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Last update 08 May 2025

Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts and Leukoencephalopaty (CADASIL)

Last update 08 May 2025

Basic Info

Synonyms

Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts and Leukoencephalopaty (CADASIL), 伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）, 常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病

Introduction-

Drugs associated with Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts and Leukoencephalopaty (CADASIL)

HOV-12020

Target-

Mechanism-

Active Org.-

Originator Org.

Hovid Bhd.

Active Indication-

Inactive Indication

Cadasil [+1]

Drug Highest PhasePending

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts and Leukoencephalopaty (CADASIL)

ChiCTR2500101157

/ SuspendedNot ApplicableIIT

Remote Ischemic Conditioning for the treatment of cerebral autosomal dominant arteriopathy with sub-cortical infarct and leukoencephalopathy:A double-blind, prospective, sham-controlled, blinded endpoint,randomized clinical trial

Start Date01 May 2025

Sponsor / Collaborator-

DRKS00034054

/ RecruitingNot ApplicableIIT

Genetic Small Vessel Diseases (SVDs) Registry - GenSVDs-Registry

Start Date10 Apr 2024

Sponsor / Collaborator-

JPRN-jRCTs051220072

/ Not yet recruitingNot Applicable

Effect of Lomerizine Hydrochloride on Preventing Recurrence of Cerebral Ischemic Events in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy - LOMCAD

Start Date28 Nov 2022

Sponsor / Collaborator-

100 Clinical Results associated with Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts and Leukoencephalopaty (CADASIL)

100 Translational Medicine associated with Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts and Leukoencephalopaty (CADASIL)

0 Patents (Medical) associated with Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts and Leukoencephalopaty (CADASIL)

1,005

Literatures (Medical) associated with Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts and Leukoencephalopaty (CADASIL)

01 May 2025·Journal of the Neurological Sciences

Peripapillary vessel wall changes correlate with disease severity in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Article

Author: Chi, Sheng-Chu ; Chang, Hsin-Ho ; Lee, Yi-Chung ; Liao, Yi-Chu ; Cheng, Hui-Chen ; Wang, An-Guor

INTRODUCTIONCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by NOTCH3 mutations. This study explores retinal vascular changes and their associations with neuroimaging biomarkers in preclinical carriers and symptomatic CADASIL patients METHOD: This prospective case-control study enrolled six preclinical NOTCH3 mutations carriers, 21 symptomatic CADASIL patients and 17 controls. Participants underwent Optical coherence tomography (OCT) and OCT-angiography. Brain magnetic resonance imaging, mini-mental state examination, and trail making test A were conducted in CADASIL patients and carriers. White matter hyperintensity (WMH) severity was scored by modified Scheltens scale.RESULTSThere was a significant difference in the retinal arteriolar wall thickness among CADASIL patients (mean, 15.14 μm), carriers (mean, 14.30 μm), and controls (mean, 13.43 μm) (p = 0.009). OCT revealed significantly thinner peripapillary retinal nerve fiber layer thickness in CADASIL patients compared to the controls (p = 0.003), but there were no differences in the thickness of ganglion cell-inner plexiform layer or macular vessel densities among three groups. Multivariate regression analysis found that increased venular inner and outer diameters correlated with a greater WMH severity (p = 0.026 and 0.018), and an increased risk of lacunae and stroke in CADASIL patients.CONCLUSIONSymptomatic CADASIL patients have the greatest retinal arteriolar wall thickness, followed by preclinical carriers, and healthy controls. Larger venular inner and outer diameters were correlated with the WMH severity and presence of lacunae in CADASIL patients, which may be utilized to assess the disease severity of CADASIL.

15 Apr 2025·Internal Medicine

Bilateral Middle Cerebellar Peduncle Sign in a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy and Coronavirus Disease 2019

Article

Author: Tsuboyama, Yoko ; Baba, Yusuke ; Arakawa, Akira ; Tsumoto, Manabu ; Mitsutake, Akihiko ; Ikeda, Shigeru ; Iwata, Nobue K. ; Sakai, Yuto ; Saito, Yuko

A 59-year-old man without risk factors for atherosclerosis was diagnosed with coronavirus disease 2019 (COVID-19). Four days later, he developed dysarthria and gait disturbance. Neurological examination revealed slurred speech, ataxia, and mild cognitive decline. Brain magnetic resonance imaging revealed multiple infarcts in the bilateral middle cerebellar peduncles and leukoencephalopathy, indicating the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Genetic testing confirmed a pathogenic NOTCH3 variant (c.505C>T, p.Arg169Cys) (NM_000435.3). A skin biopsy supported the diagnosis. He was treated with cilostazol and after three months of rehabilitation, he regained an independent walking ability. COVID-19 increases the risk of ischemic stroke in CADASIL patients, with bilateral middle cerebellar peduncle infarctions being notable in the present case.

01 Apr 2025·Stroke

Impaired Resting-State Functional Connectivity in Cerebral Autosomal-Dominant Arteriopathy, Subcortical Infarcts, and Leukoencephalopathy Mutant Mice

Article

Author: Joutel, Anne ; Chung, David Y. ; Aykan, Orhan ; Fung, Wai Yee ; Lai, James Han ; Ayata, Cenk ; Aykan, Sanem Aslihan ; Sakadzic, Sava ; Ho, David ; Sugimoto, Kazutaka

BACKGROUND:Cerebral autosomal-dominant arteriopathy, subcortical infarcts, and leukoencephalopathy is the most prevalent monogenic inherited cause of cerebral small vessel disease. Despite its prevalence, there is currently no proven therapy to prevent or reverse the progression of the disease.METHODS: This study aimed to characterize the functional integrity of long white matter tracts in cerebral autosomal-dominant arteriopathy, subcortical infarcts, and leukoencephalopathy transgenic mice expressing R169C mutant Notch3 (Notch3 R169C ) compared with wild type littermates (Notch3 WT ), both with and without a superimposed focal white matter lesion in the corpus callosum, utilizing optical resting-state functional connectivity imaging alongside behavioral examinations. In addition, we examined the efficacy of tocotrienol, a neuroprotective derivative of vitamin E derived from palm oil, which has shown promise in preventing white matter disease progression in clinical trials involving patients with small vessel disease. RESULTS: At baseline, resting-state interhemispheric and intrahemispheric functional connectivity was significantly lower in Notch3 R169C than in Notch3 WT ( P =0.004), and the grid walk test revealed a higher number of foot faults in the Notch3 R169C group compared with Notch3 WT . Sex did not interact with the genotype on the primary outcomes. Introducing a lesion in the corpus callosum compromised functional connectivity and behavior outcomes in both genotypes to a similar extent; lesion volumes did not differ between the genotypes. Tocotrienol treatment did not show any protective effect on any end point. CONCLUSIONS: These data show impaired resting-state functional connectivity and increased foot faults in the Notch3 R169C mutant model of cerebral autosomal-dominant arteriopathy, subcortical infarcts, and leukoencephalopathy. Future work will aim to test therapeutic or preventive interventions in cerebral autosomal-dominant arteriopathy, subcortical infarcts, and leukoencephalopathy mutants using these measures.

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Cerebral Autosomal Dominant Arteriopathy and Subcortical Infarcts and Leukoencephalopaty (CADASIL)

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