INTRODUCTION: CADASIL is a hereditary cerebral arteriopathy leading to progressive disability and dementia usually observed at 60 years. OBSERVATION: We report four patients aged>60 years with typical Notch3 mutations leading to CADASIL who did not have dementia or disability. Three of them presented with only transient neurological manifestations. MRI results showed extensive hyperintense signals in the white-matter on T2-weighted images contrasting with very few lacunar infarcts. CONCLUSION: These observations suggest that silent or symptomatic infarcts, which were rare in the present cases may be responsible for the clinical severity in this disorder.
INTRODUCTION: CADASIL is a hereditary cerebral arteriopathy leading to progressive disability and dementia usually observed at 60 years. OBSERVATION: We report four patients aged>60 years with typical Notch3 mutations leading to CADASIL who did not have dementia or disability. Three of them presented with only transient neurological manifestations. MRI results showed extensive hyperintense signals in the white-matter on T2-weighted images contrasting with very few lacunar infarcts. CONCLUSION: These observations suggest that silent or symptomatic infarcts, which were rare in the present cases may be responsible for the clinical severity in this disorder.