WHAT IS CADASIL SYNDROME?
CADASIL or “CADASIL syndrome”, as it is popularly called, is an acronym for the condition known as “Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Syndrome“. This syndrome is known to be a hereditary stroke disorder.
Cadasil syndrome is inherited in an autosomal dominant way which clarifies the existence of a mutation in just one copy of the gene in each cell that can prompt the cadasil syndrome.
In rare cases, cadasil can be a result of a new mutation in the gene that may not be inherited by another parent. The chances of occurrence for inherited cases can be placed at 50%. Cadasil syndrome life expectancy is reduced in people diagnosed with Cadasil due to possible lung and heart diseases accompanied by symptoms such as damages to the blood vessels.
This stroke (Cadasil syndrome) is among the most common hereditary cerebral angiopathy and it is a result of gene mutation of the Notch 3 on the chromosomes. The severity of this syndrome is relative to the irregular accumulation of little infarcts and the development of cerebral atrophy over time.
The disease responsible for the mutations are known as leukodystrophies. The leukodystrophies are said to a family of disorders. Migraine headache sets in, transient ischemic attacks are present accompanied by strokes.
Cadasil syndrome occurrence is basically for patients with an age range of 40 to 50 years. The Cadasil syndrome occurs equally in men and women as it is not gender-dependent but age-dependent. Then the magnetic resonance imaging is used to detect the duration of the signs and symptoms of the disease.
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Syndrome (CADASIL) is accompanied by progressive dementia, migraine headaches, transient ischemic attacks tagged with strokes, mood disorders, and recurrent subcortical cerebral infarctions.
CADASIL SYNDROME DIAGNOSIS
The determination of the CADASIL sy.ndrome is challenging due to the nature of the condition relative to genes. Medical history, physical examination, symptoms present, and laboratory tests are used to make a diagnosis by a professional medical specialist. They provide deductions for diagnosis and testing of this condition.
Magnetic resonance imaging can aid early detection of changes in the white lesions but it can not be used for diagnosis.
Cadasil syndrome test can also be done by extracting a sample of blood and performing a definitive test by sequencing the whole Notch 3 gene. But this method is expensive so the best and effective means of testing for CADASIL syndrome is performing a skin biopsy where tissues in the skin will be extracted for testing.
CADASIL SYNDROME TREATMENT
There is no known cure or effective treatment for cadasil syndrome, though a treatment form known as antiplatelet treatment is mostly used it has not proven to be successful and some medical specialists do not approve of this treatment as it can lead to micro bleeding in the brain and safety of the antiplatelet drugs are still not known.
Therefore, for patients with symptoms like migraine, preventative methods for treatments can be utilized both symptomatically and prophylactically all dependent on the severity of the symptoms. Medications that can act as means of preventing migraine are acetazolamide and sodium valproate. While medications that can be used for cases of cognitive decline include acetylcholinesterase inhibitor.
For cases of hypertension, hypercholesterolemia i.e high cholesterol in the body, treatments can be recommended such as supportive care, emotional support, and counseling by family members and friends.
Therapies for smoking, thrombolytic, anticoagulants, and angiography should be avoided for patients with CADASIL syndrome as they spike the chances of stroke and bleeding in the blood.
Finally, follow-ups should be done by a neurologist to monitor the patient with CADASIL right from the time of diagnosis alongside different specialists to monitor parts of the body based on their field.
CADASIL SYNDROME PROGNOSIS
The symptoms experienced by patients with CADASIL progress gradually with age. At the age of 65, severe issues like dementia and cognitive problems are imminent where some patients can no longer walk while some depend completely on the care of a guardian due to massive strokes.
CADASIL SYNDROME SYMPTOMS
Generally, the first sign experienced is attacks of migraine accompanied by aura and damages to the blood vessel. Other symptoms include strokes, subcortical transient ischemic attacks, or mood disorders. Since the age group is a factor, if these symptoms are present between the age group of 40 to 50 years, it can aid diagnosis.
Cadasil syndrome is associated with dementia, therefore, after the early stages of the disease, the phase migrates to subcortical dementia with urine incontinence. Inability to walk and pseudobulbar palsy.
Other common symptoms are:
- Psychiatric issues involving depression, anxiety, and apathy occur in about 30% of patients diagnosed with CADASIL.
- Possible epilepsy due to seizures experienced. This occurs in about 10% of the affected people and they are usually present in middle age people.
- Diffusion of white matter lesions with subcortical infarcts on neuroimaging.
Rare signs and symptoms that may be experienced may include:
- Parkinsonism involves slow movements in some parts of the body mostly the legs then tremors.
- Frequent amnesia.
- Neuropathological issues such as the dysfunction of one or more of the peripheral nerves, which leads to numbness or weakness.
- Myopathy involving weakness of the muscles attributed to a muscular disease.
- Coma, confusion, lack of concentration, and fever.
- Involvement of the spinal cord.
- Abnormal eye protein.
- Head motion intolerance.
- Acute vestibular syndrome and rapid experience of vertigo over hours.
WHAT CAUSES CADASIL SYNDROME?
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Syndrome (CADASIL) causes can be attributed to a variance in the Notch gene in the chromosomes. This Notch3 gene is responsible for the regulation of the Notch3 receptor protein required for normal function and increment of the survival rate of the vascular smooth muscle cells.
Variations in the gene trigger the development of an abnormal protein, thereby, limiting the function of the Notch3 receptor protein and survival of the vascular smooth muscle cells resulting in the self-destruction of the cells. This self-destruction leads to damages in the blood vessel which is known to be a characterized feature of CADASIL.
What is the life expectancy of someone with Cadasil Syndrome?
The precise mortality rate for patients with Cadasil is not certain, though, the age range for stroke is between 45 to 50 years. The average age for death occurrence is placed at 61 years after a mean duration of disease of about 23 years. The male gender dies earlier than women for this syndrome.
Is Cadasil a terminal illness?
It is a gradual process but in the long run, it can lead to disabilities like the inability to walk and then premature death. Both the severity of the disease with time varies differently in the patients.
How do you get Cadasil?
In most cases, the cadasil is gotten through an affected parent while rare cases involve changes and mutation of the Notch3 gene in the chromosomes.
What is Cadasil dementia?
Cadasil is an inherited disorder that results in the development of a vascular disease causing dementia.
What are the 5 warning signs of a stroke?
Warning signs of a stroke are difficulty in talking, confusion, weakness in one side of the body, difficulty in sight, severe migraine headache.