Dec
04

Stroke, Migraine and Genes- CADASIL

 Most of patients know that ischemic stroke can be caused be high blood pressure, abnormal blood sugar level, obesity, PFO, atrial fibrillation and many other factors that can be treated succesfully. But there are also hereditary conditions causing stroke especially among young individuals(30-70years). The most common is CADASIL(Cerebral Autosomal Dominant Arteriopathy with Subcortal Infarcts and Leucoencephalopathy). This disorder is caused by mutations of the Notch 3 gene(this gene is located in the same region as gene responsible for familial hemiplegic migraine) on chromosome 19, resulting in progressive degeneration of smooth muscle cells in blood vessels. Damaged vessels are more likely to obstruct blood flow leading to stroke.

Symptoms

CADASIL often starts with migraine with aura, mood disorders and subcortal TIAs or strokes. After multiple cerebrovascular incidents subcortal dementia may appear.

How to help?

There is no treatment for this genetic disorder. We can only slow down the progression of the disease and help prevent strokes with supportive care. Daily aspirin reduce incidence of TIAs and strokes. We can also treat migraine headaches and mood disorders with drug therapy.

Watch the CADASIL video:

Nov
28

A Hole in the heart causing Migraines and Stroke. Story of Ceri

My name is Ceri James and I celebrated my 37th birthday on the 3rd September 2005. I was married to Phil and we have 2 children, Josh and Ellie .I used to have two jobs, one was helping in the local primary school canteen, and the other was in the local hospital in the evenings as a records clerk.

It was Monday 7th March 2005 and we both had a rare day off work. Phil and I went shopping and I managed to get him to buy me some clothes. We had had a lovely afternoon. We picked the children up from school, we all had tea, put the children to bed, it was a normal day. But not for much longer.

It was time for Phil and I to go to bed about then about 23:40 I had a pain in my neck then my head, I knew I was having a stroke and I knew my speech was going as I asked Phil to phone for an ambulance. I cannot remember anything from this point although I didn’t lose consciousness.

I was taken to the Princess of Wales hospital in Bridgend, where I stayed for a week. During this time, Phil, my mum and my sister didn’t know what was going to happen next. Six days after being admitted, a Professor from Morriston Hospital in Swansea, came and assessed me, he then arranged for me to be transferred to the Neurology Ward down in Swansea.

The following day I was transferred via ambulance to Morriston and I that is the first thing I can remember since I had the stroke 7 days previous. I lost feeling on the right side but it transferred to the left side within the first 36 hours I had lost my speech completely, and was fed via a drip. My weight dropped from 7 stone 13 to 6 stone 8. I remember having lots of tests and lots of blood done. I had 2 lumber punctures in my back as they were trying to detect why I had suffered a stroke. As time went by I was taken off the drip. Yet I could only eat mashed food (like baby food) and drink thickened juice as that is all I could tolerate. I had to learn how to swallow again.

While on this ward I had terrible dreams, the doctors said it was the muscle relaxant that I was taking, so they stopped it, and the dreams went away. During my time on the Gower Neurology Ward, the cardiologist wanted to perform an endoscopy (magic eye) but I was unable to open my mouth wide enough for the probe.

After 8 weeks on this ward I was transferred to the Clydach rehabilitation ward, I was thrilled because I knew the next move would be home. I was put on warfarin tablets and had regular blood tests to check my levels. After a few weeks I went for the endoscopy and has soon has the probe entered my chest area the doctor could see the “hole in the heart”, the doctor actually said it was more like a tunnel. Apparently this had been there since birth. The cardiologist said that this “hole in the heart” would explain why I suffered with migraines for most of my life.

I wasn’t feeling very well last Christmas, I went to see my local GP complaining of numbness in my arm, he said not to worry and that it is more likely stress and that I was too young to have a stroke. I stayed on the Rehabilitation ward for 11 weeks. So I got to know all the patients and nurses by their first names.

The hospital was about 30 minutes drive from my house and my husband and mum visited every day. I progressed to eating normal food and normal drinks. They couldn’t stop me eating and drinking. One Saturday was especially good, it consisted of breakfast, mid morning chocolate bar, dinner, box of chocolate fingers in afternoon, another meal at 17:00, chocolate milkshake and yet another bar of chocolate at visiting time that evening. Then funnily enough I was sick in the middle of the night, all over the nurse and the wall.

I had to learn how to stand then walk with a zimmer frame. I spent a lot of my time in a wheelchair, it makes me look at life differently now. During my illness I wasn’t going to be pitied, I was determined I would get there. I used to have a lot of patience but now anything seems to be able to wind me up. I was having physio 5 times a week as well as speech therapy.

The thing that helped me get through the week was that I was allowed to come home on weekends but I dreaded the thought of going back and leaving my family! One day I locked myself in the toilet and couldn’t get out it was so frustrating not being able to get up and open the door. Also I fell on the ward trying to stand on my own because I thought I could do it but I couldn’t.

