... experienced (neuro)pathologist, usually allows for a conclusive CADASIL diagnosis [ Rutten et al 2014 ]. Clinical Characteristics Clinical Description ... Approximately 70% of European individuals with a clinical CADASIL diagnosis have a pathogenic variant in one of the ...

... Morroni (2013) Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients Not a ... randomised double-blind trial in CADASIL Population had CADASIL and MCI not a formal dementia diagnosis Diehl-Schmid (2008) A 6-month, open-label ...

... Overlapping w/RVCL-S Distinguishing from RVCL-S CADASIL NOTCH3 AD Focal neurologic symptoms Progressive cognitive decline Migraine Mood disturbances Apathy White ...

... de Yebenes, and Justo Garcia (2009) On the diagnosis of CADASIL. Journal of Alzheimer’s disease: JAD 17(4), ...

... impairment, peripheral neuropathy, learning disability, & short stature NOTCH3 CADASIL AD Migraine may be 1st symptom; occurs in 30%-75% of persons, w/1st ...

... to smooth muscle cells, a pathologic hallmark for CADASIL, is never observed in CARASIL. HTRA1 Disorder Caused by a Heterozygous Pathogenic Variant ( HTRA1 Cerebral Small Vessel Disease) Neurologic symptoms typically begin after age 40 years [ Nozaki et ...

... family w/9 affected persons. AD = autosomal dominant; CADASIL = c erebral a utosomal d ominant a rteriopathy w/ s ubcortical i nfarcts & l eukoencephalopathy; MOI = mode of inheritance Differential Diagnosis The differential diagnosis for NOTCH3 -related lateral meningocele ...

... peripheral neuropathy. Disorders to consider in the differential diagnosis include the following: MELAS ... [ Sicurelli et al 2005 ]; however, peripheral neuropathy has ...

... hemorrhage [ Jeanne et al 2012 ]. Variably present extracerebral symptoms included cerebellar and optic atrophy, cataracts, intracranial aneurysms, nephropathy, and myopathy [ Verbeek et al 2012 , Gunda et al 2014 ]. CADASIL ( c erebral a utosomal d ominant a rteriopathy ...