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CADASIL Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

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Human iPS cell-derived mural cells as an in vitro model of hereditary cerebral small vessel disease.

Yumi Yamamoto, Katsutoshi Kojima, Daisuke Taura, Masakatsu Sone, Kazuo Washida, Naohiro Egawa, Takayuki Kondo, Eiko N Minakawa, Kayoko Tsukita, Takako Enami, Hidekazu Tomimoto, Toshiki Mizuno, Raj N Kalaria, Nobuya Inagaki, Ryosuke Takahashi, Mariko Harada-Shiba, Masafumi Ihara, Haruhisa Inoue,

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most common forms of hereditary cerebral small vessel diseases and is caused by mutations in NOTCH3. Our group has previously reported incorporation of NOTCH3 extracellular domain (N3ECD) in the CADASIL-specific granular osmiophilic materials and increase of ... Read more >>

Mol Brain (Molecular brain)
[2020, 13(1):38]

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Plasma neurofilament light chain and glial fibrillary acidic protein predict stroke in CADASIL

Sung-Chun Tang, Chih-Hao Chen, Yu-Wen Cheng, Ya-Fang Chen, Jiann-Shing Jeng,

<title>Abstract</title> <p> Background Stroke remains the most cumbersome disease burden in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This study aimed to investigate whether plasma biomarkers can reflect disease severity and predict stroke recurrence in CADASIL patients. Methods Sixty-three CADASIL ... Read more >>

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Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.

M Mancuso, M Arnold, A Bersano, A Burlina, H Chabriat, S Debette, C Enzinger, A Federico, A Filla, J Finsterer, D Hunt, S Lesnik Oberstein, E Tournier-Lasserve, H S Markus,

BACKGROUND AND PURPOSE:Guidelines on monogenic cerebral small-vessel disease (cSVD) diagnosis and management are lacking. Endorsed by the Stroke and Neurogenetics Panels of the European Academy of Neurology, a group of experts has provided recommendations on selected monogenic cSVDs, i.e. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral ... Read more >>

Eur. J. Neurol. (European journal of neurology)
[2020, :]

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Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.

Ruojie He, Huan Li, Yiming Sun, Menglong Chen, Liang Wang, Yuling Zhu, Cheng Zhang,

BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in NOTCH3 gene with remarkable phenotypic heterogeneity. Cases of CADASIL associated with homozygous NOTCH3 mutations are rare and subsequently understudied. In this study, we investigate the genetic and phenotypic features within ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):72]

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Notch3 in Development, Health and Disease.

Samira Hosseini-Alghaderi, Martin Baron,

Notch3 is one of four mammalian Notch proteins, which act as signalling receptors to control cell fate in many developmental and adult tissue contexts. Notch signalling continues to be important in the adult organism for tissue maintenance and renewal and mis-regulation of Notch is involved in many diseases. Genetic studies ... Read more >>

Biomolecules (Biomolecules)
[2020, 10(3):]

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CADASIL as Multiple Sclerosis Mimic: A 48-year-old man with severe leukoencephalopathy and spinal cord involvement.

Francesco Motolese, Mariagrazia Rossi, Emma Gangemi, Anna Bersano, Emma Scelzo, Vincenzo Di Lazzaro, Fioravante Capone,

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a common cause of inherited stroke in young adults. CADASIL causes extensive white matter T2 hyperintensities at brain MRI, in particular involving anterior-temporal lobes and external capsules; usually, there is no spinal cord involvement. Since CADASIL clinical spectrum is ... Read more >>

Mult Scler Relat Disord (Multiple sclerosis and related disorders)
[2020, 41:102014]

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Multiple Border-Zone Infarcts Triggered by Influenza A Virus Infection in a Patient With Cerebral Autosomal Dominant Arteriopathy Presenting With Subcortical Infarcts and Leukoencephalopathy.

Keisuke Mizutani, Keita Sakurai, Ikuko Mizuta, Toshiki Mizuno, Hiroyuki Yuasa,

Patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can develop multiple border-zone infarcts due to hypotension, hypovolemia, or surgery. We report the case of a 41-year-old woman with CADASIL who developed multiple border-zone infarcts due to influenza A virus infection. The patient had no apparent history ... Read more >>

J Stroke Cerebrovasc Dis (Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association)
[2020, :104701]

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A Patient with Combined CADASIL and MTHFR Homozygosity.

Sidonie Ibrikji, Tarek El Halabi, Bassem Yamout,

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited disorder caused by a mutation in the NOTCH 3 gene, characterized by early onset of subcortical lacunar infarcts in the absence of vascular risk factors and cerebral microbleeds. Homozygosity for the factor Methylenetetrahydrofolate Reductase (MTHFR) is also ... Read more >>

Case Rep Neurol Med (Case reports in neurological medicine)
[2020, 2020:4980847]

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Thiol-mediated and catecholamine-enhanced multimerization of a cerebrovascular disease enriched fragment of NOTCH3.

