Research & Literature

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Meuwissen ME, Halley DJ, Smit LS, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(11)):843-53 doi:10.1038/gim.2014.210.

Prevention and Management of Cerebral Small Vessel Disease.

Mok V, Kim JS

Journal of stroke 2015; (17(2)):111-22 doi:10.5853/jos.2015.17.2.111.

HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.

Chen Z, Migeon T, Verpont MC, et al.

Journal of the American Society of Nephrology : JASN 2016; (27(4)):1042-54 doi:10.1681/ASN.2014121217.

Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

Verdura E, Hervé D, Bergametti F, et al.

Annals of neurology 2016; (80(5)):741-753 doi:10.1002/ana.24782.

Different types of white matter hyperintensities in CADASIL: Insights from 7-Tesla MRI.

De Guio F, Vignaud A, Chabriat H, Jouvent E

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2018; (38(9)):1654-1663 doi:10.1177/0271678X17690164.

Hereditary cerebral small vessel disease and stroke.

Søndergaard CB, Nielsen JE, Hansen CK, Christensen H

Clinical neurology and neurosurgery 2017; (155()):45-57 doi:10.1016/j.clineuro.2017.02.015.

Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.

Milne SC, Corben LA, Georgiou-Karistianis N, et al.

Neurorehabilitation and neural repair 2017; (31(7)):609-622 doi:10.1177/1545968317712469.

Free water determines diffusion alterations and clinical status in cerebral small vessel disease.

Duering M, Finsterwalder S, Baykara E, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2018; (14(6)):764-774 doi:10.1016/j.jalz.2017.12.007.

Updates on Prevention of Hemorrhagic and Lacunar Strokes.

Tsai HH, Kim JS, Jouvent E, Gurol ME

Journal of stroke 2018; (20(2)):167-179 doi:10.5853/jos.2018.00787.

Encephalopathy in a Large Cohort of British Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients.

Drazyk AM, Tan RYY, Tay J, et al.

Stroke 2019; (50(2)):283-290 doi:10.1161/STROKEAHA.118.023661.

Antiplatelet Therapy in Cerebral Small Vessel Disease.

Bouasquevisque DS, Benavente OR, Shoamanesh A

Current neurology and neuroscience reports 2019; (19(9)):61 doi:10.1007/s11910-019-0979-y.

Cervical Spinal Involvement in a Chinese Pedigree With Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy Caused by a 3' Untranslated Region Mutation of COL4A1 Gene.

Zhao YY, Duan RN, Ji L, et al.

Stroke 2019; (50(9)):2307-2313 doi:10.1161/STROKEAHA.119.024875.

First Report of a pCys194Arg Notch 3 Mutation in a Romanian CADASIL Patient with Transient Ischemic Attacks and Patent Foramen Ovale - Case Report and Brief Review.

Dulamea AO, Lupescu IC, Lupescu IG

Maedica 2019; (14(3)):305-309 doi:10.26574/maedica.2019.14.3.305.

Stroke warning syndromes.

Sen A, Birns J, Bhalla A

British journal of hospital medicine (London, England : 2005) 2020; (81(1)):1-5 doi:10.12968/hmed.2019.0222.

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

Mancuso M, Arnold M, Bersano A, et al.

European journal of neurology 2020; (27(6)):909-927 doi:10.1111/ene.14183.

A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Algahtani H, Shirah B, Alharbi SY, et al.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2020; (29(7)):104832 doi:10.1016/j.jstrokecerebrovasdis.2020.104832.

Impact of Circadian Blood Pressure Pattern on Silent Cerebral Small Vessel Disease: A Systematic Review and Meta-Analysis.

Chokesuwattanaskul A, Cheungpasitporn W, Thongprayoon C, et al.

Journal of the American Heart Association 2020; (9(12)):e016299 doi:10.1161/JAHA.119.016299.

Computed tomography-negative symptomatic intracerebral hemorrhage in a patient with cerebral small vessel disease: A case report.

Han J, Yang H, Bae JH, et al.

Medicine 2020; (99(29)):e21382 doi:10.1097/MD.0000000000021382.

Recurrent Pontine Strokes in a Young Male.

Grobe-Einsler M, Urbach H, Paus S

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2020; (29(12)):105386 doi:10.1016/j.jstrokecerebrovasdis.2020.105386.

Hereditary Cerebral Small Vessel Diseases and Stroke: A Guide for Diagnosis and Management.

Guey S, Lesnik Oberstein SAJ, Tournier-Lasserve E, Chabriat H

Stroke 2021; (52(9)):3025-3032 doi:10.1161/STROKEAHA.121.032620.

ESO Guideline on covert cerebral small vessel disease.

Wardlaw JM, Debette S, Jokinen H, et al.

European stroke journal 2021; (6(2)):CXI-CLXII doi:10.1177/23969873211012132.

A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy.

Li Q, Wang C, Li W, et al.

Translational stroke research 2022; (13(2)):238-244 doi:10.1007/s12975-021-00926-0.

Reduced macular vessel density and inner retinal thickness correlate with the severity of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Lin CW, Yang ZW, Chen CH, et al.

PloS one 2022; (17(5)):e0268572 doi:10.1371/journal.pone.0268572.

Antithrombotic therapy to prevent cognitive decline in people with small vessel disease on neuroimaging but without dementia.

