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CADASIL: Klinik-Genetik Korelasyon

Yıl 2021, Cilt: 43 Sayı: 4, 411 - 417, 18.05.2021
https://doi.org/10.20515/otd.737592

Öz

CADASIL (Cerebral Autosomal Dominant Arteriopati, Subcortical Infarcts, Leukoencephalopathy) 19. kromozomun kısa kolunda lokalize Notch3 gen mutasyonu sonucu gelişen otozomal dominant geçişli ailesel küçük damar hastalığıdır. Klinik olarak tekrarlayan inme atakları, migren veya migrenöz başağrıları, epileptik nöbetler ve progresif kognitif bozukluk ile karakterizedir. Bu yazıda klinik olarak CADASIL düşündüğümüz, moleküler çalışma ile CADASIL tanısını konfirme ettiğimiz dört olgu klinik ve genetik özellikleri ile sunulmuştur.

Kaynakça

  • Referans1 Ringelstein EB, Nabavi DG. Cerebral small vessel diseases: cerebral microangiopathies. Curr Opin Neurol. 2005;18:179–88.
  • Referans2 Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature. 1996;383:707–10.
  • Referans3 Choi JC. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Genetic Cause of Cerebral Small Vessel Disease. J Clin Neurol. 2010;6:1–9.
  • Referans4 Sourander P, Walinder J. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol. 1977;39:247–54.
  • Referans5 Stevens DL, Hewlett RH, Brownell B. Chronic familial vascular encephalopathy. Lancet.1977;1:1364–5.
  • Referans6 Low WC, Junna M, Borjesson-Hanson A, Morris CM, Moss TH, Stevens DL, et al. Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. Brain. 2007;130:357–67.
  • Referans7 Tournier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM, Chabriat H, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet. 1993;3:256-9.
  • Referans8 Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti M T, Duering M, Jouvent E, Korczyn A D, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)as a model of small vessel disease: update on clinical, diagnostic, and managemet aspects 2017;15:41
  • Referans9 Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995;346:934-9.
  • Referans10 Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger G et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol. 1998;44:731-9.
  • Referans11 Choi EJ, Choi CG, Kim JS. Large cerebral artery involvement in CADASIL. Neurology. 2005;65:1322-4.
  • Referans12 Lee YC, Liu CS, Chang MH, Lin KP, Fuh JL, Lu YC et al. Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. J Neurol. 2009;256:249-55.
  • Referans13 Peters N, Herzog J, Opherk C, Dichgans M. A two-year clinical follow-up study in 80 CADASIL patients: progression patterns and implications for clinical trials. Stroke. 2004;35:1603–8.
  • Referans14 Zhu S, Nahas S J, CADASIL: Imaging Characteristics and Clinical Correlation Curr Pain Headache Rep. 2016;20:57.
  • Referans15 Choi JC, Kang SY, Kang JH, Park JK. Intracerebral hemorrhages in CADASIL. Neurology. 2006;67:2042- 4.
  • Referans16 Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL: a pooled analysis of previously published cases. Stroke. 1999;30:1230-33.
  • Referans17 Buffon F, Porcher R, Hernandez K, Kurtz A, Pointeau S, Vahedi K et al. Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry. 2006;77:175-80.
  • Referans18 Charlton RA, Morris RG, Nitkunan A, Markus HS. The cognitive profiles of CADASIL and sporadic small vessel disease. Neurology. 2006;66:1523-26.
  • Referans19 Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995;346:934-9.
  • Referans20 Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger G et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol. 1998;44:731–9.
  • Referans21 Reyes S, Viswanathan A, Godin O, Dufouil C, Benisty S, Hernandez K, Kurtz A, Jouvent E, O'Sullivan M, Czernecki V, Bousser MG, Dichgans M, Chabriat H. Apathy: a major symptom in CADASIL. Neurology. 2009;72:905-10.
  • Referans22 Zicari E, Tassi R, Stromillo ML, Pellegrini M, Bianchi S, Cevenini G, Gistri M, De Stefano N, Federico A, Dotti MT. Right-to-left shunt in CADASIL patients: prevalence and correlation with clinical and MRI findings. Stroke. 2008;39:2155-7.
  • Referans23 Caplan L R, Lacuner Infarction and Small Vessel Disease: Pathology and Pathophsiology J Stroke. 2015;17:2-6.
  • Referans24 Forteza AM, Brozman B, Rabinstein AA, Romano JG, Bradley WG. Acetazolamide for the treatment of migraine with aura in CADASIL. Neurology. 2001;57:2144-5.

CADASIL: Clinic and Genetic Corelation

Yıl 2021, Cilt: 43 Sayı: 4, 411 - 417, 18.05.2021
https://doi.org/10.20515/otd.737592

Öz

CADASIL (Cerebral Autosomal Dominant Arteriopathy, Subcortical Infarcts, Leukoencephalopathy). It is an autosomal dominant familial small vessel disease caused by the mutation of the Notch3 gene in the short arm of the chromosome 19. Clinically it is characterized by recurrent stroke attacks, migraine or migraineous headaches, epileptic seizures and progressive cognitive impairment. In this article, we report four cases of CADASIL that we have clinically evaluated CADASIL and confirmed the diagnosis by moleculer analyses.

