wikipedia, CC BY-SA 3.0, Link
By Fixi at the German language Wikipedia, CC BY-SA 3.0, Link

The dreaded poliovirus, after all the years of trying to eradicate it, seems to have some benefit after all. The virus may come in handy in the fight against the worst type of brain tumour, glioblastoma multiforme. Matthias Gromeier is leading the research in this field. It however has a long way to go, and this analysis in Forbes puts the progress in perspective.

3. GENETIC PROFILING OF TUMOURS

"DNA methylation" by Christoph Bock (Max Planck Institute for Informatics) - Own work. Licensed under CC BY-SA 3.0 via Commons.
DNA methylation” by Christoph Bock (Max Planck Institute for Informatics)Own work. Licensed under CC BY-SA 3.0 via Commons.

The holy grail in tumour therapy is to target the treatment at the genetic level. This innovative approach to map the genetic picture of tumours is rather too technical for this blog, but you may explore the topic if you feel bold enough, by reading this article from the New England Journal of Medicine titled Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. Or perhaps the gentler read from Biotech in Asia titled Tailor-made treatment for brain tumor through genetic profiling.

4. LASER TUMOUR IDENTIFICATION

1.2W Class 4 Very High Power Blue Laser, Dark Background. Andrew "FastLizard4" Adams on Flikr. https://www.flickr.com/photos/fastlizard4/5660747232
1.2W Class 4 Very High Power Blue Laser, Dark Background. Andrew “FastLizard4” Adams on Flikr. https://www.flickr.com/photos/fastlizard4/5660747232

As you may imagine, it is a challenge for the neurosurgeon to tell cancer cells apart from normal tumour cells during surgery. This therefore often leads to incomplete removal of the cancerous cells. The development of a laser probe that could help distinguish normal from abnormal cells is therefore welcome. The laser distinguishes normal from abnormal cells by the way they reflect light back to it. You may learn more about this in the BBC titled Laser detects brain tumour cells during surgery.

5. THE INTELLIGENT KNIFE (iKNIFE)

https://www.youtube.com/embed/MGNjtfizYTI” target=”_blank”>

The BBC link above is actually better than ‘good enough’ because it also makes reference to another innovation, the iknife or intelligent knife. This is ‘an electro-surgical scalpel that produces smoke as it cuts through tissue‘. The tissue is then quickly analysed to tell what type of tumour the surgeon is facing. The video clip above says it all.

6. HYPERTHERMIA

Red Hot Coals Texture 2. Heath Alseike on Flikr. https://www.flickr.com/photos/99624358@N00/21314199361
Red Hot Coals Texture 2. Heath Alseike on Flikr. https://www.flickr.com/photos/99624358@N00/21314199361

Finally, this technique uses high temperatures to treat brain tumours. It is described as an ‘MRI-guided high-intensity laser probe that “cooks” cancer cells deep within the brain’. That says it all!

B0010383 Highly invasive human paediatric brain tumour derived cells. Wellcome Images on Flikr. https://www.flickr.com/photos/wellcomeimages/25821182694
B0010383 Highly invasive human paediatric brain tumour derived cells. Wellcome Images on Flikr. https://www.flickr.com/photos/wellcomeimages/25821182694

There is hope yet in the fight against one of natures worst cancers.

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