A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family

被引：0

作者：

Aleksandra M. Pavlovic

V. Dobricic

R. Semnic

V. Lackovic

I. Novakovic

M. Bajcetic

N. Sternic

机构：

[1] University of Belgrade,Neurology Clinic, Faculty of Medicine

[2] University of Novi Sad,Oncology Institute of Vojvodina, Sremska Kamenica, Faculty of Medicine

[3] University of Belgrade,Institute of Histology and Embryology, Faculty of Medicine

来源：

Acta Neurologica Belgica | 2013年 / 113卷

关键词：

CADASIL; Exon 3; Notch3; Stroke; White matter lesions;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults. We present a family from Serbia presenting with stroke and depression in the lack of vascular risk factors, with brain MRI indicating CADASIL. A novel NOTCH3 Gly89Cys mutation was located in exon 3. This report illustrates that in the setting of a positive family history with typical clinical and MRI features, even with an atypical form of pedigree, a high suspicion of CADASIL should lead to genetic testing.

引用

收藏

页码：299 / 302

页数：3

相关论文

共 50 条

[31] CADASIL and Autoimmunity: Coexistence in a Family with the R169C Mutation at Exon 4 of the NOTCH3 Gene [J].

Paraskevas, George P. ;

Bougea, Anastasia ;

Synetou, Margarita ;

Vassilopoulou, Sophia ;

Anagnostou, Evangelos ;

Voumvourakis, Konstantinos ;

Iliopoulos, Alexios ;

Spengos, Konstantinos .

CEREBROVASCULAR DISEASES, 2014, 38 (04) :302-307

[32] Interpretation of NOTCH3 mutations in the diagnosis of CADASIL [J].

Rutten, Julie W. ;

Haan, Joost ;

Terwindt, Gisela M. ;

van Duinen, Sjoerd G. ;

Boon, Elles M. J. ;

Oberstein, Saskia A. J. Lesnik .

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2014, 14 (05) :593-603

[33] A novel mutation (C67Y) in the NOTCH3 gene in a Korean CADASIL patient [J].

Moon, SY ;

Kim, HY ;

Seok, JL ;

Kwon, JC ;

Ki, CS ;

Kim, JW ;

Suh, YL ;

Na, DL .

JOURNAL OF KOREAN MEDICAL SCIENCE, 2003, 18 (01) :141-144

[34] A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not? [J].

V. Schubert ;

B. Bender ;

M. Kinzel ;

N. Peters ;

T. Freilinger .

Journal of Neurology, 2018, 265 :1338-1342

[35] A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not? [J].

Schubert, V. ;

Bender, B. ;

Kinzel, M. ;

Peters, N. ;

Freilinger, T. .

JOURNAL OF NEUROLOGY, 2018, 265 (06) :1338-1342

[36] Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL [J].

Dorszewska, Jolanta ;

Kowalska, Marta ;

Grzegorski, Tomasz ;

Dziewulska, Dorota ;

Karmelita-Katulska, Katarzyna ;

Barciszewska, Anna-Maria ;

Prendeckil, Michal ;

Gorczynski, Wojciech ;

Kozubski, Wojciech .

FOLIA NEUROPATHOLOGICA, 2020, 58 (01) :83-92

[37] Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3 [J].

Hung, Ling Yin ;

Ling, Tsz Ki ;

Lau, Nike Kwai Cheung ;

Cheung, Wing Lan ;

Chong, Yeow Kuan ;

Sheng, Bun ;

Kwok, King Ming ;

Mak, Chloe Miu .

JOURNAL OF CLINICAL NEUROSCIENCE, 2018, 56 :95-+

[38] A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient [J].

Pescini, Francesca ;

Bianchi, Silvia ;

Salvadori, Emilia ;

Poggesi, Anna ;

Dotti, Maria Teresa ;

Federico, Antonio ;

Inzitari, Domenico ;

Pantoni, Leonardo .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2008, 267 (1-2) :170-173

[39] NOTCH3 Mutation Causes Glymphatic Impairment and Promotes Brain Senescence in CADASIL [J].

Li, Chunyi ;

Li, Hui ;

Men, Xuejiao ;

Wang, Yuge ;

Kang, Xinmei ;

Hu, Mengyan ;

Su, Xiaotao ;

Wang, Shisi ;

Lu, Danli ;

Shen, Shishi ;

Huang, Huipeng ;

Deng, Xiaohui ;

Liu, Yuxin ;

Zhang, Lei ;

Cai, Wei ;

Wu, Aimin ;

Lu, Zhengqi .

CNS NEUROSCIENCE & THERAPEUTICS, 2025, 31 (01)

[40] A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene [J].

Ebihara, Yuka ;

Mochizuki, Hitoshi ;

Ishii, Nobuyuki ;

Mizuta, Ikuko ;

Shiomi, Kazutaka ;

Mizuno, Toshiki ;

Nakazato, Masamitsu .

INTERNAL MEDICINE, 2018, 57 (20) :3011-3014

← 1 2 3 4 5 →