Research & Literature

Functional effects of botulinum toxin type-A treatment and subsequent stretching of spastic calf muscles: a study in patients with hereditary spastic paraplegia.

de Niet M, de Bot ST, van de Warrenburg BP, et al.

Journal of rehabilitation medicine 2015; (47(2)):147-53 doi:10.2340/16501977-1909.

Intrathecal Baclofen therapy in Germany: Proceedings of the IAB-Interdisciplinary Working Group for Movement Disorders Consensus Meeting.

Dressler D, Berweck S, Chatzikalfas A, et al.

Journal of neural transmission (Vienna, Austria : 1996) 2015; (122(11)):1573-9 doi:10.1007/s00702-015-1425-1.

RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself.

Liddicoat BJ, Piskol R, Chalk AM, et al.

Science (New York, N.Y.) 2015; (349(6252)):1115-20 doi:10.1126/science.aac7049.

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.

Zhang G, Shao M, Li Z, et al.

BMC medical genetics 2016; (17()):14 doi:10.1186/s12881-015-0255-1.

Reactivation of Pulmonary Tuberculosis following Treatment of Myelofibrosis with Ruxolitinib.

Abidi MZ, Haque J, Varma P, et al.

Case reports in hematology 2016; (2016()):2389038 doi:10.1155/2016/2389038.

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.

Piekutowska-Abramczuk D, Mierzewska H, Bekiesińska-Figatowska M, et al.

Folia neuropathologica 2016; (54(4)):405-409 doi:10.5114/fn.2016.64819.

The emerging safety profile of JAK inhibitors in rheumatic disease.

Winthrop KL

Nature reviews. Rheumatology 2017; (13(4)):234-243 doi:10.1038/nrrheum.2017.23.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, et al.

Neuropediatrics 2017; (48(3)):166-184 doi:10.1055/s-0037-1601449.

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Armangue T, Orsini JJ, Takanohashi A, et al.

Molecular genetics and metabolism 2017; (122(3)):134-139 doi:10.1016/j.ymgme.2017.07.006.

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Schmelzer L, Smitka M, Wolf C, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(1)):186-189 doi:10.1016/j.ejpn.2017.11.003.

Human ADAR1 Prevents Endogenous RNA from Triggering Translational Shutdown.

Chung H, Calis JJA, Wu X, et al.

Cell 2018; (172(4)):811-824.e14 doi:10.1016/j.cell.2017.12.038.

Hereditary spastic paraplegia.

Blackstone C

Handbook of clinical neurology 2018; (148()):633-652 doi:10.1016/B978-0-444-64076-5.00041-7.

Converging cellular themes for the hereditary spastic paraplegias.

Blackstone C

Current opinion in neurobiology 2018; (51()):139-146 doi:10.1016/j.conb.2018.04.025.

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria.

Kobayashi T, Kono M, Suganuma M, et al.

Nagoya journal of medical science 2018; (80(2)):267-277 doi:10.18999/nagjms.80.2.267.

Recurrent Encephalopathy with Spinal Cord Involvement: An Atypical Manifestation of Aicardi-Goutières Syndrome.

Samanta D, Ramakrishnaiah R

Annals of Indian Academy of Neurology 2019; (22(1)):111-115 doi:10.4103/aian.AIAN_12_18.

Stumbling, struggling, and shame due to spasticity: a qualitative study of adult persons with hereditary spastic paraplegia.

Kerstens HCJW, Satink T, Nijkrake MJ, et al.

Disability and rehabilitation 2020; (42(26)):3744-3751 doi:10.1080/09638288.2019.1610084.

Intrathecal Baclofen in Hereditary Spastic Paraparesis.

Pucks-Faes E, Dobesberger J, Hitzenberger G, et al.

Frontiers in neurology 2019; (10()):901 doi:10.3389/fneur.2019.00901.

Developmental Outcomes of Aicardi Goutières Syndrome.

Adang L, Gavazzi F, De Simone M, et al.

Journal of child neurology 2020; (35(1)):7-16 doi:10.1177/0883073819870944.

Cardiac valve involvement in ADAR-related type I interferonopathy.

Crow Y, Keshavan N, Barbet JP, et al.

Journal of medical genetics 2020; (57(7)):475-478 doi:10.1136/jmedgenet-2019-106457.

Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia.

Klimkowicz-Mrowiec A, Dziubek A, Sado M, et al.

BMC neurology 2019; (19(1)):322 doi:10.1186/s12883-019-1561-6.

Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands.

van Lith BJH, Kerstens HCJW, van den Bemd LAC, et al.

Orphanet journal of rare diseases 2020; (15(1)):64 doi:10.1186/s13023-020-1338-4.

