What is CADASIL?

Why is CADASIL often misdiagnosed?

CADASIL is a rare, systemic, genetic blood disorder caused by a mutation on the Notch 3 gene. The mutation leads to a misfolding of protein called granular osmiophilic material (GOM). GOM deposits into the smooth muscle walls of small and medium blood vessels. Over time, the blood vessels weaken, causing them to collapse or weep. Although systemic, brain tissue is primarily impacted by this protein misfolding leading to neurodegeneration.

The progression of CADASIL can bring on a myriad of symptoms throughout a person’s lifetime.

It is important to note, a person may not suffer from all symptoms and the severity of symptoms are as individual as the person.

Symptoms, and why CADASIL can be overlooked or misdiagnosed, see below:

Migraines are common among the general population and can be familial migraines. Doctors don’t make the association with genetic disease.

Mood disturbances occurring in young or older adults do not automatically lead a doctor to think a genetic disease may be responsible.

Limb Tremors may be mistaken for Parkinson’s Disease or ALS.

Cognitive Decline is normally associated with aging. Cognitive decline in a young or middle aged adult is a red flag when head trauma is not involved.

Small Strokes in CADASIL patients can look like an MS lesions on an MRI.

Micro Bleeds in CADASIL patients can often go undetected.

White Matter Disease is associated with aging. Is the degree of white matter changes appropriate for a person’s age?

Young dementia and Alzheimer’s can happen, but what is the root cause? Is the degree of white matter changes appropriate for a person’s age? Does the patient have any other symptoms that might point to CADASIL?

Is there a family history of neurological disorders?

Doctors need to not only take a detailed medical history of the patient, but also a detailed medical history of the family.

At this time, the accepted number of people living with CADASIL is similar to that of ALS, approximately 5 in 100,00 people.

Recent studies of the Notch 3 gene estimate 1 in 450 carry some type of Notch 3 mutation.*

Research is vital to better understand all Notch 3 mutations and develop appropriate treatments.

*As reported: Work underway to develop new therapies for those with CADASIL – Spectrum News 1 NYS, Capital Region https://tinyurl.com/32pmdrcs