The 52 variants of CMT… and their practical checklists

Jean-Marie Charcot, Pierre Marie, and Howard Henry Tooth will be confounded to see what has become of the disease they described hundreds of years ago. Charcot-Marie Tooth disease (CMT) was a simple and straightforward disease then, with easily recognisable features such as the ‘classic’ high arched foot (pes cavus), the hammer toes, and the inverted champagne glass appearance of […]

via The 52 variants of CMT… and their practical checklists — Neurochecklists Updates

Primary angiitis of the CNS: unusual presentations of a rare and dangerous disorder

Primary angiitis of the central nervous system (PACNS) is inflammation of the blood vessels of the central nervous system (stating the obvious you might say). It differs from other forms of angiitis or vasculitis, such as lupus and giant cell arteritis (GCA), which respect no boundaries. PACNS is as dangerous a neurological disorder as they come, and just as rare. It requires aggressive, and paradoxically equally life-threatening, immunosuppressive treatment. Between the devil and deep blue sea-that’s exactly where the neurologist managing a patient with PACNS will be found.

BRAINADE! the Brain Grenade. Emilio Garcia on Flikr.
BRAINADE! the Brain Grenade. Emilio Garcia on Flikr.

The clinical features of PACNS are unfortunately very non-specific and include headaches, seizures, stroke, and cognitive changes. This makes PACNS is a challenge to diagnose. Even when suspected, PACNS may evade detection even by the special scan of the blood vessels called angiography. More frequently, the only certain way of confirming this disease in life is with a brain biopsy. Did I say ‘certain’? I take that back. Alas, even brain biopsy is not guaranteed to make the diagnosis of PACNS. A high degree of confidence and teeth-gritting is therefore an absolute requirement in any neurologist unfortunate enough to come face-to-face with this menace.

By The original uploader was Glitzy queen00 at English Wikipedia - Transferred from en.wikipedia to Commons., CC BY-SA 3.0, Link
By The original uploader was Glitzy queen00 at English Wikipedia – Transferred from en.wikipedia to Commons., CC BY-SA 3.0, Link

To make complicated matters even worse for the unwary neurologist, there are now reports suggesting that PACNS presents in even rarer and atypical ways. For the neurological Sherlocks and Poirots, here are 2 unusual presentations of PACNS.

Isolated spinal cord involvement

Spinal Cord 2. Green Flames 09 on Flikr.
Spinal Cord 2. Green Flames 09 on Flikr.

This is a case report from the Journal of Neurology of a 44-year old woman who presented with PACNS but with purely spinal cord involvement and completely sparing the brain. The diagnosis in this case was only confirmed with a spinal cord biopsy. The authors reviewed the literature and only found 8 previous reports of PACNS beginning in the spinal cord, and half of these progressed to involve the brain. 

Unilateral cerebral presentation

Keep Left. Howard Lake on Flikr.
Keep Left. Howard Lake on Flikr.

Most cases of PACNS evenly involve both sides of the brain. This report, again from Journal of Neurology, bucks this trend with the report of a 55-year old man who had PACNS which only involved the left side of his brain. This unilateral hemispheric PACNS is a reminder that an entity called focal PACNS exists.

Do you have any sightings of unusual cases of PACNS? Please drop a comment



45 neurological disorders with unusual eponyms in neurochecklists

Neurology is full of syndromes named after their discoverers. These diseases are defined by their eponyms. Many of these eponymous disorders are very common and well-recognised. These include Parkinson’s disease (PD), Alzheimer’s disease (AD), and Huntington’s disease (HD). Many other diseases, also named after people who worked on them, are not household names. Indeed many neurologists are […]

via 45 neurological disorders with unusual eponyms in neurochecklists — Neurochecklists Updates

The art of spinning catchy neurology headlines

The Neurology Lounge is always on the lookout for catchy neurology article titles to adorn its shelves. My previous blog post in this quest was The art of spinning catchy titles.

Since then, there have been quite a few brilliant article titles that have caught my fancy. We must acknowledge the wordsmiths who craftily and meticulously think up these magical headlines; they put in a lot of thought to conjure up the right words to use. The look into their crystal balls to predict the best way to play around with the meanings. With a bit of lexical alchemy, they miraculously come up with the titles that make us do a double-take, but do so with a smile. Below are 9 such catchy titles.