On a funnier note but it could have been worse. I was sitting in my wheelchair when I noticed that my teddy had fallen to the floor so I thought I had better get it, so I leaned forward in my wheelchair not knowing that I hadn’t applied the brakes and I tipped forward the wheelchair shot backwards and I hit my head on the wall. It is funny now looking back. That incident feels like it was a long time ago and yet in reality it was only about 3 months ago.

Thursday 28th July 2005 is a lovely date, I was discharged from hospital. I had a surprise party waiting on my return and it was very emotional seeing my family and friends.

Since my stroke I have acquired a weird sense of humour which I can’t control. But at least I can now walk around the house unaided but use a zimmer for outdoor use and a wheelchair for when I get tired. I suffer bouts of crying fits which I can’t control but I am on anti depressants to help me.

Being in hospital has made me realise who my friends are. People tell me that they can see improvements every time they see me although it doesn’t seem like it to me. I am having 1 physio session a week, and I am currently on a waiting list for speech therapy, although Phil says that I get enough practise anyway. I get very tired easily and am taking one day at a time.

My family have been excellent throughout my stroke and I wouldn’t be here today without them all. (I have just started crying writing this)

I am waiting for an appointment to see a cardiologist in Cardiff. It is not open heart surgery; they are going to do it through my groin and up to my heart. I am dreading it but know I have to have it done. Then no more blood tests and no more warfarin.

It is now September and 27 weeks since my stroke. I have enrolled for the stroke club every Monday, and I have a new hobby of making cards which keeps me busy and I enjoy it very much.

Thanks for reading my story. Cerri Matthews

Nov
25

Living in a Half World after Stroke

Imagine half of the world you live in, suddenly disappeared. Impossible? There is no such thing for our brains!

 The condition of “half world” is much more common than you would expect. It results most commonly from brain injury( for example stroke, tumor, TBI) to the right brain hemisphere, especially right parietal cortex which causes left hemi-inattention. The patient with hemineglect is unable to percive and process impulses on one side of surroundings and his/her own body, inspite of proper sensory functions. He/She behave as if the affected side of body and space does not exist. In some cases , patients with left spatial neglect can fail to eat the meal on the left half of their plate, even if they complain of being hungry.

Another interesting form of hemineglect syndrome is delusion in which patient denies the left limb or entire left side of the body belongs to him/her!

Treatment consists of long rehabilitation carried out by neuropsychologists and occupational therapists and pharmacology( for example bromocriptine or levodopa).

 

Watch the interview with Oliver Sacks, author, neurologist and patient:

Nov
19

Loss of coordination- ataxia

Lack of coordiantion of voluntary muscule movements is quite common among patients with neurological disorders.

  This symptom, called ataxia, may affect any part of the body and can appear at any age. Stroke Survivors, patients who have Multiple Sclerosis or Brain Tumour may experience symptoms such as: low muscule tone ( hypotonia), lack of coordination in limbs resulting in a loss in movements or speed(asynergy), inability to judge distance or scale, undershooting or overshooting of intended position with arm, hand or leg(dysmetria), inability to accurately estimate the amount of time that has passed, inability to perform rapid, alternating movements(disdiadochokinesia), slurred speech, explosive variations in voice intensity( cerebellar dysarthria) .

 All this signs indicate that cerebellum is ouf of order. This large brain strucutre, attached to bottom of the brain, hidden underneath cerebral hemispheres is the most important motor control center in Central Nervous System. It also plays role in regulating language, attention, fear and pleasure responses. There are types of ataxia caused by dysfunction of dorsal column of the spinal cord but cerebellar ataxias are much more frequent.

 There are many more possible causes of ataxia than stroke, MS or tumors: exogenous substances(most common is alcohol, antiepileptic drugs, cannabis, lithium, dextromethorphan and others), vitamin B12 deficiency, radiation poisoning, large group of herediatry ataxias(autosomal dominant and autosonal recessive spinocerebellar ataxias , episodic ataxia, dentatorubropalldoluysian atrophy, Friedreich’s ataxia, fragile X-associated tremor and ataxia syndrome, Wilson’s disease – inability to properly excere copper from the body and many more)

 The treatment of ataxia depend mostly on the cause of this disorder. Recovery is much better in patients with focal cerebellar injuries ( stroke, MS, bening tumour) compared to those individuals wh have herediatary type of ataxia. The reduction of this disability can be managed by physical therapy and pharmacological treatment( physostigmine, idebenone, 5-hydroxytryptophan, sulfmethoxazole, vigabatrin, acetazolamide, buspiron, coenzime Q10, vitamin E).

 

Below you can watch cerebellum function examination:

Nov
16

Anosognosia- How our Brains lie?

