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Danchenko I.Iu.

GBOU VPO "Permskaia gosudarstvennaia meditsinskaia akademiia im. akad. E.A. Vagnera", Perm'

Kulesh A.A.

Permskaia gosudarstvennaia meditsinskaia akademiia im. akad. E.A. Vagnera

Drobakha V.E.

Vagner Perm Medical University, Perm, Russia

Kanivets I.V.

Research Center for Medical Genetics «Genomed», Moscow, Russia

Akimova I.A.

Research Centre for Medical Genetics, Moscow, Russia

Monak A.A.

Vagner Perm State Medical University, Perm, Russia

CADASIL syndrome: differential diagnosis with multiple sclerosis

Authors:

Danchenko I.Iu., Kulesh A.A., Drobakha V.E., Kanivets I.V., Akimova I.A., Monak A.A.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2019;119(10‑2): 128‑136

DOI: 10.17116/jnevro2019119102128

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Table of contents

CADASIL SYNDROME: DIFFERENTIAL DIAGNOSIS WITH MULTIPLE SCLEROSIS
CADASIL SYNDROME: DIFFERENTIAL DIAGNOSIS WITH MULTIPLE SCLEROSIS

To cite this article:

Danchenko IIu, Kulesh AA, Drobakha VE, Kanivets IV, Akimova IA, Monak AA. CADASIL syndrome: differential diagnosis with multiple sclerosis. S.S. Korsakov Journal of Neurology and Psychiatry. 2019;119(10‑2):128‑136. (In Russ.)
https://doi.org/10.17116/jnevro2019119102128

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски (S.S. Korsakov Journal of Neurology and Psychiatry (special issues))
 
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Abstract:

Two cases of clinical and MRI manifestations of genetically verified CADASIL syndrome in female patients under 40 years of age are presented. The primary misinterpretation of clinical data and the neuroimaging results within multiple sclerosis indicates a lack of awareness of radiologists and neurologists about this disease. The article reviewed the current literature on the problems of diagnosis and treatment of CADASIL. The clinical and neuroimaging pattern of the syndrome, the approaches to genetic testing and the basic principles of patient management are considered in detail.

Keywords:

CADASIL
multiple sclerosis
demyelination
migraine
stroke
Notch3

Authors:

Danchenko I.Iu.

GBOU VPO "Permskaia gosudarstvennaia meditsinskaia akademiia im. akad. E.A. Vagnera", Perm'

Kulesh A.A.

Permskaia gosudarstvennaia meditsinskaia akademiia im. akad. E.A. Vagnera

Drobakha V.E.

Vagner Perm Medical University, Perm, Russia

Kanivets I.V.

Research Center for Medical Genetics «Genomed», Moscow, Russia

Akimova I.A.

Research Centre for Medical Genetics, Moscow, Russia

Monak A.A.

Vagner Perm State Medical University, Perm, Russia

Close metadata

References:

