Keyword Analysis & Research: carasil vs cadasil


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What are CADASIL and CARASIL?

1 Protein Chemistry Unit, Institute of Biomedicine/Anatomy, University of Helsinki, Helsinki, Finland. CADASIL and CARASIL are hereditary small vessel diseases leading to vascular dementia. CADASIL commonly begins with migraine followed by minor strokes in mid-adulthood.

How does CARASIL affect the body?

CARASIL requires both parents be carriers of the condition in order for symptoms to be present. Both forms of the condition affect the blood vessels of the brain. As abnormal muscle cells surrounding the blood vessels gradually die off, the blood vessels themselves are damaged (arteriopathy).

Is CADASIL a homozygous or heterozygous disease?

Although CADASIL is generally caused by heterozygous mutations in NOTCH3, several CADASIL cases involving homozygous mutations have been reported (Mukai et al., 2018).

What are the symptoms of CADASIL syndrome?

Depression, psychosis, pseudobulbar palsy and focal neurological defects as well as seizures are also seen 2,3. CADASIL results from a mutation on chromosome 19p13.12 involving the NOTCH3 gene, and as the name implies is inherited as an autosomal dominant trait.

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