Determining Clinical Disease Progression in Symptomatic Patients With CADASIL.

Background And Objectives: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most frequent small artery brain disease caused by pathogenic variants of the NOTCH3 gene. During the disease, we still do not know how the various deficits progress and develop with each other at different stages of the disease. We aim to model disease progression and identify possible progressive subgroups and the effects of different covariates on clinical worsening.

NOTCH3 variants of unknown significance underpin vascular dysfunction in neurodegenerative disease: a case series of three nfvPPA-FTD patients.

Introduction: The NOTCH3 gene encodes for an evolutionarily conserved protein, whose functions encompass both embryonic cell proliferation and adult tissue-specific differentiation. Among others, a pivotal role in maintaining functional integrity of neurovascular unit (NVU) is supported by the association of several NOTCH3 gene mutations with neuroimaging markers of cerebral small vessel disease (SVD). Indeed, a pathogenic role of NOTCH3 is recognised in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) with Aortic Dissection.

This report describes the case of a 48-year-old Japanese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) who also presented with aortic dissection. The patient had a history of hypertension, diabetes mellitus, dyslipidemia, and mild renal failure but had not received any treatment. He developed back pain and was diagnosed with type A aortic dissection via contrast-enhanced chest computed tomography (CT).

Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review.

Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease with slow natural progression. Ischemic stroke and cognitive impairment are its most common clinical symptoms. Here, we report a rare 50-year-old woman who had rapid disease progression with c.

Fabry Disease: A Rare Mutation With Common Clinical Presentation.

Strokes are infrequent in younger adults, making diagnosis of their underlying causes challenging. Fabry disease, a rare genetic condition with a complex and not fully understood pathophysiology, is one potential cause. This report describes a 41-year-old woman with a history of glaucoma, recurrent uveitis, ischemic stroke affecting the posterior circulation, and sensorineural hearing loss.

A CADASIL NOTCH3 mutation leads to clonal hematopoiesis and expansion of Dnmt3a-R878H hematopoietic clones.

Clonal hematopoiesis (CH) is nearly universal in the elderly. The molecular and cellular mechanisms driving CH and the clinical consequences of carrying clonally derived mutant mature blood cells are poorly understood. We recently identified a C223Y mutation in the extracellular domain (ECD) of NOTCH3 as a putative CH driver in mice.

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) in a 32-Year-Old Male Presenting With a Transient Ischemic Attack (TIA).

This case report describes a 32-year-old male with a familial history of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), presenting with right-sided weakness and visual disturbances. The symptoms, consistent with a transient ischemic attack (TIA), resolved spontaneously. Subsequent evaluation, including MRI brain imaging, revealed a high T2 signal in subcortical white matter in the frontal and parietal lobes, consistent with CADASIL.

Subcortical volumes and cognition in CADASIL - A pilot study.

Background: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) represents the most common heritable cause of vascular dementia. Subcortical volumes might be proxies of brain reserve capacity and reflective of cognitive function. We explored the impact of subcortical volumes on cognition in CADASIL patients.

Modifiable vascular risk factors for outcomes in patients with CADASIL: A literature review and meta-analysis of cross-sectional analyzes.

Objective: To investigate the association between outcomes of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and common modifiable vascular risk factors.

Methods: Studies published between 1993 and February 2023 from PubMed, Embase, Cochrane, CNKI, and WanFang, along with their references, were systematically examined. Cross-sectional analyzes in patients with CADASIL with information on modifiable cerebrovascular risk factors and outcomes were included.

A Chinese CADASIL family with a rare heterozygous mutation in exon 2 of NOTCH3: A case report.

Rationale: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease caused by the neurogenic locus notch homolog protein 3 (NOTCH3) gene mutation. In recent years, most of the newly reported mutations of CADASIL patients mainly occur in exon 3 to 24, while the cases related to exon 2 mutation are rare, and clinical research data are relatively insufficient. In this study, we have reported a case of a rare heterozygous mutation c.

Study protocol for LOMCAD Trial: Effect of lomerizine hydrochloride to prevent recurrence of cerebral ischemic events in CADASIL patients.

Objectives: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most common monogenic cerebral small vessel diseases. Our previous observational study suggested that lomerizine hydrochloride, a calcium channel blocker approved in Japan in 1999 for the prevention of migraine headaches, is also effective for preventing recurrent ischemic stroke in CADASIL patients. The aim of this study (LOMCAD trial) is to verify the efficacy of lomerizine hydrochloride.

The prevalence of neuropsychiatric symptoms and correlation with MRI findings in CADASIL patients.

Objective: To assess the prevalence, timing, and functional impact of neuropsychiatric symptoms in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to assess whether these neuropsychiatric symptoms are associated with magnetic resonance imaging (MRI) features of the patients.

Methods: Our study included a total of 78 patients with CADASIL. To assess neuropsychiatric symptoms, we evaluated the caregivers using the Neuropsychiatric Inventory (NPI).