  1. Siva A. Common Clinical and Imaging Conditions Misdiagnosed as Multiple Sclerosis: A Current Approach to the Differential Diagnosis of Multiple Sclerosis. Neurol Clin. 2018;36(1):69-117. https://doi.org/10.1016/j.ncl.2017.08.014
  2. Kulesh AA, Drobakha VE, Shestakov VV. Sporadic cerebral non-amyloid microangiopathy: pathogenesis, diagnosis, and features of treatment policy. Neurology, Neuropsychiatry, Psychosomatics. 2018;10(4):13-22. (In Russ.) https://doi.org/10.14412/2074-2711-2018-4-13-22
  3. Pantoni L. Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges. Lancet Neurol. 2010;9(7):689-701. https://doi.org/10.1016/S1474-4422(10)70104-6
  4. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M, Maréchal T, Maciazek J, Vayssière C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature. 1996;383(6602):707-710.
  5. Razvi SS, Davidson R, Bone I, Muir KW. The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry. 2005;76(5):739-741. https://doi.org/10.1136/jnnp.2004.051847
  6. Narayan SK, Gorman G, Kalaria RN, Ford GA, Chinnery PF. The minimum prevalence of CADASIL in northeast England. Neurology. 2012;78(13):1025-1027. https://doi.org/10.1212/WNL.0b013e31824d586c
  7. Moreton FC, Razvi SS, Davidson R, Muir KW. Changing clinical patterns and increasing prevalence in CADASIL. Acta Neurol Scand. 2014;130(3):197-203. https://doi.org/10.1111/ane.12266
  8. Bianchi S, Zicari E, Carluccio A, Donato ID, Pescini F, Nannucci S, Valenti R, Ragno M, Inzitari D, Pantoni L, Federico A, Dotti MT. CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. J Neurol. 2015;262(1):134-141. https://doi.org/10.1007/s00415-014-7533-2
  9. Dong Y, Hassan A, Zhang Z, Huber D, Dalageorgou C, Markus HS. Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis. Stroke. 2003;34(1):203-205.
  10. Yamamoto Y, Craggs L, Baumann M, Kalimo H, Kalaria RN. Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. Neuropathol Appl Neurobiol. 2011;37(1):94-113. https://doi.org/10.1111/j.1365-2990.2010.01147.x
  11. Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti MT, Duering M, Jouvent E, Korczyn AD, Lesnik-Oberstein SA, Malandrini A, Markus HS, Pantoni L, Penco S, Rufa A, Sinanović O, Stojanov D, Federico A. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. BMC Med. 2017;15(1):41. https://doi.org/10.1186/s12916-017-0778-8
  12. Tikka S, Baumann M, Siitonen M, Pasanen P, Pöyhönen M, Myllykangas L, Viitanen M, Fukutake T, Cognat E, Joutel A, Kalimo H. CADASIL and CARASIL. Brain Pathol. 2014;24(5):525-544. https://doi.org/10.1111/bpa.12181
  13. Tan RY, Markus H. CADASIL: migraine, encephalopathy, stroke and their inter-relationships. PLoS One. 2016;11(6):e0157613. https://doi.org/10.1371/journal.pone.0157613
  14. Søndergaard CB, Nielsen JE, Hansen CK, Christensen H. Hereditary cerebral small vessel disease and stroke. Clin Neurol Neurosurg. 2017;155:45-57. https://doi.org/10.1016/j.clineuro.2017.02.015
  15. Eikermann-Haerter K, Yuzawa I, Dilekoz E, Joutel A, Moskowitz MA, Ayata C. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression. Ann Neurol. 2011;69(2):413-418. https://doi.org/10.1002/ana.22281
  16. Liem MK, Oberstein SA, van der Grond J, Ferrari MD, Haan J. CADASIL and migraine: a narrative review. Cephalalgia. 2010;30(11):1284-1289. https://doi.org/10.1177/0333102410370870
  17. Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol. 2009;8(7):643-653. https://doi.org/10.1016/S1474-4422(09)70127-9
  18. Adib-Samii P, Brice G, Martin RJ, Markus HS. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke. 2010;41(4):630-634. https://doi.org/10.1161/STROKEAHA.109.568402
  19. Peters N, Opherk C, Danek A, Ballard C, Herzog J, Dichgans M. The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia. Am J Psychiatry. 2005;162(11):2078-2085. https://doi.org/10.1176/appi.ajp.162.11.2078
  20. Righart R, Duering M, Gonik M, Jouvent E, Reyes S, Hervé D, Chabriat H, Dichgans M. Impact of regional cortical and subcortical changes on processing speed in cerebral small vessel disease. Neuroimage Clin. 2013;2:854-861. https://doi.org/10.1016/j.nicl.2013.06.006
  21. Valenti R, Poggesi A, Pescini F, Inzitari D, Pantoni L. Psychiatric disturbancesin CADASIL: a brief review. Acta Neurol Scand. 2008;118(5):291-295. https://doi.org/10.1111/j.1600-0404.2008.01015.x
  22. Singhal S, Bevan S, Barrick T, Rich P, Markus HS. The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain. 2004;127(9):2031-2038.
  23. Chabriat H, Hervé D, Duering M, Godin O, Jouvent E, Opherk C, Alili N, Reyes S, Jabouley A, Zieren N, Guichard JP, Pachai C, Vicaut E, Dichgans M. Predictors of clinical worsening in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: prospective cohort study. Stroke. 2016;47(1):4-11. https://doi.org/10.1161/STROKEAHA.115.010696
  24. Chabriat H, Levy C, Taillia H, Iba-Zizen MT, Vahedi K, Joutel A, Tournier-Lasserve E, Bousser MG. Patterns of MRI lesions in CADASIL. Neurology. 1998;51(2):452-457.
