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 ?
It is well-known that migraine could be the only clinical manifestation of CADASIL in some cases and phenotype of CADASIL did not clearly associate with genotype.
In our family, mutations in exons 2, 3, 4, 5, 6, and 11, which account for more than 90% of CADASIL causing mutations, were excluded by direct sequencing.
The MR imaging findings of CADASIL generally correlate with the histopathologic findings found on biopsy.
A second classic feature of CADASIL is subcortical lacunar infarctions (Figure 8).
Mr Low, who has now taken up his appointment, said: "This is going to take time and money but we need to find a cure for CADASIL.
It is the first time a study has provided evidence that blood vessels elsewhere in the body, apart from the brain, in CADASIL sufferers are abnormal in over-constricting in response to the hormone.
By revealing that blood vessels in CADASIL patients over-react to the hormone angiotensin II the study offers insight into new approaches to prevent stroke and other brain disorders,' he said.
Apart from the granular material all other vascular changes observed in CADASIL can be seen in Binswanger subcortical arteriopathy.
The diagnosis of CADASIL can be difficult, owing to overlapping features with other cerebrovascular disorders.
CADASIL, Col IV and TREX1 mutations are recently identified genes of familial vascular leucoencephalopathies.
And I realised that if I wanted to anything to help CADASIL sufferers I had to keep myself alive.
CADASIL is an autosomal dominant widespread arteriopathy, which may present with migraine, ischaemic central nervous system lesions (transient ischaemic attacks/strokes), subcortical dementia, and mood disorders.