Efficacy of a Combined Treatment of Botulinum Toxin and Intensive Physiotherapy in Hereditary Spastic Paraplegia.

Paparella G, Vavla M, Bernardi L, et al.

Frontiers in neuroscience 2020; (14()):111 doi:10.3389/fnins.2020.00111.

Movement disorders in ADAR1 disease: Insights from a comprehensive cohort.

Di Lazzaro G, Graziola F, Sancesario A, et al.

Parkinsonism & related disorders 2020; (79()):100-104 doi:10.1016/j.parkreldis.2020.08.039.

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.

Rattay TW, Rautenberg M, Söhn AS, et al.

Scientific reports 2020; (10(1)):15093 doi:10.1038/s41598-020-71248-8.

Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India.

Sathishkumar D, Muthusamy K, Gupta A, et al.

Clinical and experimental dermatology 2021; (46(4)):704-709 doi:10.1111/ced.14531.

Hepatic Involvement in Aicardi-Goutières Syndrome.

Gavazzi F, Cross ZM, Woidill S, et al.

Neuropediatrics 2021; (52(6)):441-447 doi:10.1055/s-0040-1722673.

ADAR RNA Modifications, the Epitranscriptome and Innate Immunity.

Quin J, Sedmík J, Vukić D, et al.

Trends in biochemical sciences 2021; (46(9)):758-771 doi:10.1016/j.tibs.2021.02.002.

Adenosine Deaminases Acting on RNA (ADARs) and Viral Infections.

Pfaller CK, George CX, Samuel CE

Annual review of virology 2021; (8(1)):239-264 doi:10.1146/annurev-virology-091919-065320.

ADAR1 interaction with Z-RNA promotes editing of endogenous double-stranded RNA and prevents MDA5-dependent immune activation.

de Reuver R, Dierick E, Wiernicki B, et al.

Cell reports 2021; (36(6)):109500 doi:10.1016/j.celrep.2021.109500.

Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.

Jones HF, Stoll M, Ho G, et al.

Brain & development 2022; (44(2)):153-160 doi:10.1016/j.braindev.2021.10.001.

Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation.

Cattalini M, Galli J, Zunica F, et al.

Frontiers in pediatrics 2021; (9()):725868 doi:10.3389/fped.2021.725868.

The use of intrathecal baclofen for management of spasticity in hereditary spastic paraparesis: A case series.

Pointon R, Whelan H, Raza R, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022; (36()):14-18 doi:10.1016/j.ejpn.2021.11.003.

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Méreaux JL, Banneau G, Papin M, et al.

Brain : a journal of neurology 2022; (145(3)):1029-1037 doi:10.1093/brain/awab386.

Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.

Padmanabha H, Mahale R, Christopher R, et al.

Annals of Indian Academy of Neurology 2021; (24(6)):908-916 doi:10.4103/aian.AIAN_223_21.

Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Teive HAG, Camargo CHF, Pereira ER, et al.

Neurogenetics 2022; (23(3)):167-177 doi:10.1007/s10048-022-00688-3.

Designing rare disease care pathways in the Republic of Ireland: a co-operative model.

Ward AJ, Murphy D, Marron R, et al.

Orphanet journal of rare diseases 2022; (17(1)):162 doi:10.1186/s13023-022-02309-6.

Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.

Wang W, Wang W, He TY, et al.

World journal of pediatrics : WJP 2022; (18(7)):490-497 doi:10.1007/s12519-022-00545-1.

Hematologic abnormalities in Aicardi Goutières Syndrome.

Adang LA, Gavazzi F, D'Aiello R, et al.

Molecular genetics and metabolism 2022; (136(4)):324-329 doi:10.1016/j.ymgme.2022.06.003.

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

Liu L, Zhang L, Huang P, et al.

Frontiers in pediatrics 2022; (10()):852903 doi:10.3389/fped.2022.852903.

The RNA-editing enzyme ADAR1: a regulatory hub that tunes multiple dsRNA-sensing pathways.

Nakahama T, Kawahara Y

International immunology 2023; (35(3)):123-133 doi:10.1093/intimm/dxac056.

Severe ARDS due to Ruxolitinib discontinuation syndrome: case presentation and literature review.

Houthuys JF, Wilmer AP, Peetermans M, et al.

Heliyon 2022; (8(12)):e11782 doi:10.1016/j.heliyon.2022.e11782.

Identification of ADAR1 p150 and p110 Associated Edit Sites.

Sun T, Rosenberg BR, Chung H, Rice CM

Methods in molecular biology (Clifton, N.J.) 2023; (2651()):285-294 doi:10.1007/978-1-0716-3084-6_20.

Adar-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis.

van Toorn R, van Niekerk M, Moosa S, et al.

