Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China

References

• Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996;383:707–10.
   PubMed Web of Science ®Google Scholar
• Desmond DW, Moroney JT, Lynch T, et al. The natural history of CADASIL: A pooled analysis of previously published cases. Stroke 1999;30:1230–3.
   PubMed Web of Science ®Google Scholar
• Dichgans M, Mayer M, Uttner I, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol 1998;44:731–9.
   PubMed Web of Science ®Google Scholar
• Chabriat H, Levy C, Taillia H, et al. Patterns of MRI lesions in CADASIL. Neurology 1998;51:452–7.
   PubMed Web of Science ®Google Scholar
• Markus HS, Martin RJ, Simpson MA, et al. Diagnostic strategies in CADASIL. Neurology 2002;59:1134–8.
   PubMed Web of Science ®Google Scholar
• Malandrini A, Gaudiano C, Gambelli S, et al. Diagnostic value of ultrastructural skin biopsy studies in CADASIL. Neurology 2007;68:1430–2.
   PubMed Web of Science ®Google Scholar
• Tikka S, Mykkänen K, Ruchoux MM, et al. Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients. Brain 2009;132:933–9.
   PubMed Web of Science ®Google Scholar
• Pantoni L, Pescini F, Nannucci S, et al. Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. Neurology 2010;74:57–63.
   PubMed Web of Science ®Google Scholar
• Chabriat H, Joutel A, Dichgans M, et al. CADASIL, Lancet Neurol 2009;8:643–53.
   PubMed Web of Science ®Google Scholar
• Mosca L, Marazzi R, Ciccone A, et al. NOTCH3 gene mutations in subjects clinically suspected of CADASIL. J Neurol Sci 2011;307:144–8.
   PubMed Web of Science ®Google Scholar
• Santa Y, Uyama E, Chui DH, et al. Genetic, clinical and pathological studies of CADASIL in Japan:a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis. J Neurol Sci 2003;212:79–84.
   PubMed Web of Science ®Google Scholar
• Choi JC, Song SK, Lee JS, et al. Diversity of Stroke Presentation in CADASIL: Study from patients harboring the predominant NOTCH3 Mutation R544C. J Stroke Cerebrovasc Dis 2013;22:126–31.
   PubMed Web of Science ®Google Scholar
• Kim YE, Yoon CW, Seo SW, et al. Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Neurobiol Aging 2014;35:726.e1–e6.
   Google Scholar
• Lee YC, Liu CS, Chang MH,et al. Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. J Neurol 2009;256:249–55.
   PubMed Web of Science ®Google Scholar
• Wang Z, Yuan Y, Zhang W, et al. NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL. J Neurol Neurosurg Psychiatry 2011;82:534–9.
   PubMed Web of Science ®Google Scholar
• Choi EJ, Choi CG, Kim JS. Large cerebral artery involvement in CADASIL. Neurology 2005;65:1322–4.
   PubMed Web of Science ®Google Scholar
• Choi JC, Lee KH, Song SK, et al. Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke. J Stroke Cerebrovasc Dis 2013;22:608–14.
   PubMed Web of Science ®Google Scholar
• Joutel A, Vahedi K, Corpechot C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 1997;350:1511–55.
   PubMed Web of Science ®Google Scholar
• Pantoni L, Basile AM, Pracucci G, et al. Impact of age-related cerebral white matter changes on the transition to disability: the LADIS study: rationale, design and methodology. Neuroepidemiology 2005;24:51–62.
   PubMed Web of Science ®Google Scholar
• Gouw AA, van der Flier WM, Pantoni L, et al. On the etiology of incident brain lacunes: longitudinal observations from the LADIS study. Stroke 2008;39:3083–5.
   PubMed Web of Science ®Google Scholar
• Samuels OB, Joseph GJ, Lynn MJ, et al. A standardized method for measuring intracranial arterial stenosis. AJNR Am J Neuroradiol 2000;21:643–6.
   PubMed Web of Science ®Google Scholar
• Yin XZ, Ding MP, Zhang BR, et al. Report of two Chinese families and a review of Mainland Chinese CADASIL patients. J Neurol Sci 2009;279:88–92.
   PubMed Web of Science ®Google Scholar
• Peters N, Opherk C, Bergmann T, et al. Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. Arch Neurol 2005;62:1091–4.
   PubMed Web of Science ®Google Scholar
• Oberstein SA, Ferrari MD, Bakker E, et al. Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. Neurology 1999;52:1913–5.
   PubMed Web of Science ®Google Scholar
• Lee YC, Yang AH, Liu HC, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese. J Neurol Sci 2006;246:111–5.
   PubMed Web of Science ®Google Scholar
• Rutten JW, Haan J, Terwindt GM, et al. Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. Expert Rev Mol Diagn 2014;14:593–603..
   PubMed Web of Science ®Google Scholar
• Moon SY, Kim HY, Seok JI, et al. A novel mutation (C67Y) in the NOTCH3 gene in a Korean CADASIL patient. J Korean Med Sci 2003;18:141–4.
   PubMed Web of Science ®Google Scholar
• Abe K, Murakami T, Matsubara E, et al. Clinical Features of CADASIL. Ann N Y Acad Sci 2002;977:266–72.
   PubMed Web of Science ®Google Scholar
• Uchino M. [CADASIL] (In Japanese). Brain Nerve 2008;60:1224–34.
   PubMedGoogle Scholar
• Matsumoto H, Tsumoto M, Yamamoto T, et al. [A case of early stage CADASIL showing only dizziness and vertigo with a novel mutation of Notch3 gene] (In Japanese). Rinsho Shinkeigaku 2005;45:27–31.
   PubMedGoogle Scholar
• Rubio A, Rifkin D, Powers JM, et al. Phenotypic variability of CADASIL and novel morphologic findings. Acta Neuropathol (Berl) 1997;94:247–54.
   PubMed Web of Science ®Google Scholar
• Rufa A, De Stefano N, Dotti MT, et al. Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Arch Neurol 2004;61:577–80.
   PubMed Web of Science ®Google Scholar