There is a condition in which a patient who suffers disability is not aware of the existance of his/her disorder. Neurologists call it ANOSOGNOSIA. This complicated word derives from Greek( nosos-disease, gnosis-knowledge).

 It was first described by famous Polish-French neurologist Joseph Babinski at the beginning of twentieth century. This condition may be caused by many diseases: Stroke, Traumatic Brain Injury, Tumor all pathologies that can destroy frontal or especially right parietal lobe of the brain.  

 As a physician working at stroke unit I observe patients with left hemiparesis which are not aware of their limbs weakness quite often. When you ask this patient to rise his/her left arm or take a walk, he will try to find many reasons why he can’t do this, but he won’t admit that this is caused by a stroke or any other serious disease. Paralysis is not the only disorder associated with anosognosia. In some cases even blind patients may pretend that their gaze is absolutly normal. In patients with multiple impairments unawarness can concern only one disability or more. We have to realise that anosognosia is not related to any intelectual disturbance. Pretty weird disorder, don’t you think?

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 Psychiatrist borrowed this term from neurology to describe conditions in which patients with mental illness do not have insight to recognize their disorder. It is common in patients with schizophrenia od bipolar disorder. Unfortunately there is no treatment. In many cases altough anosognosia disappear over
a time after stroke. 

Nov
14

How to manage Spasticity

Many disorders of Central Nervous System(Stroke, Traumatic Brain Injury, Multiple Sclerosis, Cerebral Palsy and many more) may impact a structure called upper motor neuron which result in many symptoms such as:

-muscle weakness

-increase deep tendon reflexes

-Babinski sign( big toe extended after stimulation of the sole of the foot)

-decreased voluntary movements control

-SPASTICITY

Spasticity is usually defined as rapidity dependent resistance to stretch, where a absence of inhibition from the Central Nervous System causes excessive contraction of the muscles. This unpleasant condition significantly impedes recovery and disturbs everyday life especially when spasticity causes pain.

How to manage this condition?

Treatment of this kind of disorder may involve several health proffesionals including neurologists, rehabilitation physicians, physical therapists and occupational therapists.

Muscles with mild-to-moderate spasticity should be treated with exercise prescribed by health professional skilled in this kind of rehabilitation(physical therapist, rehabilitation physician). Unfortunately the ability to exercise of muscules with severe spasticity is much more limited. Complications may appear such as postural asymmetries, contractures, deformity. Additional procedures are often reqired such as serial casting, icing, sustained stretching. In this conditions additional equipment must be used ( for example standing frame which sustains standing position). There are many medications that may be useful in severe spasticity: baclofen, clonazepam, diazepam, dantrolene. Supression of signals between nerve fibers and muscles can be achieved by botulinum toxin injections but efficacy vary between patients and highly depend on the level of damage in upper motor neuron pathway.

Most important for patients, familiy members and caregivers is to remember that maintaining range of motion and every day exercises are essential in spasticity treatment.

Check out video: Stroke and Spasticity

Nov
14

Mystery of autism

Many brain disorders, for example Parkinson’s disease, have a clear mechanism at every level: the molecular or cellular. Autism does not work this way. It is not exactly known whether autism is a few disorders caused by mutations converging on a few common neural pathways, or is a large set of disorders with diverse mechanisms.Autism appears to result from developmental factors that affect whole brain and to disturb the timing of brain development more than the final effect. Anatomical and physiological research and teratogens influance on brain development suggest that autism’s mechanism includes alteration of brain development soon after conception.This anomaly appears to start a cascade of pathological events in the brain that are significantly influenced by environmental factors. Right after birth, the autistic children’s brain seem to grow faster than normally , followed by relatively slower growth in later childhood. We do not know whether early overgrowth appear in every autistic patient. The idea for mechanisms of pathological brain overgrowth include: a redundancy of neural cells in important brain areas, impaired migration of neurons, abnormal synapses formation- abnormal synaptic development may also be responsible for epileptic seizures.
One of most important factors in neurodevelopment is proper interaction between nervous system and immune system. Many researchers belive that incorrect immune activity may be responsible for some forms of ASD.

Neurotransmision may also be incorrect. For example serotonin transport may be diffrent in autistic brain than physiological pattern due to genetic mutations causing abnormalities in transporting proteins.
There are much more theories that try to explain pathophysiology of autism, but enigma of this mysterious disorder still remains unsolved.

Nov
11

Headache: Stroke? Migraine? Brain Tumor?

Many people suffer from headaches. Most of them often wonder whether this pain is a serious condition: what if it’s a stroke? ruptured aneurysm? brain tumor?