Parkinson’s disease: Oh my gut! 

By The original uploader was Arnavaz at French WikipediaThis image is an old version created by Medium69.Cette image est une ancienne version créée par Medium69.Please credit this : William Crochot –, Public Domain, Link

This title reflects the science suggesting that Parkinson’s disease originates from the gut. This editorial restates the proposition that α-synuclein starts accumulating in the intestines before migrating, up the vagus nerve, ‘in a prion-like fashion’, to the brain.

Patent foramen ovale and migraine: closing the debate

Medical Illustrations by Patrick Lynch, generated for multimedia teaching projects by the Yale University School of Medicine, Center for Advanced Instructional Media, 1987-2000.

Patent foramen ovale (PFO) is a hole in the heart which connects the upper two heart chambers, or atria. It normally closes after birth, but in some people it persists to cause some grief to cardiologists and neurologists. Whether a PFO causes migraine or not is a long standing contentious issue in Neurology. The authors of this study found no link between migraine and (PFO). The title is brilliant, but the tone of finality is probably premature; I guess this debate is far from over.

Migraine and inhibitory system – I can’t hold it!

Human brain on white background. _DJ_ on Flikr.

And still on migraine is this headline grabber. A bit on the basic science spectrum, I quote from the abstract to give you a flavour: ‘This review focuses on recent structural and functional neuroimaging studies that investigated the role of subcortical and cortical structures in modulating nociceptive input in migraine, which outlined the presence of an imbalance between inhibitory and excitatory modulation of pain processing in the disease‘. I would rather stick with the punchy headline myself.

On the nose: olfactory disturbances in patients with transient epileptic amnesia

Big Nose Strikes Again. Bazusa on Flikr.

This research paper establishes a link between transient epileptic amnesia (TEA) and impairment of the sense of smell. TEA continues to surprise, and there is indeed quite a lot to chew in the paper.

Myelitis in neuromyelitis optica spectrum disorder: the long and the short of it

By JasonRobertYoungMDOwn work, CC BY-SA 4.0, Link

This is a clear play on the defining feature of neuromyelitis optica (NMO), a long segment of inflammation in the spinal cord. This is what neurologists call longitudinally extensive transverse myelitis (LETM). This is an excellent editorial, worthy of the headline. It emphasises the point that NMO really has no defining features, not even the presence of the ‘defining’ antibody, anti-aquaporin 4- just ask anti-MOG NMO about this

AEDs after ICH: preventing the prophylaxis

By BobjgalindoOwn work, GFDL, Link

How do you prevent a harmful preventative practice?. By a paper with a title that is pure genius of course. The authors of this paper highlight the persisting, anti-guideline, practice of using prophylactic antiepileptic drugs (AEDs) in people who have had intracerebral haemorrhage (ICH). The paper rhetorically asks if this has ‘become a habit too difficult to break?’ Not going by this catchy headline!

Paralysis lost: a new cause for a common parasomnia?

Sleepwalking. Gareth on Flikr.

Parasomnias are diseases that occur during or related to sleep. This headline is for an editorial on a new parasomnia called anti IgLON5 antibody disorder. This is the subject of my previous blog post titled IgLON5: a new antibody disorder for neurologists. The headline writer here is clearly a fan of John Milton. I however struggled to make the connection between the excellent headline and the subject of the paper. I however presume it relates to the ‘loss of sleep paralysis‘ that accompanies many sleep disorders, including the quintessential parasomnia- REM sleep behaviour disorder (RBD). Excellent title anyway.

Hereditary spastic paraplegia: the pace quickens

By Rawlings, Leo – is photograph Art.IWM ART LD 6040 from the collections of the Imperial War Museums., Public Domain, Link

With a slightly wicked wit, this headline focuses on the slow walking speed of people with hereditary spastic paraplegia (HSP), contrasting this with the increasing research output on the disease. A bit dated I admit, but the paper refers to work which identified the genetic basis of SPG3, one of the commoner HSPs. A lesson in headline writing from the archives you may say.

Cut your losses: spastin mediates branch-specific axon loss

Synapse. Ben Cadet on Flikr.

The headline is brilliant, but the content goes way over my head. It is an editorial on a basic science paper. For the curious and the nerdy, I quote an extract: ‘during synapse elimination in the developing neuromuscular junction, branch-specific microtubule destabilization results in arrested axonal transport and induces axon branch loss. This process is mediated in part by the neurodegeneration-associated, microtubule-severing protein spastin‘. Enough I hear you say. OK, just stick with the headline.


