How Do You Spell CADASILS?

1. CADASIL, short for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, is a rare genetic disorder that primarily affects the small blood vessels in the brain. It is inherited in an autosomal dominant pattern, meaning that a person can develop the condition if they inherit a single mutated gene from one affected parent.

   The main characteristic of CADASIL is the progressive damage to the walls of the blood vessels, mainly the arteries. This results in the accumulation of deposits called granular osmiophilic material (GOM) that disrupt the blood flow and lead to the death of cells in the brain and surrounding areas. Symptoms of CADASIL typically onset between the ages of 30 and 50 and can vary widely among individuals.

   The most common symptoms include migraines, recurrent strokes, mood changes, cognitive decline, and psychiatric symptoms such as depression and anxiety. Other possible manifestations may involve changes in the gait, urinary incontinence, and seizures.

   Currently, there is no cure for CADASIL, and treatment focuses on managing symptoms and preventing complications. Medications such as antiplatelet and anticoagulant drugs may be prescribed to reduce the risk of stroke. Psychological support and counseling can also be beneficial for individuals and their families dealing with the emotional impact of the disease.

   Genetic testing can confirm the presence of mutations in the NOTCH3 gene, which is responsible for CADASIL. It is essential for individuals with a family history of CADASIL to undergo genetic counseling and testing to assess their risk and make informed decisions regarding family planning.

Common Misspellings for CADASILS

The acronym "CADASIL" stands for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. It is a genetic disorder that affects the blood vessels in the brain.

The term "CADASIL" was coined by a group of French researchers who first described the disorder in 1993. The etymology of the acronym is as follows:

- Cerebral: Refers to the brain, indicating its involvement.

- Autosomal Dominant: Autosomal refers to inheritance from one of the non-sex chromosomes, and dominant indicates that only one copy of the faulty gene is necessary to cause the disease.

- Arteriopathy: Refers to a disorder of the arteries.

- with Subcortical Infarcts: Describes the presence of small strokes in the subcortical regions of the brain.