Search Our Scientific Publications & Authors

J Headache Pain 2019 Apr 17;20(1):36. Epub 2019 Apr 17.

Department of Neurology and Jiuyuan Municipal Stroke Center, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, 639 Zhizaoju Road, Shanghai, 200011, People's Republic of China.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) mainly manifests with cognitive impairment. Cognitive deficits in patients with CADASIL are correlated with structural brain changes such as lacunar lesion burden, normalized brain volume, and anterior thalamic radiation lesions, but changes in resting-state functional brain activity in patients with CADASIL have not been reported.

Methods: This study used resting-state functional magnetic resonance imaging (fMRI) to measure the amplitude of low-frequency fluctuation (ALFF) in 22 patients with CADASIL and 44 healthy matched controls. Read More

J Mol Neurosci 2019 Apr 16. Epub 2019 Apr 16.

Department of Neurology, Celal Bayar University, 45000, Manisa, Turkey.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary microangiopathy with adult onset caused by a missense mutation in the NOTCH3 gene in chromosome 19p13. It presents with autosomal dominant arteriopathy, subcortical infarctions, and leukoencephalopathy. Its common clinical presentations are seen as recurrent strokes, migraine or migraine-like headaches, progressive dementia, pseudobulbar paralysis, and psychiatric conditions. Read More

J Stroke Cerebrovasc Dis 2019 Apr 4. Epub 2019 Apr 4.

Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. Electronic address:

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is definitely diagnosed by genetic testing. Such testing involves the analysis of exons 2-24 of NOTCH3, which encode the epidermal growth factor-like repeat domain, where CADASIL mutations are localized. We previously reported clinical diagnostic criteria for screening CADASIL-suspected Japanese patients prior to genetic testing. Read More

Ophthalmologe 2019 Apr 3. Epub 2019 Apr 3.

Universitätsaugenklinik Erlangen, FAU Erlangen-Nürnberg, 91054, Erlangen, Deutschland.

Background: Optical coherence tomography angiography (OCTA) enables a noninvasive detailed imaging of retinal and choroidal vessels of the fundus. In neuronal diseases changes in retinal structures can be imaged and measured with OCT and OCTA.

Objective: Can OCTA be used in neuronal diseases?

Material And Methods: Evaluation of recent scientific articles and studies extracted from Medline on the topic of OCTA and neuronal diseases. Read More

JAMA Netw Open 2019 Mar 1;2(3):e191350. Epub 2019 Mar 1.

Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, Massachusetts.

Importance: Some of the unexplained heritability of Alzheimer disease (AD) may be due to rare variants whose effects are not captured in genome-wide association studies because very large samples are needed to observe statistically significant associations.

Objective: To identify genetic variants associated with AD risk using a nonstatistical approach.

Design, Setting, And Participants: Genetic association study in which rare variants were identified by whole-exome sequencing in unrelated individuals of European ancestry from the Alzheimer's Disease Sequencing Project (ADSP). Read More

J Pediatr Hematol Oncol 2019 Mar 15. Epub 2019 Mar 15.

Departments of Hematology/Oncology.

Objective: The main objectives of this article were to study a severe congenital protein C deficiency (PCD) in a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and analyze the cause of this case.

Materials And Methods: We had recorded clinical manifestations of the patient, laboratory tests, imaging studies, and gene sequencing of the PROC gene and NOTCH3 gene to study the disease in this family. We checked the change of NOTCH3 protein by immunohistochemistry. Read More

Hell J Nucl Med 2019 Jan-Apr;22 Suppl:95-101

Cognitive and Movement Disorders Unit and Unit of Neurochemistry and Biological Markers, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens Greece.

Hereditary types of ischemic cerebral subcortical small vessel disease (SSVD) are rare, usually autosomal dominant, diseases, due to an abnormality in vessel wall synthesis. They may present with various combinations of migraine with aura, ischemic events (transient ischemic attacks, lacunar strokes) and progressively worsening ischemic lesion load in brain imaging. Eventually, vascular cognitive impairment (usually of the frontal-subcortical type) develops, frequently accompanied by behavioral-psychiatric symptoms and bilateral pyramidal and pseudobulbar signs leading to severe disability and premature death. Read More

Curr Opin Hematol 2019 May;26(3):193-198

National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.

