CADASIL


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CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts & leukoencephalopathy. An autosomal dominant neurologic disorder of adult onset caused by mutations in NOTCH3, which maps to chromosome 19q12.

Clinical findings
Migraine, recurrent strokes, progressive dementia.

Diagnosis
MRI—anterior temporal pole involvement, skin biopsy with anti-NOTCH3 antibody.

DiffDx
Binswanger’s disease

Management
Supportive
References in periodicals archive ?
Reaching the diagnosis and follow-up in patients with CADASIL relies mainly on MRI findings [24,25].
A 58 year old man with a confirmed diagnosis of CADASIL. The patient was a diabetic (diabetes mellitus) with no clinical history of hypertension, substance use (except cigarettes--he smoked 30 per day until about 10 years ago), head trauma, or psychopathological alterations.
CADASIL imitating multiple sclerosis: the importance of MRI markers.
A genetic form of vascular dementia, CADASIL, has been discovered, and the mutant gene identified as Notch 3.
Cadasil (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) triggers strokes, migraine and dementia in young people.
Blood vessels in CADASIL patients over-react to the hormone angiotensin II, which is part of an important system that regulates blood pressure.
(5) Periventricular hyperintensities are seen even in asymptomatic patients, and CADASIL should be diagnosed with caution in its absence.
This study showed that an activating antibody directed against Notch3 reduced mural cell loss, a hallmark characteristic of CADASIL. Although still in mice, this suggests that activating Notch3 antibodies could be developed as therapeutics to reduce disease progression in CADASIL patients.
The features of the MRI were extensive and bilateral cerebral hemisphere WMHLs, especially bilateral ATWMHLs which were strong suggestive to subcortical infarcts and leukoencephalopathy autosomal dominant cerebral artery disease (CADASIL), and some types of autoimmune diseases like Hashimoto encephalopathy.
Q My 49-year-old nephew has been diagnosed with CADASIL, which we have been told leads to cognitive decline.
The diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) was excluded with high certainty, because granular osmiophilic deposits in the capillaries, which are diagnostic for CADASIL, were not observed.
Of note, although detailed investigations for stroke etiology were conducted before making the diagnosis of cryptogenic stroke; genetic investigations for CADASIL, which is the most common monogenic disorder causing lacunar stroke and cerebral small vessel disease,[17] was not performed.