CADASIL Syndrome
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 […] Read More
Top Doctors For CADASIL Syndrome Treatments
Top Hospitals For CADASIL Syndrome Treatments
CADASIL Syndrome
Symptoms
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.
- Nausea.
- Vomiting.
- Abnormal eye protein.
- Head motion intolerance.
- Acute vestibular syndrome and rapid experience of vertigo over hours.
Causes
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.
FAQ
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.