My name is Silvia and I live in La Plata, Buenos Aires.  When I turned 47, I was diagnosed with CADISIL disease (today I am 52). CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19.

The disease belongs to a family of disorders called the Leukodystrophies. The most common clinical manifestations are migraine headaches and transient ischemic attacks or strokes, which usually occur between 40 and 50 years of age, although MRI is able to detect signs of the disease years prior to clinical manifestation of disease.

The primary symptoms for me are strong headache and lost partial recent memory. My father and uncles all suffered from CADASIL as well.  In 2012, after nearly 28 years as a doctor in biology, I retired from teaching.  Today, my hobby is the basketery.

I have hope in my genes!  For more information on CADASIL, visit the CADASIL Foundation.

1 thought on “Hereditary Stroke Disorder Called CADISIL Disease Runs In Families – A Rare Story from Buenos Aires”

  1. Julie Rodela says:

    Wow, is all I can say. I have a now 28 yr old son that I don’t think got diagnosed right when he was 4 or 6 yrs old one was viral enciphilitis and the 2nd they though leahs disease, but we seen a dr haas in CA , after all testing his results went back to viral enciphilitis, he did at that time had lesions on the brain stem. He had some issues going up but was able to do medical assistance. To me that was like a rn nurse, he is a fighter, he does get alot of headaches and can be clumbsie ,after 2 days of work he can be tired. He is married with a child that is about 18 months, she was told she might have leukodystrophy. That is another story of its own. I’ve had aunts, grandparents, great-aunts and my sister just had a stroke. I have many headaches but that’s about it. What was written sounds a little of more of the leukodystrophy. I should get tested with genetics. It scares me.

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