Do you have any catchy titles-please drop a comment.


20 striking examples of the curious and the unusual in neurology

Neurology is an extraordinary specialty. This is because it deals with the most complex organ, the brain. Neurologists therefore come up against very odd symptoms, and diagnose the most unusual syndromes. Below are 20 curious neurochecklists which reflect this peculiar feature of neurology. AEROPLANE HEADACHE BATHING HEADACHE BURNING MOUTH SYNDROME CRYING EPILEPSY EXPLODING HEAD SYNDROME FUGUE IMPAIRED FACIAL RECOGNITION OF EMOTIONS MIRROR […]

via 20 striking examples of the curious and the unusual in neurology — Neurochecklists Updates

Migraine and the challenge of white matter lesions in the brain

Neurologists often refer their patients with headache for a brain MRI scan. Quite often the reason for this is to reassure their patients who are worried about a sinister cause for their headache…and the anxiety provoking culprit is usually a brain tumour. The headache is often a migraine which has recently changed in character, or which is defying conventional treatment.

The neurologist is often ambivalent when requesting such scans. On the one hand, she expects the scan to be normal. On the other hand, she can not be certain there is indeed no sinister cause for the headaches. Another thing also bothers the neurologist, beyond the chance of detecting a brain tumour. And this is the ‘risk’ that the brain scan detects ‘incidental’ findings called white matter lesions (WML). Alas, these reassurograms frequently pick up these less sinister, but nevertheless unexplained, findings.

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, CC BY 2.5, Link
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, CC BY 2.5, Link

White matter lesions are often just age-related, ‘wear and tear’ changes, and they are more common in people with vascular risk factors such as hypertension, smoking and raised cholesterol levels. Neurologists generally believe migraine is also a risk factor for white matter lesions. And there are several studies to support this belief.

An example is a paper by the headache gurus Marcelo Bigal and Richard Lipton, published in the journal Cephalalgia, titled migraine as a risk factor for deep brain lesions and cardiovascular disease. Another is a paper by Kruit and colleagues in the Journal of the American Medical Association (JAMA) titled migraine as a risk factor for subclinical brain lesions. If you are still not convinced, try this article in the Archives of Neurology by Swartz and colleagues, with the unequivocal title-migraine is associated with magnetic resonance imaging white matter abnormalities.

MIGRAINE. aka TMan on Flikr.
MIGRAINE. aka TMan on Flikr.

With this strong evidence, neurologists are able to convince themselves there is nothing to these MRI high signal changes in their patients with migraine. No ‘chicken and egg’ philosophical equivocation is entertained. The scans are sometimes discussed at neuroradiology meetings where everybody murmurs ‘migraine white matter lesions’. All doubt dispelled, the neurologist reassures the patient, and hurriedly closes the chapter.

It is therefore with a strong jolt that neurologists read a recent article in the prestigious journal, Brain, greatly upsetting this cosy neurological consensus. In the paper titled migraine with aura and risk of silent brain infarcts and white matter hyperintensities, the authors found no association between migraine and brain white matter lesions. Shocking!

Shocked girl. Bixendro on Flikr.
Shocked girl. Bixendro on Flikr.

The authors studied female twin pairs aged between 30–60 years. The twins were  identified through the population-based Danish Twin Registry. The authors compared the MRI scans of the subjects with and without migraine, and found no difference in the frequency of white matter changes between the two groups. They proudly, and disconcertingly, declare that ‘we found no evidence of an association between silent brain infarcts, white matter hyperintensities, and migraine with aura‘.

Migraine with aura. Joana Roja on Flikr.
Migraine with aura. Joana Roja on Flikr.

Oh dear-what do neurologists tell their patients now? I shudder to think!



The remarkable disorders of the 12 cranial nerves…and their checklists

Nothing depicts the strange mix of beauty and complexity of the brain as the 12 pairs of cranial nerves. These nerves take off from the three sections of the brainstem and have intriguing names such as the olfactory, the trigeminal, the vestibulochochlear, and the hypoglossal. These magnificent twelve turn and twist, loop and meander, as they find their way to their varied […]

via The remarkable disorders of the 12 cranial nerves…and their checklists — Neurochecklists Updates