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CADASIL and Fabry disease screening

Aim: Excluding single gene disorders prior to looking for novel genetic variants . CADASILCovered in grantStartedResults anonymousFabry. CADASIL. CADASIL - Cerebral autosomal dominant arteriopathy subcortical infarcts and leukoencephalopathy:Early onset lacunar strokesSubcortical dementia Ps

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CADASIL and Fabry disease screening

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    1. 30/09/08 CADASIL and Fabry disease screening A DNA Resource for Lacunar Stroke & BSWISS Investigator’s Meeting Karina Meidtner

    2. Aim: Excluding single gene disorders prior to looking for novel genetic variants CADASIL Covered in grant Started Results anonymous Fabry

    3. CADASIL CADASIL - Cerebral autosomal dominant arteriopathy subcortical infarcts and leukoencephalopathy: Early onset lacunar strokes Subcortical dementia Psychiatric disturbances especially depression Migraine Lacunar stroke and leukoaraiosis on MRI Caused by mutations in the NOTCH3 gene Little data on mutation frequency in apparently sporadic lacunar stroke ( Dong et al., 2003: CADASIL mutation carrier frequency in lacunar stroke patients is 0.05% but all ages and few young patients ) Underdiagnosed in the wider stroke population majority of patients with small-vessel disease do not have a typical autosomal dominant family history and have 1 or more vascular risk factors, most commonly hypertensionUnderdiagnosed in the wider stroke population majority of patients with small-vessel disease do not have a typical autosomal dominant family history and have 1 or more vascular risk factors, most commonly hypertension

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