Purpose Of Review: Recent advances in genetic evaluation improved the identification of several variants in the NOTCH3 gene causing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Despite improved diagnosis, the disease mechanism remains an elusive target and an increasing number of scientific/clinical groups are investigating CADASIL to better understand it. The purpose of this review is to summarize the current knowledge in CADASIL. Read More

Neurol Sci 2019 Mar 1. Epub 2019 Mar 1.

Medical Genetics Unit, Department of Laboratory Medicine, ASST Grande Ospedale Metropolitano Niguarda, Piazza Ospedale Maggiore 3, Milan, Italy.

Protein Cell 2019 Apr 18;10(4):249-271. Epub 2019 Feb 18.

Advanced Innovation Center for Human Brain Protection, National Clinical Research Center for Geriatric Disorders, Xuanwu Hospital Capital Medical University, Beijing, 100053, China.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary cerebrovascular disease caused by a NOTCH3 mutation. However, the underlying cellular and molecular mechanisms remain unidentified. Here, we generated non-integrative induced pluripotent stem cells (iPSCs) from fibroblasts of a CADASIL patient harboring a heterozygous NOTCH3 mutation (c. Read More

Zh Nevrol Psikhiatr Im S S Korsakova 2019;119(1):102-109

Vladimirsky Moscow Regional Research and Clinical Institute, Moscow, Russia.

The paper addresses genetic causes of stroke: MELAS, antiphospholipid syndrome, CADASIL, Fabry disease. The etiology and pathogenesis, symptoms, diagnosis, treatment methods of these diseases are described. Read More

Seizure 2019 Mar 30;66:36-38. Epub 2019 Jan 30.

Department of Neurology, Auckland City Hospital, Private Bag 92024, Auckland 1142, New Zealand.

NMR Biomed 2019 Mar 29;32(3):e4064. Epub 2019 Jan 29.

Heart and Stroke Foundation Canadian Partnership for Stroke Recovery, Sunnybrook Research Institute, University of Toronto, Toronto, ON, Canada.

Cerebrovascular reactivity (CVR) is a dynamic measure of the cerebral blood vessel response to vasoactive stimulus. Conventional CVR measures amplitude changes in the blood-oxygenation-level-dependent (BOLD) signal per unit change in end-tidal CO (P CO ), effectively discarding potential timing information. This study proposes a deconvolution procedure to characterize CVR responses based on a vascular transfer function (VTF) that separates amplitude and timing CVR effects. Read More

Front Psychiatry 2018 14;9:741. Epub 2019 Jan 14.

Department of Neurology, School of Medicine, The Second Affiliated Hospital of Zhejiang University, Hangzhou, China.

It remains unclear whether the degree of white matter tract damage or cerebral hypoperfusion can better predict global cognitive impairment in CADASIL. We sought to determine the independent effects of cerebral perfusion status and white matter integrity on the cognition. We reviewed prospectively collected clinical and imaging data from genetically-confirmed CADASIL patients who underwent both arterial spin labeling (ASL) perfusion MRI and diffusion tensor imaging (DTI). Read More

Sci Rep 2019 Jan 28;9(1):787. Epub 2019 Jan 28.

Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is thought to be a pure genetic form of subcortical vascular cognitive impairment (SVCI). The aim of this study was to compare white matter integrity and cortical thickness between typical CADASIL, a genetic form, and two sporadic forms of SVCI (with NOTCH3 and without NOTCH3 variants). We enrolled typical CADASIL patients (N = 11) and SVCI patients [with NOTCH3 variants (N = 15), without NOTCH3 variants (N = 101)]. Read More

MMW Fortschr Med 2019 01;161(1):62-66

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BMJ Case Rep 2019 Jan 20;12(1). Epub 2019 Jan 20.

Liaison Psychiatry, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

A middle-aged woman presented with a history of symptoms of depression with psychotic features severely affecting her physical health. Neuroimaging of her brain suggested pathological changes out of keeping with her age, leading to further investigations including genetic testing for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis was also considered as a differential diagnosis as an initial serum test for anti-NMDAR autoantibodies was positive. Read More

Rev Esp Anestesiol Reanim 2019 Apr 18;66(4):226-229. Epub 2019 Jan 18.

Servicio de Anestesiología y Reanimación, Hospital de Rehabilitación y Traumatología, Hospital Universitario Virgen del Rocío, Sevilla, España.

CADASIL (cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy) disease is an inherited systemic arterial disease that affects the small and medium calibre cerebral vessels. Around 500 families are affected in the world, most of them in Europe. It is characterised by migraine attacks, subcortical dementia, neuropsychiatric disorders, and recurrent ischaemic strokes. Read More

Ann Clin Transl Neurol 2019 Jan 20;6(1):121-128. Epub 2018 Nov 20.

