Research & Literature

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.

Bocchetta M, Mega A, Bernardi L, et al.

Journal of Alzheimer's disease : JAD 2016; (51(1)):277-91 doi:10.3233/JAD-150849.

Interpretation of the evidence for the efficacy and safety of statin therapy.

Collins R, Reith C, Emberson J, et al.

Lancet (London, England) 2016; (388(10059)):2532-2561 doi:10.1016/S0140-6736(16)31357-5.

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Bugiani M, Kevelam SH, Bakels HS, et al.

Neurology 2016; (87(17)):1777-1786 doi:10.1212/WNL.0000000000003251.

European Society for Swallowing Disorders - European Union Geriatric Medicine Society white paper: oropharyngeal dysphagia as a geriatric syndrome.

Baijens LW, Clavé P, Cras P, et al.

Clinical interventions in aging 2016; (11()):1403-1428 doi:10.2147/CIA.S107750.

Relationship between dysarthria and oral-oropharyngeal dysphagia: The current evidence.

Wang BJ, Carter FL, Altman KW

Ear, nose, & throat journal 2018; (97(3)):E1-E9.

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.

Advances in Vestibular Rehabilitation.

Sulway S, Whitney SL

Advances in oto-rhino-laryngology 2019; (82()):164-169 doi:10.1159/000490285.

Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).

Finsterer J, Scorza CA, Scorza FA, Wakil SM

Acta neurologica Belgica 2019; (119(3)):299-303 doi:10.1007/s13760-019-01158-8.

Fatal Intracerebral Hemorrhage in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Case Report.

Chiang CC, Christiansen ME, O'Carroll CB

The neurologist 2019; (24(4)):136-138 doi:10.1097/NRL.0000000000000231.

Genetic dysregulation of endothelin-1 is implicated in coronary microvascular dysfunction.

Ford TJ, Corcoran D, Padmanabhan S, et al.

European heart journal 2020; (41(34)):3239-3252 doi:10.1093/eurheartj/ehz915.

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.

Endothelin-1 signaling maintains glial progenitor proliferation in the postnatal subventricular zone.

Adams KL, Riparini G, Banerjee P, et al.

Nature communications 2020; (11(1)):2138 doi:10.1038/s41467-020-16028-8.

Rationale and design of the Medical Research Council's Precision Medicine with Zibotentan in Microvascular Angina (PRIZE) trial.

Morrow AJ, Ford TJ, Mangion K, et al.

American heart journal 2020; (229()):70-80 doi:10.1016/j.ahj.2020.07.007.

Ethical Considerations on Pediatric Genetic Testing Results in Electronic Health Records.

Kanungo S, Barr J, Crutchfield P, et al.

Applied clinical informatics 2020; (11(5)):755-763 doi:10.1055/s-0040-1718753.

Life Style and Behavioural Factors are Associated with Stroke Recurrence Among Survivors of First Episode of Stroke: A Case Control Study.

Shani SD, Varma RP, Sarma PS, et al.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021; (30(4)):105606 doi:10.1016/j.jstrokecerebrovasdis.2021.105606.

Diagnosis and treatment of neurogenic dysphagia - S1 guideline of the German Society of Neurology.

Dziewas R, Allescher HD, Aroyo I, et al.

Neurological research and practice 2021; (3(1)):23 doi:10.1186/s42466-021-00122-3.

Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD: A Systematic Scoping Review.

Crook A, Jacobs C, Newton-John T, et al.

Alzheimer disease and associated disorders 2021; (35(4)):374-385 doi:10.1097/WAD.0000000000000458.

Assessment of dysarthria and dysphagia in patients with amyotrophic lateral sclerosis: Review of the current evidence.

Lee J, Madhavan A, Krajewski E, Lingenfelter S

Muscle & nerve 2021; (64(5)):520-531 doi:10.1002/mus.27361.

From Three-Months to Five-Years: Sustaining Long-Term Benefits of Endovascular Therapy for Ischemic Stroke.

Ganesh A, Ospel JM, Marko M, et al.

Frontiers in neurology 2021; (12()):713738 doi:10.3389/fneur.2021.713738.

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.

