Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Chinese family: clinical, radiological and skin biopsy features

Wilder-Smith, Einar; Shen, Yu‐Chu; Ng, Y.K; Yu, Gang; Tan, Chong Tin; Wong, Moses

doi:10.1016/j.jocn.2003.05.007

Cited by 10 publications

(9 citation statements)

References 21 publications

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“…Some features of CADASIL in these two families, however, differed from published studies. First, the frequency of migraine (13.5%) seems to be low compared to previous European results (30-40%) [42,43], but similar to those in Korea [15][16][17], Japan [20][21][22][23][24][25][26][27], Thailand [29], Singapore [33], Hong Kong [34] and Taiwan [35]. Whether low frequency of migraine is a unique characteristic of Asian CADASIL patients remains unclear.…”

Section: Discussionsupporting

confidence: 69%

“…CADASIL has been widely reported in Europe [2,[6][7][8][9][10][11][12][13][14]. In Asia, CADASIL has been reported in Korea [15][16][17][18], Japan [19][20][21][22][23][24][25][26][27], India [28], Thailand [29], Turkey [30,31], Arab nations [32], Singapore [33], Hong Kong [34] and Taiwan [35,36]. There is limited information published on Mainland Chinese CADASIL patients.…”

Section: Introductionmentioning

confidence: 99%

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Report of two Chinese families and a review of Mainland Chinese CADASIL patients

Yin

Ding

Zhang

et al. 2009

Journal of the Neurological Sciences

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Section: Discussionsupporting

confidence: 69%

Section: Introductionmentioning

confidence: 99%

Report of two Chinese families and a review of Mainland Chinese CADASIL patients

Yin

Ding

Zhang

et al. 2009

Journal of the Neurological Sciences

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“…The gain or loss of a cysteine residue results in an odd number of cysteine residues, which will lead to abnormal accumulations of the Notch3 protein and cause CADASIL through an unknown mechanism (2,22). It remains unclear why CADASIL mutations of NOTCH3 strongly cluster in exons 4 and 3 in Caucasian (1,2,(6)(7)(8) and non-Caucasian families including Japanese (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(23)(24)(25)(26)(27)(28)(29)(30). In Japanese, only one family has previously shown a mutation of exon 5 (11).…”

Section: ( B ) E X O N S 1 T H R O U G H 2 3 C O D E 3 4 E Gfl I K mentioning

confidence: 99%

CADASIL with a Novel Mutation in Exon 7 of NOTCH3 (C388Y)

et al. 2006

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We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3 (1,(4)(5)(6)(7). However, the microscopic examination of GOM is hampered by false-negative results (1,4,5), and NOTCH3 screening outside hotspots of the mutations is a time-and cost-consuming method (2,6). Immunostaining with a NOTCH3 monoclonal antibody has been identified to be a highly sensitive and specific technique for the diagnosis of CADASIL (2). In the present study, we report an asymptomatic patient with CA-DASIL with a novel mutation of NOTCH3, which was first diagnosed by the immunostaining of skin biopsy. Patient and Methods Case report

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“…Till 2009, more than 170 mutations were reported in people of many ethnic origins [ 12 ], and yet new mutations are still being discovered since then, especially in ethnicity not previously reported [ 13 – 16 ]. In Malaysia, only a Chinese family with eight members having typical clinical features and genetic confirmation of CADASIL was described in 2004 [ 17 ], but not in other ethnicity.…”

Section: Introductionmentioning

confidence: 99%

R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL

et al. 2015

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary stroke caused by mutations in NOTCH3 gene. We report the first case of CADASIL in an indigenous Rungus (Kadazan-Dusun) family in Kudat, Sabah, Malaysia confirmed by a R54C (c.160C>T, p.Arg54Cys) mutation in the NOTCH3. This mutation was previously reported in a Caucasian and two Korean cases of CADASIL. We recruited two generations of the affected Rungus family (n = 9) and found a missense mutation (c.160C>T) in exon 2 of NOTCH3 in three siblings. Two of the three siblings had severe white matter abnormalities in their brain MRI (Scheltens score 33 and 50 respectively), one of whom had a young stroke at the age of 38. The remaining sibling, however, did not show any clinical features of CADASIL and had only minimal changes in her brain MRI (Scheltens score 17). This further emphasized the phenotype variability among family members with the same mutation in CADASIL. This is the first reported family with CADASIL in Rungus subtribe of Kadazan-Dusun ethnicity with a known mutation at exon 2 of NOTCH3. The penetrance of this mutation was not complete during the course of this study.

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Chinese family: clinical, radiological and skin biopsy features

Cited by 10 publications

References 21 publications

Report of two Chinese families and a review of Mainland Chinese CADASIL patients

Report of two Chinese families and a review of Mainland Chinese CADASIL patients

CADASIL with a Novel Mutation in Exon 7 of NOTCH3 (C388Y)

R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL

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