  25. Auer DP, Pütz B, Gössl C, Elbel G, Gasser T, Dichgans M. Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametrical group comparison. Radiology. 2001;218(2):443-451. https://doi.org/10.1148/radiology.218.2.r01fe24443
  26. O’Sullivan M, Jarosz JM, Martin RJ, Deasy N, Powell JF, Markus HS. MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL. Neurology. 2001;56(5):628-634. https://doi.org/10.1212/WNL.56.5.628
  27. Singhal S, Rich P, Markus HS. 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. 2005;26(10):2481-2487.
  28. De Guio F, Vignaud A, Chabriat H, Jouvent E. Different types of white matter hyperintensities in CADASIL: Insights from 7 Tesla MRI. J Cereb Blood Flow Metab. 2018;38(9):1654-1663. https://doi.org/10.1177/0271678X17690164
  29. Duchesnay E, HadjSelem F, De Guio F, Dubois M, Mangin JF, Duering M, Ropele S, Schmidt R, Dichgans M, Chabriat H, Jouvent E. Different Types of White Matter Hyperintensities in CADASIL. Front Neurol. 2018;9:526. https://doi.org/10.3389/fneur.2018.00526
  30. Lee JS, Ko K, Oh JH, Park JH, Lee HK, Floriolli D, Paganini-Hill A, Fisher M. Cerebral Microbleeds, Hypertension, and Intracerebral Hemorrhage in Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. Front Neurol. 2017;8:203. https://doi.org/10.3389/fneur.2017.00203
  31. Stromillo ML, Dotti MT, Battaglini M, Mortilla M, Bianchi S, Plewnia K, Pantoni L, Inzitari D, Federico A, De Stefano N. Structural and metabolic brain abnormalities in preclinical cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy. J Neurol Neurosurg Psychiat. 2009;80(1):41-47. https://doi.org/10.1136/jnnp.2008.155853
  32. De Guio F, Mangin JF, Duering M, Ropele S, Chabriat H, Jouvent E. White matter edema at the early stage of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Stroke. 2015;46(1):258-261. https://doi.org/10.1161/STROKEAHA.114.007018
  33. Molko N, Pappata S, Mangin JF, Poupon F, LeBihan D, Bousser MG, Chabriat H. Monitoring disease progression in CADASIL with diffusion magnetic resonance imaging: a study with whole brain histogram analysis. Stroke. 2002;33(12):2902-2908.
  34. Gunda B, Porcher R, Duering M, Guichard JP, Mawet J, Jouvent E, Dichgans M, Chabriat H. ADC histograms from routine DWI for longitudinal studies in cerebral small vessel disease: a field study in CADASIL. PLoS One. 2014;9(5):97173. https://doi.org/10.1371/journal.pone.0097173
  35. O’Sullivan M, Singhal S, Charlton R, Markus HS. Diffusion tensor imaging of thalamus correlates with cognition in CADASIL without dementia. Neurology. 2004;62(5):702-707. https://doi.org/10.1212/01.WNL.0000113760.72706.D2
  36. Muiño E, Gallego-Fabrega C, Cullell N, Carrera C, Torres N, Krupinski J, Roquer J, Montaner J, Fernández-Cadenas I. Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL. Int J Mol Sci. 2017;18(9):1964. https://doi.org/10.3390/ijms18091964
  37. Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssière C, Cruaud C, Maciazek J, Weissenbach J, Bousser MG, Bach JF, Tournier-Lasserve E. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet. 1997;350(9090):1511-1515.
  38. Rutten-Jacobs LC, Traylor M, Adib-Samii P, Thijs V, Sudlow C, Rothwell PM, Boncoraglio G, Dichgans M, Bevan S, Meschia J, Levi C, Rost NS, Rosand J, Hassan A, Markus HS. Common NOTCH3 variants and cerebral small-Vessel disease. Stroke. 2015;46(6):1482-1487. https://doi.org/10.1161/STROKEAHA.114.008540
  39. Reyes S, Kurtz A, Hervé D, Tournier-Lasserve E, Chabriat H. Presymptomatic genetic testing in CADASIL. J Neurol. 2012;259(10):2131-2136.
  40. Goldman JS. Genetic testing and counseling in the diagnosis and management of young-onset dementias. Psychiatr Clin North Am. 2015;38(2):295-308. https://doi.org/10.1016/j.psc.2015.01.008
  41. Konialis C, Hagnefelt B, Kokkali G, Pantos C, Pangalos C. Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Prenat Diagn. 2007;27(11):1079-1083. https://doi.org/10.1002/pd.1837
  42. Joutel A, Chabriat H, Vahedi K, Domenga V, Vayssière C, Ruchoux MM, Lucas C, Leys D, Bousser MG, Tournier-Lasserve E. Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL. Neurolog. 2000;54(9):1874-1875. https://doi.org/10.1212/WNL.54.9.1874
  43. Ryzhkova OP, Kardymon OL, Prokhorchuk EB, Konovalov FA, Maslennikov AB, Stepanov VA, Afanasyev AA, Zaklyazminskaya EV, Kostareva AA, Pavlov AE, Golubenko MV, Polyakov AV, Kutsev SI. Rukovodstvo po interpretacii dannyh, poluchennyh metodami massovogo parallel’nogo sekvenirovaniya (MPS). Medicinskaya Genetika. 2017;16(7):4-17. (In Russ.)
  44. Rasseyannyj skleroz: voprosy diagnostiki i lecheniya. Prakticheskoe rukovodstvo dlya vrachej. Pod red. Zaharovoj M.N. M.: Media Mente; 2018. (In Russ.).
  45. Dichgans M, Markus HS, Salloway S, Verkkoniemi A, Moline M, Wang Q, Posner H, Chabriat HS. Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL. Lancet Neurol. 2008;7(4):310-318. https://doi.org/10.1016/S1474-4422(08)70046-2
  46. Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004;127(11):2533-2539. https://doi.org/10.1093/brain/awh282
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