Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Tang, Sung‐Chun; Lee, Ming-Jen; Jeng, Jiann‐Shing; Yip, Ping-Keung

doi:10.1016/j.jns.2004.10.019

Cited by 17 publications

(18 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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

View full text Add to dashboard Cite

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

show abstract

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

View full text Add to dashboard Cite

show abstract

“…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%

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

Yin

Ding

Zhang

et al. 2009

Journal of the Neurological Sciences

View full text Add to dashboard Cite

“…CADASIL patients harboring the p.Arg332Cys mutation of NOTCH3 were initially reported in Italian populations (10), followed by British (7), Dutch (11), German (12), and Taiwanese (13,14) families. Although only one Japanese language review reported this mutation with CADASIL in Japan (24), the clinical information of the pa- tients in that study was not described.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, this is the first paper presenting the detailed phenotypes of the patients harboring this rare mutation in Japan. Detailed clinical presentations of cases with the p.Arg332Cys CADASIL mutation could be obtained from only Italian and Taiwanese families (10,13,14). All of the affected individuals of these families presented recurrent ischemic episodes (10,13,14), thus representing the most frequent presentation with CA-DASIL (3).…”

Section: Discussionmentioning

confidence: 99%

p.Arg332Cys Mutation of NOTCH3 Gene in Two Unrelated Japanese Families with CADASIL

et al. 2011

View full text Add to dashboard Cite

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is a cerebrovasuclar disease caused by NOTCH3 mutations, usually localized to exons 3 and 4. This report describes the clinical and neuroradiological findings of 2 subjects of two unrelated Japanese families who shared a common p.Arg332Cys mutation. The subject from family A presented syncope attacks as the sole clinical presentation at the beginning of his disease course. The subject from family B showed recurrent ischemic attacks, followed by a large intracranial hemorrhage. This is the first report to describe the detailed phenotypes of patients with a rare p.Arg332Cys mutation in Japan.

show abstract

Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Cited by 17 publications

References 18 publications

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

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

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

p.Arg332Cys Mutation of NOTCH3 Gene in Two Unrelated Japanese Families with CADASIL

Contact Info

Product

Resources

About