Kelly Z Young, Naw May P Cartee, Magdalena I Ivanova, Michael M Wang,

Cerebral small vessel disease is a common condition linked to dementia and stroke. As an age-dependent brain pathology, cerebral SVD may share molecular processes with core neurodegenerative diseases such as Alzheimer's and Parkinson's disease. Many neurodegenerative diseases feature abnormal protein accumulation and aberrant protein folding, resulting in multimerization of specific ... Read more >>

Exp. Neurol. (Experimental neurology)
[2020, 328:113261]

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Headache intensity is associated with increased white matter lesion burden in CADASIL patients.

Miguel Tábuas-Pereira, Ricardo Varela, José Beato-Coelho, Diogo Maleita, Carlos Ferreira, Otília C d'Almeida, César Nunes, Isabel Luzeiro, Gustavo C Santo,

OBJECTIVES:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cause of vascular dementia in adults. Migraine is a major symptom of the disease. We aimed to identify clinical and demographical features of the headache associated with increased cerebral lesion burden in a cohort of ... Read more >>

J Clin Neurosci (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia)
[2020, 73:179-182]

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Phenotypic characterization of CADASIL patients with the Arg332Cys mutation in the NOTCH3.

Chen-Si Li, Tian-Wei Wang, Jie Wang, Shuai-Hong Li, Na Li, Xiao-Shuang Wang, Le Fang,

Background:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary vascular disease caused by mutations in NOTCH3, that are primarily localized in exons 4, 3, and 11. The Arg332Cys mutation in exon 6 has been rarely reported in patients with CADASIL. Methods:A case study and the results ... Read more >>

Ann Transl Med (Annals of translational medicine)
[2020, 8(1):10]

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Investigating diagnostic sequencing techniques for CADASIL diagnosis.

P J Dunn, N Maksemous, R A Smith, H G Sutherland, L M Haupt, L R Griffiths,

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Our laboratory has been undertaking genetic diagnostic testing for CADASIL since 1997. Work originally utilised Sanger sequencing methods targeting specific NOTCH3 exons. More recently, next-generation sequencing (NGS)-based ... Read more >>

Hum. Genomics (Human genomics)
[2020, 14(1):2]

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Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.

Gido Gravesteijn, Johannes G Dauwerse, Maurice Overzier, Gwendolyn Brouwer, Ingrid Hegeman, Aat A Mulder, Frank Baas, Mark C Kruit, Gisela M Terwindt, Sjoerd G van Duinen, Carolina R Jost, Annemieke Aartsma-Rus, Saskia A J Lesnik Oberstein, Julie W Rutten,

CADASIL is a vascular protein aggregation disorder caused by cysteine altering NOTCH3 variants, leading to mid-adult onset stroke and dementia. Here, we report individuals with a cysteine altering NOTCH3 variant that induces exon 9 skipping, mimicking therapeutic NOTCH3 cysteine correction. The index came to our attention after a coincidental finding ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, :]

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ER stress and Rho kinase activation underlie the vasculopathy of CADASIL.

Karla B Neves, Adam P Harvey, Fiona Moreton, Augusto C Montezano, Francisco J Rios, Rhéure Alves-Lopes, Aurelie Nguyen Dinh Cat, Paul Rocchicciolli, Christian Delles, Anne Joutel, Keith Muir, Rhian M Touyz,

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) leads to premature stroke and vascular dementia. Mechanism-specific therapies for this aggressive cerebral small vessel disease are lacking. CADASIL is caused by NOTCH3 mutations that influence vascular smooth muscle cell (VSMC) function through unknown processes. We investigated molecular mechanisms underlying ... Read more >>

JCI Insight (JCI insight)
[2019, 4(23):]

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NOTCH3 is non-enzymatically fragmented in inherited cerebral small-vessel disease.

Kelly Z Young, Soo Jung Lee, Xiaojie Zhang, Naw May Pearl Cartee, Mauricio Torres, Simon G Keep, Sairisheel R Gabbireddy, Julia L Fontana, Ling Qi, Michael M Wang,

The small-vessel disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) arises from mutations in the human gene encoding NOTCH3 and results in vascular smooth muscle cell degeneration, stroke, and dementia. However, the structural changes in NOTCH3 involved in CADASIL etiology are unclear. Here, we discovered site-specific fragmentation ... Read more >>

J. Biol. Chem. (The Journal of biological chemistry)
[2020, 295(7):1960-1972]

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CADASIL presenting as late-onset mania with anosognosia.

Manik Uppal, Dora Kanellopoulos, Nabil Kotbi,

The diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) should be considered in patients with late-onset personality change and mania. However, neuropsychological deficits precipitated by the disorder pose significant challenges to recognition and appropriate management of CADASIL in susceptible patients. ... Read more >>

Clin Case Rep (Clinical case reports)
[2020, 8(1):47-50]

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NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family.

