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CADASIL
Karen L. Salzman, MD; Ulrich Rassner, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
            • Definitions

              • Hereditary small-vessel disease due to mutations in NOTCH3 gene on chromosome 19, which causes stroke in young to middle-aged adults

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Angiographic Findings

                      • Nuclear Medicine Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Gross Pathologic & Surgical Features

                                • Microscopic Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Consider

                                            • Image Interpretation Pearls

                                              Selected References

                                              1. Ayrignac X et al: Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients. Brain. 138(Pt 2):284-92, 2015
                                              2. Bianchi S et al: CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. J Neurol. 262(1):134-41, 2015
                                              3. De Guio F et al: White matter edema at the early stage of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 46(1):258-61, 2015
                                              4. De Guio F et al: Decreased T1 contrast between gray matter and normal-appearing white matter in CADASIL. AJNR Am J Neuroradiol. 35(1):72-6, 2014
                                              5. De Guio F et al: Loss of venous integrity in cerebral small vessel disease: a 7-T MRI study in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Stroke. 45(7):2124-6, 2014
                                              6. Chabriat H et al: Cadasil. Lancet Neurol. 8(7):643-53, 2009
                                              7. Reyes S et al: Apathy: a major symptom in CADASIL. Neurology. 72(10):905-10, 2009
                                              8. Liem MK et al: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: progression of MR abnormalities in prospective 7-year follow-up study. Radiology. 249(3):964-71, 2008
                                              9. Piccirillo G et al: Increased QT variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Eur J Neurol. 15(11):1216-21, 2008
                                              10. Scheid R et al: Cysteine-sparing notch3 mutations: cadasil or cadasil variants? Neurology. 71(10):774-6, 2008
                                              11. Rufa A et al: Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Stroke. 38(2):276-80, 2007
                                              12. Buffon F et al: Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry. 77(2):175-80, 2006
                                              13. Opherk C et al: Heritability of MRI lesion volume in CADASIL: evidence for genetic modifiers. Stroke. 37(11):2684-9, 2006
                                              14. Singhal S et al: The spatial distribution of MR imaging abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and their relationship to age and clinical features. AJNR Am J Neuroradiol. 26(10):2481-7, 2005
                                              15. Opherk C et al: Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 127(Pt 11):2533-9, 2004
                                              16. Peters N et al: A two-year clinical follow-up study in 80 CADASIL subjects: progression patterns and implications for clinical trials. Stroke. 35(7):1603-8, 2004
                                              17. Tuominen S et al: Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients. Stroke. 35(5):1063-7, 2004
                                              18. Dong Y et al: Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis. Stroke. 34(1):203-5, 2003
                                              19. Lesnik Oberstein SA et al: Incipient CADASIL. Arch Neurol. 60(5):707-12, 2003
                                              20. Lesnik Oberstein SA et al: Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Medicine (Baltimore). 82(4):251-6, 2003
                                              21. Schon F et al: "CADASIL coma": an underdiagnosed acute encephalopathy. J Neurol Neurosurg Psychiatry. 74(2):249-52, 2003
                                              22. Tatsch K et al: Cortical hypometabolism and crossed cerebellar diaschisis suggest subcortically induced disconnection in CADASIL: an 18F-FDG PET study. J Nucl Med. 44(6):862-9, 2003
                                              23. van den Boom R et al: Cerebral hemodynamics and white matter hyperintensities in CADASIL. J Cereb Blood Flow Metab. 23(5):599-604, 2003
                                              24. Auer DP et al: Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison. Radiology. 218(2):443-51, 2001
                                              25. Bruening R et al: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: decrease in regional cerebral blood volume in hyperintense subcortical lesions inversely correlates with disability and cognitive performance. AJNR Am J Neuroradiol. 22(7):1268-74, 2001
                                              26. Chabriat H et al: Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking. Stroke. 31(8):1904-12, 2000
                                              27. Desmond DW et al: The natural history of CADASIL: a pooled analysis of previously published cases. Stroke. 30(6):1230-3, 1999
                                              28. Davous P: CADASIL: a review with proposed diagnostic criteria. Eur J Neurol. 5(3):219-233, 1998
                                              29. Dichgans M et al: The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol. 44(5):731-9, 1998
                                              30. Tournier-Lasserve E et al: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet. 3(3):256-9, 1993
                                              Related Anatomy
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                                              Related Differential Diagnoses
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                                              References
                                              Tables

                                              Tables

                                              KEY FACTS

                                              • Terminology

                                                • Imaging

                                                  • Top Differential Diagnoses

                                                    • Pathology

                                                      • Clinical Issues

                                                        TERMINOLOGY

                                                        • Abbreviations

                                                          • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
                                                        • Definitions

                                                          • Hereditary small-vessel disease due to mutations in NOTCH3 gene on chromosome 19, which causes stroke in young to middle-aged adults