Kaynakça

  • Referans1 Ringelstein EB, Nabavi DG. Cerebral small vessel diseases: cerebral microangiopathies. Curr Opin Neurol. 2005;18:179–88.
  • Referans2 Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature. 1996;383:707–10.
  • Referans3 Choi JC. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Genetic Cause of Cerebral Small Vessel Disease. J Clin Neurol. 2010;6:1–9.
  • Referans4 Sourander P, Walinder J. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. Acta Neuropathol. 1977;39:247–54.
  • Referans5 Stevens DL, Hewlett RH, Brownell B. Chronic familial vascular encephalopathy. Lancet.1977;1:1364–5.
  • Referans6 Low WC, Junna M, Borjesson-Hanson A, Morris CM, Moss TH, Stevens DL, et al. Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. Brain. 2007;130:357–67.
  • Referans7 Tournier-Lasserve E, Joutel A, Melki J, Weissenbach J, Lathrop GM, Chabriat H, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet. 1993;3:256-9.
  • Referans8 Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti M T, Duering M, Jouvent E, Korczyn A D, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)as a model of small vessel disease: update on clinical, diagnostic, and managemet aspects 2017;15:41
  • Referans9 Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995;346:934-9.
  • Referans10 Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger G et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol. 1998;44:731-9.
  • Referans11 Choi EJ, Choi CG, Kim JS. Large cerebral artery involvement in CADASIL. Neurology. 2005;65:1322-4.
  • Referans12 Lee YC, Liu CS, Chang MH, Lin KP, Fuh JL, Lu YC et al. Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. J Neurol. 2009;256:249-55.
  • Referans13 Peters N, Herzog J, Opherk C, Dichgans M. A two-year clinical follow-up study in 80 CADASIL patients: progression patterns and implications for clinical trials. Stroke. 2004;35:1603–8.
  • Referans14 Zhu S, Nahas S J, CADASIL: Imaging Characteristics and Clinical Correlation Curr Pain Headache Rep. 2016;20:57.
  • Referans15 Choi JC, Kang SY, Kang JH, Park JK. Intracerebral hemorrhages in CADASIL. Neurology. 2006;67:2042- 4.
  • Referans16 Desmond DW, Moroney JT, Lynch T, Chan S, Chin SS, Mohr JP. The natural history of CADASIL: a pooled analysis of previously published cases. Stroke. 1999;30:1230-33.
  • Referans17 Buffon F, Porcher R, Hernandez K, Kurtz A, Pointeau S, Vahedi K et al. Cognitive profile in CADASIL. J Neurol Neurosurg Psychiatry. 2006;77:175-80.
  • Referans18 Charlton RA, Morris RG, Nitkunan A, Markus HS. The cognitive profiles of CADASIL and sporadic small vessel disease. Neurology. 2006;66:1523-26.
  • Referans19 Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995;346:934-9.
  • Referans20 Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger G et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol. 1998;44:731–9.
  • Referans21 Reyes S, Viswanathan A, Godin O, Dufouil C, Benisty S, Hernandez K, Kurtz A, Jouvent E, O'Sullivan M, Czernecki V, Bousser MG, Dichgans M, Chabriat H. Apathy: a major symptom in CADASIL. Neurology. 2009;72:905-10.
  • Referans22 Zicari E, Tassi R, Stromillo ML, Pellegrini M, Bianchi S, Cevenini G, Gistri M, De Stefano N, Federico A, Dotti MT. Right-to-left shunt in CADASIL patients: prevalence and correlation with clinical and MRI findings. Stroke. 2008;39:2155-7.
  • Referans23 Caplan L R, Lacuner Infarction and Small Vessel Disease: Pathology and Pathophsiology J Stroke. 2015;17:2-6.
  • Referans24 Forteza AM, Brozman B, Rabinstein AA, Romano JG, Bradley WG. Acetazolamide for the treatment of migraine with aura in CADASIL. Neurology. 2001;57:2144-5.
Toplam 24 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Sağlık Kurumları Yönetimi
Bölüm OLGU SUNUMLARI / CASE REPORTS
Yazarlar

Turgay Demir 0000-0002-7076-8571

Dilek İşcan Bu kişi benim 0000-0002-0773-7780

Filiz Koç 0000-0001-8594-7540

Atıl Bişgin 0000-0002-2053-9076

Yayımlanma Tarihi 18 Mayıs 2021
Yayımlandığı Sayı Yıl 2021 Cilt: 43 Sayı: 4

Kaynak Göster

Vancouver Demir T, İşcan D, Koç F, Bişgin A. CADASIL: Klinik-Genetik Korelasyon. Osmangazi Tıp Dergisi. 2021;43(4):411-7.


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