Kwan J, Hafdi M, Chiang LLW, et al.

The Cochrane database of systematic reviews 2022; (7()):CD012269 doi:10.1002/14651858.CD012269.pub2.

A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Budhdeo S, de Paiva ARB, Wade C, et al.

Journal of neurology 2022; (269(12)):6673-6677 doi:10.1007/s00415-022-11302-9.

Cognition, mood and behavior in CADASIL.

Chabriat H, Lesnik Oberstein S

Cerebral circulation - cognition and behavior 2022; (3()):100043 doi:10.1016/j.cccb.2022.100043.

Main features of COL4A1-COL4A2 related cerebral microangiopathies.

Guey S, Hervé D

Cerebral circulation - cognition and behavior 2022; (3()):100140 doi:10.1016/j.cccb.2022.100140.

Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke.

Roos J, Müller S, Giese A, et al.

Journal of neurology 2023; (270(5)):2631-2639 doi:10.1007/s00415-023-11590-9.

Management of Inherited CNS Small Vessel Diseases: The CADASIL Example: A Scientific Statement From the American Heart Association.

Meschia JF, Worrall BB, Elahi FM, et al.

Stroke 2023; (54(10)):e452-e464 doi:10.1161/STR.0000000000000444.

Antithrombotic Therapy for Primary and Secondary Prevention of Ischemic Stroke: JACC State-of-the-Art Review.

Greco A, Occhipinti G, Giacoppo D, et al.

Journal of the American College of Cardiology 2023; (82(15)):1538-1557 doi:10.1016/j.jacc.2023.07.025.

Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.

Enokizono M, Kurokawa R, Yagishita A, et al.

Japanese journal of radiology 2024; (42(2)):109-125 doi:10.1007/s11604-023-01493-0.

'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy.

Kikumoto M, Kurashige T, Ohshita T, et al.

Brain communications 2023; (5(6)):fcad281 doi:10.1093/braincomms/fcad281.

European stroke organisation (ESO) guideline on cerebral small vessel disease, part 2, lacunar ischaemic stroke.

Wardlaw JM, Chabriat H, de Leeuw FE, et al.

European stroke journal 2024; (9(1)):5-68 doi:10.1177/23969873231219416.

Small-vessel disease in the brain.

Singh A, Bonnell G, De Prey J, et al.

American heart journal plus : cardiology research and practice 2023; (27()):100277 doi:10.1016/j.ahjo.2023.100277.

Unveiling a Neurological Enigma: Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Presenting With Facial Palsy.

Jain S, Sirekulam V, Kinthada S, et al.

Cureus 2024; (16(5)):e60165 doi:10.7759/cureus.60165.

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

Gasparini S, Balestrini S, Saccaro LF, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2024; (196(4)):e32099 doi:10.1002/ajmg.c.32099.

CADA-PRO: A Patient Questionnaire Measuring Key Cognitive, Motor, Emotional, and Behavioral Outcomes in CADASIL.

Di Folco C, Jabouley A, Reyes S, et al.

Stroke 2024; (55(10)):2439-2448 doi:10.1161/STROKEAHA.124.047692.

Monogenic causes of cerebral small vessel disease and stroke.

Guey S, Chabriat H

Handbook of clinical neurology 2024; (204()):273-287 doi:10.1016/B978-0-323-99209-1.00018-1.

A patient with pontine autosomal dominant microangiopathy and leukoencephalopathy caused by a de novo 3' untranslated region mutation of COL4A1 gene: case report and literature review.

Xie F, Li S, Hu X, Li W

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(6)):2833-2838 doi:10.1007/s10072-025-08025-w.

"Chocolate Chip Sign" on Susceptibility-Weighted Imaging: A Novel Neuroimaging Biomarker for HTRA1-Related Cerebral Small Vessel Disease.

Ando S, Saito R, Kitahara S, et al.

Neurology. Genetics 2025; (11(2)):e200237 doi:10.1212/NXG.0000000000200237.

Heterogeneity of the capsular warning syndrome; experiences of a single centre.

Boncuk Ulaş S, Acar T, Acar BA, et al.

Annals of medicine 2025; (57(1)):2514942 doi:10.1080/07853890.2025.2514942.

COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.

Tambala D, Vassar R, Snow J, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(9)):101514 doi:10.1016/j.gim.2025.101514.

Diagnostic performance of "pons chocolate chip sign" in heterozygous HTRA1-related cerebral small vessel disease.

Guo Y, Peng Q, Yang Y, et al.

BMC neurology 2025; (25(1)):360 doi:10.1186/s12883-025-04374-3.

COL4A1/COL4A2 gene duplication causing hereditary cerebral small vessel disease in a Chinese patient.

Hou M, Du J, Qi X, Cao S

Acta neurologica Belgica 2026; (126(3)):817-822 doi:10.1007/s13760-026-03011-1.

SVO70 (Optimal Target Low-Density Lipoprotein Cholesterol Level for Small Vessel Occlusion Stroke): Rationale and Study Design.

Yang W, Song TJ, Koh SH, et al.

Journal of the American Heart Association 2026; (15(9)):e046824 doi:10.1161/JAHA.125.046824.

CADASIL: a practical review for the neurologist.

Wan M, Hill MD

Practical neurology 2026; doi:10.1136/pn-2025-004718.