2021 Taiwan Stroke Society Guidelines of blood pressure control for ischemic stroke prevention.

Chi NF, Chung CP, Cheng HM, et al.

Journal of the Chinese Medical Association : JCMA 2022; (85(6)):651-664 doi:10.1097/JCMA.0000000000000738.

Association of Cerebral Small Vessel Disease With Gait and Balance Disorders.

Su C, Yang X, Wei S, Zhao R

Frontiers in aging neuroscience 2022; (14()):834496 doi:10.3389/fnagi.2022.834496.

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.

Spatiotemporal gait characteristics during single- and dual-task walking are associated with the burden of cerebral small vessel disease.

Xia C, Xie H, Li T, et al.

Frontiers in neurology 2023; (14()):1285947 doi:10.3389/fneur.2023.1285947.

Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.

Itoh K, Tsukimoto J

Glycoconjugate journal 2023; (40(6)):611-619 doi:10.1007/s10719-023-10135-6.

Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.

Vears DF, McLean A, La Spina C, et al.

Twin research and human genetics : the official journal of the International Society for Twin Studies 2024; (27(2)):120-127 doi:10.1017/thg.2024.9.

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future.

Abbas MT, Baba Ali N, Farina JM, et al.

Biomedicines 2024; (12(3)) doi:10.3390/biomedicines12030682.

Stroke.

Hilkens NA, Casolla B, Leung TW, de Leeuw FE

Lancet (London, England) 2024; (403(10446)):2820-2836 doi:10.1016/S0140-6736(24)00642-1.

Clinical Reasoning: A 50-Year-Old Man With Intracerebral Hemorrhage and Tortuous Retinal Arterioles.

Bouchart J, Weber S, Coste T, et al.

Neurology 2024; (103(6)):e209796 doi:10.1212/WNL.0000000000209796.

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.

The experience of "at-risk" status for familial frontotemporal dementia (fFTD) and its impact on reproductive decision-making: A qualitative study.

Fahy N, Hayes OS, Greaves CV, et al.

Journal of genetic counseling 2025; (34(1)):e2000 doi:10.1002/jgc4.2000.

Secondary stroke prevention beyond antiplatelets: The role of colchicine and GLP-1RA - an ounce of prevention is worth a pound of cure.

Mijajlović MD, Bornstein NM, Aleksić V

Therapeutic advances in neurological disorders 2025; (18()):17562864251326769 doi:10.1177/17562864251326769.

Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature.

Schaa KL, Thoeny R, Benson RJ, et al.

Journal of genetic counseling 2025; (34(3)):e70053 doi:10.1002/jgc4.70053.

Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review.

Zhao Y, Lu Y, Wang F, et al.

Frontiers in neurology 2025; (16()):1573052 doi:10.3389/fneur.2025.1573052.

Assessment of Gait Disorders in Cerebral Small Vessel Disease: Advantages of Different Clinical Scales.

Dobrynina LA, Bitsieva ET, Shamtieva KV, et al.

Journal of clinical medicine 2025; (14(18)) doi:10.3390/jcm14186626.

Lessons learned from 30 years of presymptomatic testing in Huntington Disease.

Pierron L, Hébert M, Gargiulo M, Durr A

Revue neurologique 2025; (181(9)):852-862 doi:10.1016/j.neurol.2025.07.009.

Lipid management for primary and secondary stroke prevention consensus paper of the International Lipid Expert Panel (ILEP).

Banach M, Toth PP, Ahn HJ, et al.

Progress in cardiovascular diseases 2026; (94()):78-110 doi:10.1016/j.pcad.2025.11.003.

Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis.

Gürbüz BB, Özalp Ö

Molecular syndromology 2026; (17(4)):409-416 doi:10.1159/000549013.

Dysphagia and Dysarthria in Neurodegenerative Diseases: A Multisystem Network Approach to Assessment and Management.

Fiorella ML, Ballini L, Lavermicocca V, et al.

Audiology research 2026; (16(1)) doi:10.3390/audiolres16010009.

Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL.

Cerfontaine MN, Gravesteijn G, Hack RJ, et al.

Neurology. Genetics 2026; (12(2)):e200358 doi:10.1212/NXG.0000000000200358.