Homozygous NOTCH3 c.3373G > A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype–phenotype spectrum

Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P et al (1996) NOTCH3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383(6602):707–710. https://doi.org/10.1038/383707a0

Article  CAS  PubMed  Google Scholar 

Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG (2009) CADASIL Lancet Neurol 8(7):643–653. https://doi.org/10.1016/S1474-4422(09)70127-9

Article  PubMed  Google Scholar 

Chabriat H, Vahedi K, Iba-Zizen MT, Joutel A, Nibbio A, Nagy TG et al (1995) Clinical spectrum of CADASIL: a study of 7 families. Lancet 346(8980):934–939. https://doi.org/10.1016/S0140-6736(95)91598-6

Article  CAS  PubMed  Google Scholar 

Dichgans M, Holtmannspötter M, Herzog J, Peters N, Bergmann M, Yousry TA (2002) Cerebral microbleeds in CADASIL: a gradient-echo MRI and autopsy study. Stroke 33(1):67–71. https://doi.org/10.1161/hs0102.100885

Article  PubMed  Google Scholar 

Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH et al (2002) Diagnostic strategies in CADASIL. Neurology 59(8):1134–1138. https://doi.org/10.1212/WNL.59.8.1134

Article  CAS  PubMed  Google Scholar 

Wollenweber FA, Hanecker P, Bayer-Karpinska A, Malik R, Bäzner H, Moreton F et al (2015) Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro. Stroke 46(3):786–792. https://doi.org/10.1161/STROKEAHA.114.007472

Article  CAS  PubMed  Google Scholar 

Opherk C, Peters N, Holtmannspötter M, Gschwendtner A, Müller-Myhsok B, Dichgans M (2004) CADASIL mutations and clinical phenotype: evidence for genotype-phenotype correlation from 200 families. Neurology 62(4):640–643. https://doi.org/10.1212/01.WNL.0000113762.14459.E8

Article  Google Scholar 

He R, Wu Y, Zhang Y, Zhao X, Li H, Wang Z et al (2020) Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report. BMC Neurol 20:72. https://doi.org/10.1186/s12883-020-01656-1

Article  PubMed  PubMed Central  Google Scholar 

Gong Z, Wang W, Zhao Y, Wang Y, Sun R, Zhang H et al (2024) Analysis of the pathogenicity and pathological characteristics of NOTCH3 cysteine-sparing mutations in vitro and in vivo models. Front Mol Neurosci 17:1391040. https://doi.org/10.3389/fnmol.2024.1391040

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cao Y, Zhang DD, Han F et al (2024) Phenotypes associated with NOTCH3 cysteine-sparing mutations: a systematic review. Int J Mol Sci 25(16):8796. https://doi.org/10.3390/ijms25168796

Article  CAS  PubMed  PubMed Central  Google Scholar 

Iruzubieta P, de la Fuente JL, Rodríguez-Antigüedad A et al (2024) Clinical and neuroradiological spectrum of biallelic variants in NOTCH3. EBioMedicine 107:105297. https://doi.org/10.1016/j.ebiom.2024.105297

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abou Al-Shaar H, Qadi N, Al-Hamed MH, Meyer BF, Bohlega S (2016) Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family. J Neurol Sci 367:239–243. https://doi.org/10.1016/j.jns.2016.05.061

Article  CAS  PubMed  Google Scholar 

Money KM, Cronin J, Guimaraes-Young A, Carlson A, Lovell MA, Matthews E et al (2023) CADASIL progression after neurologic infectious insults: case report of a new pathogenic NOTCH3 mutation. Neuroimmunol Rep 4:100186. https://doi.org/10.1016/j.nerep.2023.100186

Article  CAS  Google Scholar 

Moreton FC, Cullen B, Dickie DA et al (2021) Brain imaging factors associated with progression of subcortical hyperintensities in CADASIL over 2-year follow-up. Eur J Neurol 28(1):220–228. https://doi.org/10.1111/ene.14534

Article  CAS  PubMed  Google Scholar 

Hack RJ, Cerfontaine MN, Gravesteijn G et al (2022) Effect of NOTCH3 EGFr group, sex, and cardiovascular risk factors on CADASIL outcomes. Stroke 53(10):3133–3144. https://doi.org/10.1161/STROKEAHA.122.039325

Article  CAS  PubMed  PubMed Central  Google Scholar 

Silva AR, Santos I, Fernandes C et al (2023) Socio-emotional deficits in cerebral small vessel disease: comparison of sporadic CSVD and CADASIL. Cereb Circ Cogn Behav 5:100186. https://doi.org/10.1016/j.cccb.2023.100186

Article  CAS  PubMed  PubMed Central  Google Scholar 

Anisetti B, Greco E, Stojadinovic E et al (2023) Novel grading system for CADASIL severity: a multicenter cross-sectional study. Cereb Circ Cogn Behav 5:100170. https://doi.org/10.1016/j.cccb.2023.100170

Article  PubMed  PubMed Central  Google Scholar 

Bersano A, Bedini G, Markus HS et al (2018) Clinical and neuroimaging features in CADASIL diagnosis. J Neurol 265(12):2934–2943. https://doi.org/10.1007/s00415-018-9072-8

Article  PubMed  Google Scholar 

Ferrante E, Trimboli M, Erminio C et al (2022) Acute confusional migraine in CADASIL: case report and review. Clin Neurol Neurosurg 216:107239. https://doi.org/10.1016/j.clineuro.2022.107239

Article  PubMed  Google Scholar 

Furman JM, Marcus DA, Balaban CD (2013) Vestibular migraine: clinical aspects and pathophysiology. Lancet Neurol 12(7):706–715. https://doi.org/10.1016/S1474-4422(13)70107-8

Article  CAS  PubMed  Google Scholar 

Gailani G, Robertson NP (2022) Clinical patterns in CADASIL. J Neurol 269(8):4575–4577. https://doi.org/10.1007/s00415-022-11261-1

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sundal C, Ekholm S, Andersen O (2010) White matter disorders with autosomal dominant heredity: case studies. Acta Neurol Scand 121(5):328–337. https://doi.org/10.1111/j.1600-0404.2009.01219.x

Article  CAS  PubMed  Google Scholar 

Zhu S, Nahas SJ (2016) CADASIL: imaging characteristics and clinical correlation. Curr Pain Headache Rep 20(10):57. https://doi.org/10.1007/s11916-016-0584-6

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the ACMG and AMP. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Alkuraya FS (2013) Impact of new genomic tools in consanguineous populations. Clin Genet 84(3):203–208. https://doi.org/10.1111/cge.12131

Article  CAS  PubMed  Google Scholar 

Meschia JF, Bushnell C, Boden-Albala B, Braun LT, Bravata DM, Chaturvedi S et al (2014) Guidelines for the primary prevention of stroke. Stroke 45(12):3754–3832. https://doi.org/10.1161/STR.0000000000000046

Article  PubMed  PubMed Central  Google Scholar 

Dichgans M, Mayer M, Uttner I, Brüning R, Müller-Höcker J, Rungger G et al (1998) The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 44(5):731–739. https://doi.org/10.1002/ana.410440506

Article  CAS  PubMed  Google Scholar 

Comments (0)

No login
gif