Serious conditions due to headaches are extremely rare. Here are some tips when you should seek medical help:

A sudden, severe headache that seems to be “your worst ever,” even if you experience headaches often- this may indicate hemorrhagic stroke

Chronic and severe headaches that begin after age of 50- this symptoms may be caused by a stroke or tumor

Headaches accompanied by memory loss, confusion, loss of balance, change in speech or vision, or loss of strength in or numbness/tingling in any one of your limbs

Headaches followed by fever, stiff neck, nausea and vomiting, fever, stiff neck- this symptoms may indicate infection of Central Nervous System

Headaches after a head injury, especially when accompanied by nausea or disorders of consciousness- it may indicate traumatic brain injury

Severe headache localized in the area of one eye with redness of the eye – this symptoms are quite common in patients with galucoma

Nov
08

Thrombolytic Treatment of Acute Stroke (TPA) – Criteria

 

I noticed that many survivors and caregivers is not well-informed about thromobolytic treatment of ischemic stroke( TPA treatment). Below you can see inculsion and exclusion criteria for TPA treatment. In my opinion this is the important information that can save lives. Every patient that is at high risk of stroke should be familiar with it.

I. CLINICAL USE GUIDELINES:

Strict adherence to this protocol is required. Only a small percentage of patients presenting with ischemic stroke will qualify for this therapy. The sooner the tPA is administered within the 4.5 -hour window the better the results. There is a 10 fold increase in risk of intracranial hemorrhage and no benefit in long-term mortality with this therapy. The HELP (partial or complete recovery) to HARM ratio is 33:1, if therapy is delivered within 3 hours. The HELP to HARMratio is decreased if therapy is delivered in the 3-4.5 hour but is still 6:1.An attending physician may initiate therapy after review of patient selection criteria, exclusion criteria and after phone consultation with VCMC neurology attending.

A. Patient Selection CRITERIA (ALL CRITERIAL MUST BE MET):

1. Patient age ≥ 18 years and

2. Well defined onset of stroke symptoms <4.5 hours prior to tPA administration and

3. Diagnosis of acute ischemic stroke with measurable and significant neurological deficits based on

the NIHS Scale

4. Patient or family members understand potential risks and benefits of treatment.

B. Patient EXCLUSION CRITERIA

tPA is contraindicated if any of the following are present:

1. Onset of stroke symptoms >4.5 hours from initiation of tPA therapy, or UNCERTAIN TIME.

2. If therapy initiation being considered between 3-4.5 hours, patients >80 years old, patients taking oral anticoagulation regardless of the INR, NIHS score >25 and those with a combination of prior stroke and diabetes should be excluded.

3. Minor, isolated or rapidly improving stroke symptoms.

4. Seizure at onset of stroke if neurological impairments thought to be a postictal phenomenon.

5. Non-contrast head CT scan NOT done or if CT scan shows evidence of ICH.

6. Stroke symptoms suggestive of subarachnoid hemorrhage despite negative CT scan.

7. CT scan shows multilobar hypodensity consistent with an acute stroke involving >33% of the cerebral

hemisphere or evidence of hemorrhage.. .

8. Caution should be exercised in treating a patient with major deficits (NIHS score >22 predict greater risk of

intracranial hemorrhage).

9. Active bleeding, trauma or fracture.

10. History of stroke, serious head trauma, intracranial surgery or myocardial infarction within last 3 months.

11. History of previous intracranial hemorrhage at any time.

12. History of GI or urinary tract hemorrhage in previous 21 days.

13. History of myocardial infarction within 3 months. 14. History of major surgery or serious trauma within last 14 days.

15. Arterial puncture at non-compressible site or lumbar puncture within 7 days.

16. Intracranial pathology (i.e. neoplasm, AV-malformation, aneurysm, etc.)

17. Uncontrolled abnormal serum glucose: <50 mg/dL . If neurological deficit persists after correction of blood

glucose, may proceed with thrombolysis.

18. Platelet count <100,000/mm3

19. Persistent blood pressure elevation: SBP>185 or DBP >110 mmHg.

  1. Recent anticoagulant therapy with elevated prothrombin INR > 1.5 seconds or elevated aPTT.

 

Based upon VCMC/SANTA PAULA HOSPITAL CLINICAL PRACTICE GUIDELINE, the National Institute of Neurological Disorders (NIND) tPA in acute ischemic stroke study.(NINDS. NEJM 1995; 333:1581) and the AHA/ASA Guideline for Early Management of Adults with Ischemic Stroke (Stroke 2007;38:1655-1711) Department of Medicine 10/2007 

Nov
07

Drug-resistant epileptic seizures and Genes

 

 Many forms of epileptic seizures in humans are caused by genetic mutations that change the properties of ion channels in neurons.

Unfortunately some of these types are often resistant to pharmacological treatment. One of the example is Dravet’s syndrome that is characterized by severe epilepsy, not responsive to treatment with psychomotor retardation and other neurologic deficits. Many children with this syndrome die early in life.

Will there be cure for drug-resistance seizures in the future? Maybe genes know the answer?

Check out the video:

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