                                                        IMAGING

                                                        • General Features

                                                          • CT Findings

                                                            • MR Findings

                                                              • Ultrasonographic Findings

                                                                • Angiographic Findings

                                                                  • Nuclear Medicine Findings

                                                                    • Imaging Recommendations

                                                                      DIFFERENTIAL DIAGNOSIS

                                                                        PATHOLOGY

                                                                        • General Features

                                                                          • Gross Pathologic & Surgical Features

                                                                            • Microscopic Features

                                                                              CLINICAL ISSUES

                                                                              • Presentation

                                                                                • Demographics

                                                                                  • Natural History & Prognosis

                                                                                    • Treatment

                                                                                      DIAGNOSTIC CHECKLIST

                                                                                      • Consider

                                                                                        • Image Interpretation Pearls

                                                                                          Selected References

                                                                                          1. Ayrignac X et al: Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients. Brain. 138(Pt 2):284-92, 2015
                                                                                          2. Bianchi S et al: CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. J Neurol. 262(1):134-41, 2015
                                                                                          3. De Guio F et al: White matter edema at the early stage of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 46(1):258-61, 2015
                                                                                          4. De Guio F et al: Decreased T1 contrast between gray matter and normal-appearing white matter in CADASIL. AJNR Am J Neuroradiol. 35(1):72-6, 2014
                                                                                          5. De Guio F et al: Loss of venous integrity in cerebral small vessel disease: a 7-T MRI study in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Stroke. 45(7):2124-6, 2014
                                                                                          6. Chabriat H et al: Cadasil. Lancet Neurol. 8(7):643-53, 2009
                                                                                          7. Reyes S et al: Apathy: a major symptom in CADASIL. Neurology. 72(10):905-10, 2009
                                                                                          8. Liem MK et al: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: progression of MR abnormalities in prospective 7-year follow-up study. Radiology. 249(3):964-71, 2008
                                                                                          9. Piccirillo G et al: Increased QT variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Eur J Neurol. 15(11):1216-21, 2008
                                                                                          10. Scheid R et al: Cysteine-sparing notch3 mutations: cadasil or cadasil variants? Neurology. 71(10):774-6, 2008
                                                                                          11. Rufa A et al: Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Stroke. 38(2):276-80, 2007
                                                                                          12. Buffon F et al: Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry. 77(2):175-80, 2006
                                                                                          13. Opherk C et al: Heritability of MRI lesion volume in CADASIL: evidence for genetic modifiers. Stroke. 37(11):2684-9, 2006
                                                                                          14. Singhal S et al: The spatial distribution of MR imaging abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and their relationship to age and clinical features. AJNR Am J Neuroradiol. 26(10):2481-7, 2005
                                                                                          15. Opherk C et al: Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 127(Pt 11):2533-9, 2004
                                                                                          16. Peters N et al: A two-year clinical follow-up study in 80 CADASIL subjects: progression patterns and implications for clinical trials. Stroke. 35(7):1603-8, 2004
                                                                                          17. Tuominen S et al: Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients. Stroke. 35(5):1063-7, 2004
                                                                                          18. Dong Y et al: Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis. Stroke. 34(1):203-5, 2003
                                                                                          19. Lesnik Oberstein SA et al: Incipient CADASIL. Arch Neurol. 60(5):707-12, 2003
                                                                                          20. Lesnik Oberstein SA et al: Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Medicine (Baltimore). 82(4):251-6, 2003
                                                                                          21. Schon F et al: "CADASIL coma": an underdiagnosed acute encephalopathy. J Neurol Neurosurg Psychiatry. 74(2):249-52, 2003
                                                                                          22. Tatsch K et al: Cortical hypometabolism and crossed cerebellar diaschisis suggest subcortically induced disconnection in CADASIL: an 18F-FDG PET study. J Nucl Med. 44(6):862-9, 2003
                                                                                          23. van den Boom R et al: Cerebral hemodynamics and white matter hyperintensities in CADASIL. J Cereb Blood Flow Metab. 23(5):599-604, 2003
                                                                                          24. Auer DP et al: Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison. Radiology. 218(2):443-51, 2001
                                                                                          25. Bruening R et al: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: decrease in regional cerebral blood volume in hyperintense subcortical lesions inversely correlates with disability and cognitive performance. AJNR Am J Neuroradiol. 22(7):1268-74, 2001
                                                                                          26. Chabriat H et al: Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking. Stroke. 31(8):1904-12, 2000
                                                                                          27. Desmond DW et al: The natural history of CADASIL: a pooled analysis of previously published cases. Stroke. 30(6):1230-3, 1999
                                                                                          28. Davous P: CADASIL: a review with proposed diagnostic criteria. Eur J Neurol. 5(3):219-233, 1998
                                                                                          29. Dichgans M et al: The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol. 44(5):731-9, 1998
                                                                                          30. Tournier-Lasserve E et al: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet. 3(3):256-9, 1993