Andrés Gallardo, Verónica Latapiat, Alejandra Rivera, Beatriz Fonseca, Andrés Roldan, Patricio Sandoval, Carolina Sánchez, José Manuel Matamala,

INTRODUCTION:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary stroke disorder caused by mutations in the NOTCH3 gene. We report the first Chilean CADASIL family with complete radiological and histological studies. METHODS:The family tree was constructed from an autopsy-confirmed confirmed patient, and includes 3 generations. ... Read more >>

J Stroke Cerebrovasc Dis (Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association)
[2020, 29(2):104530]

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CADASIL syndrome and stroke in young people.

S P K Reddy, V Y Vishnu, V Goyal, M B Singh, S Arora, A Garg, M V P Srivastava,

QJM (QJM : monthly journal of the Association of Physicians)
[2020, 113(2):118-119]

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Blood brain barrier leakage is not a consistent feature of white matter lesions in CADASIL.

Rikesh M Rajani, Julien Ratelade, Valérie Domenga-Denier, Yoshiki Hase, Hannu Kalimo, Raj N Kalaria, Anne Joutel,

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic paradigm of small vessel disease (SVD) caused by NOTCH3 mutations that stereotypically lead to the vascular accumulation of NOTCH3 around smooth muscle cells and pericytes. White matter (WM) lesions (WMLs) are the earliest and most frequent abnormalities, ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2019, 7(1):187]

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Reduced resting-state brain functional network connectivity and poor regional homogeneity in patients with CADASIL.

Jingjing Su, Shiyu Ban, Mengxing Wang, Fengchun Hua, Liang Wang, Xin Cheng, Yuping Tang, Houguang Zhou, Yu Zhai, Xiaoxia Du, Jianren Liu,

BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifests principally as a suite of cognitive impairments, particularly in the executive domain. Executive functioning requires the dynamic coordination of neural activity over large-scale networks. It remains unclear whether changes in resting-state brain functional network connectivity and regional homogeneities (ReHos) ... Read more >>

J Headache Pain (The journal of headache and pain)
[2019, 20(1):103]

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NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population.

Yi-Chung Lee, Chih-Ping Chung, Ming-Hong Chang, Shuu-Jiun Wang, Yi-Chu Liao,

OBJECTIVE:To test the hypothesis that the prevalence and clinical effect of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) have been underestimated in Asian populations. METHODS:The Taiwan Biobank, containing 1,517 Taiwanese genome sequences, was queried for pathogenic NOTCH3 cysteine-altering mutations. NOTCH3 mutations identified in the reference population were ... Read more >>

Neurology (Neurology)
[2020, 94(1):e87-e96]

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Notch Pathway and Inherited Diseases: Challenge and Promise.

Jörg Reichrath, Sandra Reichrath,

The evolutionary highly conserved Notch pathway governs many cellular core processes including cell fate decisions. Although it is characterized by a simple molecular design, Notch signaling, which first developed in metazoans, represents one of the most important pathways that govern embryonic development. Consequently, a broad variety of independent inherited diseases ... Read more >>

Adv. Exp. Med. Biol. (Advances in experimental medicine and biology)
[2020, 1218:159-187]

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A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family.

Liyan Huang, Wei Li, Yi Li, Chaoyuan Song, Pin Wang, Hongchun Wang, Xiulian Sun,

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic disease leading to stroke and vascular dementia. CADASIL is an inherited small blood vessel disease caused by mutations in the gene encoding the neurogenic locus notch homolog protein 3 (NOTCH3). NOTCH3 is large type I ... Read more >>

Neurogenetics (Neurogenetics)
[2020, 21(1):39-49]

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Proteostasis in Cerebral Small Vessel Disease.

Christof Haffner,

Maintaining the homeostasis of proteins (proteostasis) by controlling their synthesis, folding and degradation is a central task of cells and tissues. The gradual decline of the capacity of the various proteostasis machineries, frequently in combination with their overload through mutated, aggregation-prone proteins, is increasingly recognized as an important catalyst of ... Read more >>

Front Neurosci (Frontiers in neuroscience)
[2019, 13:1142]

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Global Assessment of Mendelian Stroke Genetic Prevalence in 101 635 Individuals From 7 Ethnic Groups.

Nickrooz Grami, Michael Chong, Ricky Lali, Pedrum Mohammadi-Shemirani, David E Henshall, Kristiina Rannikmäe, Guillaume Paré,

Background and Purpose- Mendelian stroke confers a high lifetime risk for mutation carriers; however, ethnicity-specific prevalence estimates have been difficult to establish. Methods- Eighteen genes responsible for Mendelian stroke were investigated using the Genome Aggregation Database. Genome Aggregation Database participants belonged to 1 of 7 populations: African/African-American, Latino/Admixed American, Ashkenazi ... Read more >>

Stroke (Stroke)
[2020, 51(4):1290-1293]

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