BACKGROUND AND PURPOSE: @entity74 with @entity1188 and @entity62 (CADASIL), caused by mutations in the @entity7363 gene, is the most common @entity74 causing @entity64 and @entity6249 ( @entity6249 ). @entity2314 ( @entity2314 ) due to mutations in the @entity10153 gene has been suggested as an underdiagnosed cause of @entity64 , and one feature is @entity6249 . Previous studies reported varying prevalence of CADASIL and @entity2314 in @entity64 , likely due to varying subtypes studied; no studies have looked at a large cohort of younger onset @entity6249 . We determined the prevalence in a well-defined, MRI-verified cohort of apparently sporadic @entity1 with @entity1188 . METHODS: Caucasian @entity1 with @entity1188 , aged  <=70 years (mean age 56.7 (SD8.6)), were recruited from 72 specialist @entity64 centres throughout the UK as part of the Young @entity64 DNA Resource. @entity1 with a previously confirmed monogenic cause of @entity64 were excluded. All MRI's and clinical histories were reviewed centrally. Screening was performed for @entity7363 and @entity10153 mutations. RESULTS: Of 994 subjects five had pathogenic @entity7363 mutations ( @entity20471 , @entity69851 , @entity33069 , @entity69852 and @entity69853 ) all resulting in loss or gain of a @entity462 in the @entity7363 protein. All five @entity1 had @entity10334 (Fazekas grade >= 2). CADASIL prevalence overall was 0.5% (95% CI 0.2%-1.1%) and among cases with @entity10334 1.5% (95% CI 0.6%-3.3%). No classic pathogenic @entity2314 mutations were found; one @entity1 had a missense mutation ( @entity69854 ), associated with late-onset @entity2314 . CONCLUSION: CADASIL cases are rare and only detected in @entity6249 @entity1 with @entity10334 . No definite @entity2314 cases were detected.

Prevalence of CADASIL and @entity2314 in a Cohort of MRI Defined Younger Onset XXXX .

@entity1 :: ('9606', 'Species') :: ['patient', 'Patients', 'patients'] @entity64 :: ('MESH:D020521', 'Disease') :: ['lacunar stroke', 'Lacunar Stroke', 'stroke'] @entity462 :: ('MESH:D003545', 'Chemical') :: ['cysteine'] @entity69853 :: ('p|SUB|C|323|S', 'ProteinMutation') :: ['C323S'] @entity6249 :: ('MESH:D059345', 'Disease') :: ['cerebral small vessel disease', 'SVD'] @entity33069 :: ('p|SUB|R|587|C', 'ProteinMutation') :: ['R587C'] @entity69852 :: ('c|SUB|C|1222|G', 'DNAMutation') :: ['C1222G'] @entity20471 :: ('p|SUB|R|169|C', 'ProteinMutation') :: ['R169C'] @entity69851 :: ('p|SUB|R|207|C', 'ProteinMutation') :: ['R207C'] @entity7363 :: ('4854', 'Gene') :: ['NOTCH3'] @entity1188 :: ('MESH:D007238', 'Disease') :: ['lacunar infarct', 'lacunar infarction', 'subcortical infarcts'] @entity2314 :: ('MESH:D000795', 'Disease') :: ['FD', 'Fabry disease'] @entity74 :: ('MESH:D030342', 'Disease') :: ['monogenic disorder', 'Cerebral autosomal dominant arteriopathy'] @entity69854 :: ('p|SUB|R|118|C', 'ProteinMutation') :: ['R118C'] @entity10334 :: ('MESH:D049292', 'Disease') :: ['confluent leukoaraiosis'] @entity62 :: ('MESH:D056784', 'Disease') :: ['leukoencephalopathy'] @entity10153 :: ('2717', 'Gene') :: ['GLA']
@entity64 :: (MESH:D020521,Disease) :: ['Lacunar Stroke']