Stroke Center and Department of Neurology National Taiwan University Hospital Taipei Taiwan.

Objective: Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy CADASIL) caused by mutations vary between ethnicities and regions. In Taiwan, more than 70% of CADASIL patients carry the mutation hot spot of p.R544C. Read More

Ann Clin Transl Neurol 2019 Jan 20;6(1):46-56. Epub 2018 Nov 20.

Department of Clinical Genetics Leiden University Medical Center Leiden the Netherlands.

Objective: To validate whether serum Neurofilament Light-chain (NfL) levels correlate with disease severity in CADASIL, and to determine whether serum NfL predicts disease progression and survival.

Methods: Fourty-one (pre-) manifest individuals with CADASIL causing mutations and 22 healthy controls were recruited from CADASIL families. At baseline, MRI-lesion load and clinical severity was determined and serum was stored. Read More

Stroke 2019 Feb;50(2):283-290

From the Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, United Kingdom (A.M.D., R.Y.Y.T., J.T., M.T., H.S.M.).

Background and Purpose- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of stroke usually presenting with migraine with aura, lacunar infarcts, and cognitive impairment. Acute encephalopathy is a less recognized presentation of the disease. Methods- Data collected prospectively from 340 consecutively recruited symptomatic patients with diagnosis of CADASIL seen in a British National CADASIL clinic was retrospectively reviewed and original clinical records and imaging obtained. Read More

Neurotherapeutics 2019 Jan 11. Epub 2019 Jan 11.

Division of Neurocritical Care, Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University, 600 N. Wolfe Street, Baltimore, MD, 21287, USA.

Stroke remains a leading cause of disability and death worldwide despite significant scientific and therapeutic advances. Therefore, there is a critical need to improve stroke prevention and treatment. In this review, we describe several examples that leverage nucleic acid therapeutics to improve stroke care through prevention, acute treatment, and recovery. Read More

Neurosci Lett 2019 Apr 8;698:173-179. Epub 2019 Jan 8.

Schepens Eye Research Institute of Massachusetts Eye and Ear and Department of Ophthalmology, Harvard Medical School, Boston, MA, United States.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited small vessel disease that leads to early cerebrovascular events and functional disability. It is the most common single-gene disorder leading to stroke. Magnetic resonance imaging (MRI) is a central component of the diagnosis and monitoring of CADASIL. Read More

Gen Psychiatr 2018 10;31(3):e100017. Epub 2018 Nov 10.

Department of Psychiatry, M. G. M. Medical College Indore, Indore, Madhya Pradesh, India.

Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) is the most common monogenic form of cerebral small-vessel disease characterised by recurrent strokes. Behavioural disturbance also presents in a significant proportion of subjects as neurotic spectrum disorders and psychotic features are rarely reported. In this case report, we highlight a 32-year-old man with CADASIL syndrome, who had overt psychotic symptoms with neurological signs later on. Read More

Stroke 2018 Dec 10:STROKEAHA118022923. Epub 2018 Dec 10.

'Luigi Sacco' Department of Biomedical and Clinical Sciences, University of Milan, Italy (L.P.).

Background and Purpose- Small-vessel damage in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with impaired vascular constriction and dilation. We used a functional magnetic resonance imaging task with an event-related design of stimulus to explore the anticipated abnormally decreased blood oxygen level dependent effect in CADASIL. Methods- Twenty-one CADASIL patients and 16 healthy controls performed a Go/No-go task exploring reactive and proactive phases of inhibition control in a 3-T magnet. Read More

Transl Stroke Res 2018 Dec 18. Epub 2018 Dec 18.

Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.

J Stroke Cerebrovasc Dis 2019 Mar 10;28(3):574-576. Epub 2018 Dec 10.

Department of Neurology, Pomeranian Medical University, Szczecin, Poland. Electronic address:

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetically determined disease of the cerebral vessels, characterized by recurrent ischemic strokes, dementia, and degeneration of the cerebral white matter. The condition is caused by a mutation in the NOTCH3 gene, whose product plays a great role in the development and physiology of the cardiovascular system. Magnetic resonance imaging reveals multiple hyperintensive lesions of the white matter in the T2-weighted images also in asymptomatic carriers of CADASIL and can be detected even 10-15 years prior to clinical signs. Read More

PLoS One 2018 6;13(12):e0208620. Epub 2018 Dec 6.

Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.

Background: Anterior temporal lobe hyperintensities detected by brain MRI are a recognized imaging hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Because similar findings may be present in patients with myotonic dystrophy type 1 (DM1), the brain MRI in these two diseases is often misinterpreted. We compared the MRI findings between the two entities to examine whether they display distinctive characteristics. Read More

J Neurol Neurosurg Psychiatry 2019 May 22;90(5):543-554. Epub 2018 Nov 22.

Department of Neuroinflammation, UCL Institute of Neurology, London, UK.

Adult-onset leukodystrophies and genetic leukoencephalopathies comprise a diverse group of neurodegenerative disorders of white matter with a wide age of onset and phenotypic spectrum. Patients with white matter abnormalities detected on MRI often present a diagnostic challenge to both general and specialist neurologists. Patients typically present with a progressive syndrome including various combinations of cognitive impairment, movement disorders, ataxia and upper motor neuron signs. Read More

Front Neurol 2018 16;9:862. Epub 2018 Oct 16.

Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the best known and the most common monogenic small vessel disease (SVD). Cognitive impairment is an inevitable feature of CADASIL. Total SVD score and global cortical atrophy (GCA) scale were found to be good predictors of poor cognitive performance in community-dwelling adults. Read More

J Clin Neurosci 2018 Dec 24;58:25-29. Epub 2018 Oct 24.

Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, 3801 rue University, Montreal H3A2B4, QC, Canada. Electronic address:

In order to evaluate the usefulness of presymptomatic MRI, we performed 3T brain MRI and Sanger gene sequencing in a proband with suspected but not confirmed CADASIL and her apparently asymptomatic father. The 35-year-old proband presented with migraine with visual aura. Brain MRI showed diffuse leukoencephalopathy, suggesting CADASIL. Read More

Mult Scler Relat Disord 2019 Jan 13;27:294-297. Epub 2018 Nov 13.

Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy. Electronic address:

Background: Peak width of skeletonized mean diffusivity (PSMD) is a novel and fully automated, MRI biomarker, which has shown clinical relevance in cerebral small vessel diseases (SVD). We aimed here to assess PSMD levels across the brain of patients with multiple sclerosis (MS), in comparison to normal controls (NC) and patients with CADASIL, a genetically defined form of severe SVD.

Methods: We assessed PSMD in relapsing-remitting (RR) MS patients (n = 47) in comparison to age-matched CADASIL patients (n = 25) and NC (n = 28). Read More

Brain Res 2019 Mar 13;1707:74-78. Epub 2018 Nov 13.

Neuroscience Group, University of Antioquia, Medellin, Colombia; Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder and is caused by mutations of the NOTCH3 gene. Cognitive decline in CADASIL is characterized by early impairments of attention, memory, and executive functions. Studying asymptomatic individuals with CADASIL offers a unique genetic model to understand preclinical vascular cognitive impairment and dementia. Read More

Neuropathology 2018 Dec 6;38(6):601-608. Epub 2018 Nov 6.

Department of Experimental Pharmacology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a stroke and dementia syndrome with degeneration and loss of vascular smooth muscle cells (VSMCs). The disease is due to mutations in NOTCH3 playing an important role in VSMC differentiation, proliferation and apoptosis. Searching for a possible cause of VSMC dysfunction in CADASIL, we investigated morphology and proliferative activity the affected myocytes. Read More

Eur J Cell Biol 2018 Nov 22;97(8):557-567. Epub 2018 Oct 22.

Division of Neurogeriatrics, Center for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Huddinge, Sweden. Electronic address:

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a familial progressive degenerative disorder and is caused by mutations in NOTCH3 gene. Previous study reported that mutant NOTCH3 is more prone to form aggregates than wild-type NOTCH3 and the mutant aggregates are resistant to degradation. We hypothesized that aggregation or accumulation of NOTCH3 could be due to impaired lysosomal-autophagy machinery in VSMC. Read More

Stroke 2018 Nov;49(11):2793-2800

From the Department of Neurobiology, Care Sciences, and Society (K.C., H.K.), Karolinska Institutet Stockholm, Sweden.

Brain 2018 Nov;141(11):3193-3210

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Apathy is a syndrome of reduced motivation that commonly occurs in patients with cerebral small vessel disease, including those with the early onset form, CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). The cognitive mechanisms underlying apathy are poorly understood and treatment options are limited. We hypothesized that disrupted effort-based decision-making, the cognitive process by which potential rewards and the effort cost required to obtain them is integrated to drive behaviour, might underlie the apathetic syndrome. Read More

Transl Stroke Res 2018 Oct 18. Epub 2018 Oct 18.

