Neurologists are often at the receiving end of the jokes of other medical specialists. They facetiously remark that neurologists know a lot, but do very little to cure their patients. Admittedly we do our fair share of dispensing weak platitudes, and we do break bad news with embarrassing regularity. There is no doubt that, for many diseases, all we have in stock are symptomatic or palliative. This is sadly the case with many familiar disorders such as Alzheimer’s disease (AD), Huntington’s disease (HD), Charcot Marie Tooth disease (CMT), Friedreich’s ataxia (FA), essential tremor (ET), and myotonic dystrophy.
It is even true that at the extreme end of neurological practice, there are conditions that literally turn a deaf ear to all our entreaties, brush off everything we hurl at them, taunt us with reckless abandon, and run relentlessly mortal courses. Such is the dismal state of affairs with diseases such as rabies encephalitis, Creutzfeldt Jakob disease (CJD), and motor neurone disease (MND) which have been covered in a previous blog post – 13 exceptionally dreadful neurological disorders.
But neurologists don’t just tap their patients knees, and then raise their hands up in despair. We do more than just lend our patients a listening ear, or a shoulder to cry on. We do have at our disposal a vast armamentarium that can control many neurological diseases, even if we need to use these chronically. Such is the state of play with diseases such as migraine, epilepsy, multiple sclerosis (MS), narcolepsy, myasthenia gravis (MG), restless legs syndrome (RLS), Wilson’s disease, and Parkinson’s disease (PD).
But beyond treatment, what patients really want is total cure. And neurologists can lay claim to this as well. Some diseases of the nervous system can indeed be permanently remedied. It is however important to note that curable neurological disorders are also potentially serious, and do carry the risk for serious complications, and even death, if not treated early and adequately. With that proviso, here are our top 7 potentially curable neurological disorders.
Whilst brain tumours often signal fatal outcomes, most, but not all, meningiomas are benign. Their favourable disposition is further enhanced by the fact that they are not, strictly speaking, brain tumours because they arise from the meninges, the covering of the brain. They have several risk factors including neurofibromatosis, and they have several favoured sites such as the convexity of the brain and the olfactory groove. An MRI brain scan is often a dead giveaway because meningiomas frequently demonstrate a dural tail. Treatment of meningiomas is often by complete surgical removal, but occasionally radiotherapy, and en emerging host of tyrosine kinase inhibitors and monoclonal antibodies, can be marshalled against them.
Normal pressure hydrocephalus (NPH)
NPH is the outcome of excessive cerebrospinal fluid in the ventricles of the brain. The ‘how’ and ‘why’ of NPH have not been all worked out yet, and there is a long list of acquired and genetic risk factors. Making the diagnosis of NPH is not always easy because the subject may not demonstrate all three cardinal signs of NPH – memory problems, gait impairment, and urinary difficulties. The diagnosis is also complicated by the existence of many NPH mimics such as multi-infarct dementia and progressive supranuclear palsy (PSP). The MRI features of NPH, of which there are lesion, are also bones of contention as they may be seen in many older people. CSF drainage test and CSF infusion test may however predict those who will respond to treatment with a CSF diversion surgery that is called ventriculoperitoneal (VP) shunting. NPH is therefore a real conundrum which is however potentially reversible.
Idiopathic intracranial hypertension (IIH)
IIH tends to favour young women with a high body mass index (BMI), and it is the result of excessive pressure build up of the cerebrospinal fluid (CSF). The typical presentation is with headache, pulsatile tinnitus, and visual obscurations – fleeting episodes of visual impairment. The clue to the diagnosis is the finding of swelling behind the eye called papilloedema. IIH however has many unusual manifestations and variants including IIH in men, and IIH without paiplloedema. The diagnosis is made at lumbar puncture where the opening pressure of the CSF is higher than normal. Left uncontrolled, the high pressure can compromise visual function resulting in tunnel vision, from loss of peripheral vision, and total blindness. This disaster can however be avoided by one of several interventions for IIH. Medical measures include weight loss, diuretics, and the emerging glucagon-like peptide 1 receptor agonists, whilst surgical treatments are CSF shunting, venous sinus stenting, and optic nerve sheath fenestration. A hazardous condition…but eminently treatable.
Bacterial meningitis is a potentially fatal disease which manifests with neck stiffness, headache, visual impairment, seizures and impaired consciousness. It is the result of invasion of the meninges of the brain by any variety of bacteria, but most often Streptococcus pneumoniae. Meningitis caused by Neisseria meningitidis is more frequently referred to as meningococcal meningitis, and it may manifest with a tell-tale skin rash. As deadly as meningitis is, it is reassuring that early treatment with antibiotics can effect a complete cure. Delayed treatment however may leave the victim with long-term consequences such as deafness, cerebral vein thrombosis (CVT), hydrocephalus, subdural empyema (pus collection), and stroke. A lot is therefore at stake.
This potentially devastating disease sets in when a variety of viruses, but typically herpes simplex virus type 1 (HSV1), invades the brain. HSV1 encephalitis favours the temporal lobes and it is usually suspected in people who manifest altered behaviour, headaches, and seizures. It is diagnosed with a brain MRI scan, and with cerebrospinal fluid analysis checking for the presence of the virus using polymerase chain reaction (PCR). Failure to treat it early can be devastating with long-term complications such as amnesia and epilepsy. All these catastrophes can be prevented with effective treatment using the antiviral agent aciclovir, and occasionally steroids.
This horrendous disorder can be calamitous and result in life-long suffering. Early detection is key to preventing the harm of autoimmune encephalitis, but it doesn’t help that it manifests just like other forms of encephalitis. It is also challenging that the causative antibodies of autoimmune encephalitis are legion – from the more familiar NMDA, Caspr2, LGI1, and AMPAR, to the rarer DPPX, GFAP, GABA-B, and MGluR5. There is also a host of much rarer antibodies, and it may present as seronegative autoimmune limbic encephalitis (SNALE). However, once the diagnostic hurdle has been overcome, there are several effective immune modulating drugs which can confer remarkable recovery although in some cases long-term treatment is required.
This encephalopathy that results from thiamine deficiency is often, but not always, the result of excessive alchohol intake: indeed, the risk factors include several medical, surgical, and psychiatric disorders. Its calling-card symptoms are confusion, confabulation, and amnesia, and its give away signs are nystagmus and ophthalmoparesis – impaired eye movements. It also has tell-tale lesions on brain MRI which favour particular sites such as the mammillary body and the medial thalamus. Treatment with thiamine often results in dramatic recovery, but when untreated, some cases will progress to the dreadful and irreversible Korsakoff syndrome.
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