Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014

Chabriat H, Joutel A, Dichgans M et al (2009) CADASIL. Lancet Neurol 8:643–653

Joutel A, Corpechot C, Ducros A et al (1996) Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383:707–710

Joutel A, Andreux F, Gaulis S et al (2000) The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest 105:597–605

Tikka S, Baumann M, Siitonen M et al (2014) CADASIL and CARASIL. Brain Pathol 24:525–544

Pescini F, Nannucci S, Bertaccini B et al (2012) The cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) scale: a screening tool to select patients for NOTCH3 gene analysis. Stroke 43:2871–2876

Opherk C, Peters N, Herzog J et al (2004) Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain 127:2533–2539

Kim YE, Yoon CW, Seo SW et al (2014) Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Neurobiol Aging 35:726.e1–726.e6

Lee YC, Liu CS, Chang MH et al (2009) Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. J Neurol 256:249–255

Uyama E, Tokunaga M, Suenaga A et al (2000) Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL. Intern Med 39:732–737

Uchino M, Hirano T, Uyama E et al (2002) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan. Ann N Y Acad Sci 977:273–278

Abe K, Murakami T, Matsubara E et al (2002) Clinical Features of CADASIL. Ann N Y Acad Sci 977:266–272

Ishida C, Sakajiri K, Yoshita M et al (2006) CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y). Intern Med 45:981–985

Mizuno T, Muranishi M, Torugun T et al (2008) Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue. Intern Med 47:2067–2072

Headache Classification Committee of the International Headache Society (IHS) (2013) The International Classification of Headache Disorders, 3rd edition (beta version). Cephalalgia 33:629–808

Pantoni L, Pescini F, Nannucci S et al (2010) Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. Neurology 74:57–63

Fazekas F, Chawluk JB, Alavi A et al (1987) MR signal abnormalities at 1.5 T in Alzheimer’s dementia and normal aging. Am J Neuroradiol 8:421–426

Scheltens P, Barkhof F, Valk J et al (1992) White matter lesions on magnetic resonance imaging in clinically diagnosed Alzheimer’s disease. Evidence for heterogeneity. Brain 115:735–748

Stenson PD, Mort M, Ball EV et al (2014) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133:1–9

Ueda A, Hirano T, Takahashi K et al (2009) Detection of granular osmiophilic material of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by light microscopy in frozen sections. Neuropathol Appl Neurobiol 35:618–622

Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249

Tavtigian SV, Deffenbaugh AM, Yin L et al (2006) Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 43:295–305

Peters N, Opherk C, Bergmann T et al (2005) Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. Arch Neurol 62:1091–1094

Tikka S, Mykkänen K, Ruchoux MM et al (2009) Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. Brain 132:933–939

Mykkänen K, Savontaus ML, Juvonen V et al (2004) Detection of the founder effect in Finnish CADASIL families. Eur J Hum Genet 12:813–819

Kim Y, Choi EJ, Choi CG et al (2006) Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation. Neurology 66:1511–1516

Scheid R, Heinritz W, Leyhe T et al (2008) Cysteine-sparing NOTCH3 mutations: CADASIL or CADASIL variants? Neurology 71:774–776

Bersano A, Ranieri M, Ciammola A et al (2012) Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant. Funct Neurol 27:247–252

Ge W, Kuang H, Wei B et al (2014) A novel cysteine-sparing NOTCH3 mutation in a Chinese family with CADASIL. PLoS One 9:e104533

Brass SD, Smith EE, Arboleda-Velasquez JF et al (2009) Case records of the Massachusetts General Hospital. Case 12-2009. A 46-year-old man with migraine, aphasia, and hemiparesis and similarly affected family members. N Engl J Med 360:1656–1665

Joutel A, Favrole P, Labauge P et al (2001) Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet 358:2049–2051

Lesnik Oberstein SA, van Duinen SG, van den Boom R et al (2003) Evaluation of diagnostic NOTCH3 immunostaining in CADASIL. Acta Neuropathol 106:107–111

Malandrini A, Gaudiano C, Gambelli S et al (2007) Diagnostic value of ultrastructural skin biopsy studies in CADASIL. Neurology 68:1430–1432

Markus HS, Martin RJ, Simpson MA et al (2002) Diagnostic strategies in CADASIL. Neurology 59:1134–1138