Epidemiology and Public Health, Institute of Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter, EX2 5DW, UK.

Cell Mol Life Sci 2019 Jan 16;76(2):283-300. Epub 2018 Oct 16.

Departments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, P.O. Box 208082, New Haven, CT, 06520-8082, USA.

Cerebrovascular disorders are underlain by perturbations in cerebral blood flow and abnormalities in blood vessel structure. Here, we provide an overview of the current knowledge of select cerebrovascular disorders that are associated with genetic lesions and connect genomic findings with analyses aiming to elucidate the cellular and molecular mechanisms of disease pathogenesis. We argue that a mechanistic understanding of genetic (familial) forms of cerebrovascular disease is a prerequisite for the development of rational therapeutic approaches, and has wider implications for treatment of sporadic (non-familial) forms, which are usually more common. Read More

J Neurol 2018 Dec 11;265(12):2934-2943. Epub 2018 Oct 11.

Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL.

Methods: Patients with lacunar stroke or TIA were included in the present study. Read More

J Neurol Neurosurg Psychiatry 2018 Oct 11. Epub 2018 Oct 11.

Stroke Center and Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.

Neurol Genet 2018 Oct 19;4(5):e270. Epub 2018 Sep 19.

Department of Neurology, Tygerberg Academic Hospital, University of Stellenbosch, Cape Town, South Africa.

Genet Med 2018 Sep 20. Epub 2018 Sep 20.

CADASIL Research Group, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

This Article was originally published under Nature Research's License to Publish, but has now been made available under a [CC BY 4.0] license. The PDF and HTML versions of the Article have been modified accordingly. Read More

J Neurol Sci 2018 11 29;394:38-40. Epub 2018 Aug 29.

Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.. Electronic address:

J Cardiovasc Comput Tomogr 2018 Aug 31. Epub 2018 Aug 31.

Department of Radiology, Innsbruck Medical University, Austria. Electronic address:

We report a rare case of a CADASIL-syndrome with cardiac involvement presenting as ANOCA (angina in the absence of obstructive coronary artery disease). Our case highlights the added value of non-invasive fractional flow reserve (FFR) over coronary CT angiography (CTA), and recommends CTA as useful indication in CADASIL patients for screening of occult coronary artery disease (CAD). Read More

BMC Neurol 2018 Aug 31;18(1):134. Epub 2018 Aug 31.

Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima City, Kagoshima, 890-8520, Japan.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by central nervous system dysfunctions. It is unclear whether CADASIL is involved in peripheral neuropathy.

Case Presentation: A 67-year-old Japanese man with stepwise progression of sensory and motor neuropathy was admitted to our hospital. Read More

Neurology 2018 Sep 3;91(10):e956-e963. Epub 2018 Aug 3.

From the Departments of Neurology (I.d.B., A.H.S., R.Z., I.v.d.S., A.M.J.M.v.d.M., M.D.F., G.M.T.), Human Genetics (A.M.J.M.v.d.M.), and Internal Medicine (E.J.P.d.K.), Leiden University Medical Center, Leiden, the Netherlands; and Center for Clinical Pharmacology (L.B., J.N.d.H.), University Hospitals Leuven and Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Belgium.

Objective: We aimed to evaluate the role of endothelial-dependent and endothelial-independent vascular reactivity in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), both cerebral small vessel diseases are considered models for stroke, vascular dementia, and migraine.

Methods: RVCL-S (n = 18) and CADASIL (n = 23) participants with and mutations, respectively, were compared with controls matched for age, body mass index, and sex (n = 26). Endothelial function was evaluated by flow-mediated vasodilatation, and endothelial-independent vascular reactivity (i. Read More

Virchows Arch 2018 Dec 2;473(6):771-774. Epub 2018 Aug 2.

INSERM U942, Paris, France.

Cerebral autosomal dominant arteriolopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is the most common form of hereditary small vessel disease (SVD) of the brain. Neuronal apoptosis has been demonstrated in the cortex of patients. Whether it is associated with an activation of the pro-apoptotic protein PKR pathway is unknown. Read More

Can J Neurol Sci 2018 07;45(4):462-463

1Department of Clinical Neurological Sciences,Western University,London,Ontario,Canada.