BMJ case reports 2023; (16(3)) doi:10.1136/bcr-2022-252436.

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.

Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, et al.

Neurologia 2023; (38(6)):379-386 doi:10.1016/j.nrleng.2023.04.003.

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.

Frémond ML, Hully M, Fournier B, et al.

Journal of clinical immunology 2023; (43(6)):1436-1447 doi:10.1007/s10875-023-01500-z.

Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.

Liu X, Lei M, Xue Y, et al.

Biochemical genetics 2024; (62(3)):1811-1826 doi:10.1007/s10528-023-10488-5.

The therapeutic effects of physical treatment for patients with hereditary spastic paraplegia: a narrative review.

Di Ludovico A, Ciarelli F, La Bella S, et al.

Frontiers in neurology 2023; (14()):1292527 doi:10.3389/fneur.2023.1292527.

Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.

Chojdak-Łukasiewicz J, Sulima K, Zimny A, et al.

International journal of molecular sciences 2023; (24(24)) doi:10.3390/ijms242417530.

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management.

Awuah WA, Tan JK, Shkodina AD, et al.

SAGE open medicine 2024; (12()):20503121231221941 doi:10.1177/20503121231221941.

Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.

Garcia L, Gonzalez CD, Gagne A, et al.

Stem cell research 2024; (74()):103299 doi:10.1016/j.scr.2023.103299.

Impact of Disease-Associated Mutations on the Deaminase Activity of ADAR1.

Karki A, Campbell KB, Mozumder S, et al.

Biochemistry 2024; (63(3)):282-293 doi:10.1021/acs.biochem.3c00405.

Intrathecal baclofen for the management of hereditary spastic paraparesis: a systematic review.

Viana Pinto L, Romeiro I, Gouveia F, et al.

International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation 2024; (47(1)):3-9 doi:10.1097/MRR.0000000000000607.

Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).

de Barcelos IP, Woidill S, Gavazzi F, et al.

Molecular genetics and metabolism 2024; (142(1)):108346 doi:10.1016/j.ymgme.2024.108346.

Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia.

Ibrahim AA, Ollenschläger M, Klebe S, et al.

European journal of neurology 2024; (31(8)):e16367 doi:10.1111/ene.16367.

Systemic complications of Aicardi Goutières syndrome using real-world data.

Peixoto de Barcelos I, Jan AK, Modesti N, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108578 doi:10.1016/j.ymgme.2024.108578.

Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.

Gabaldon-Albero A, Martin-Grau C, Marti-Masanet M, et al.

Pediatric rheumatology online journal 2024; (22(1)):110 doi:10.1186/s12969-024-01036-5.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Mania-Pâris L, Ewenczyk C, Nicolas G, et al.

Revue neurologique 2025; (181(6)):471-482 doi:10.1016/j.neurol.2025.05.001.

The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland.

Jeyakumar H, Chandan JS, Nirantharakumar K, Lee SI

Orphanet journal of rare diseases 2025; (20(1)):326 doi:10.1186/s13023-025-03849-3.

Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.

Bauer AK, Marquardt I, Sundermann B, et al.

Frontiers in immunology 2025; (16()):1453496 doi:10.3389/fimmu.2025.1453496.

Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.

Yoo H, Nakahama T, Sugihara R, et al.

Cell reports 2026; (45(4)):117113 doi:10.1016/j.celrep.2026.117113.

Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Marinella G, Vaia Y, Politano D, et al.

Molecular genetics and metabolism 2026; (148(2)):109907 doi:10.1016/j.ymgme.2026.109907.

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.

Chang MC, Yang S

The Journal of international medical research 2026; (54(3)):3000605261431607 doi:10.1177/03000605261431607.

[Epidural spinal cord stimulation in hereditary spastic paraplegia: preliminary results].

Akinfiev VM, Simonyan AS, Gushcha AO, Krylov VV

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko 2026; (90(2)):62-69 doi:10.17116/neiro20269002162.

Coexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient Cardiomyopathy.

Draidi T, Khalil M, Kabaha A, et al.

Case reports in endocrinology 2026; (2026()):5534847 doi:10.1155/crie/5534847.

Early brain-penetrant immunotherapy reverses interferon signature and improves motor outcome in a case of ADAR1-related Aicardi-Goutières syndrome.

Dale RC, Hayes J, Han VX, et al.

Clinical & translational immunology 2026; (15(7)):e70113 doi:10.1002/cti2.70113.

Case of Aicardi-Goutières syndrome diagnosed in adulthood on whole-genome sequencing.

Cobb L, Kumar J, Roy A, et al.

BMJ neurology open 2026; (8(2)):e001407 doi:10.1136/bmjno-2025-001407.

Hereditary spastic paraplegia: a practical approach.

Bradley M, Kalfat A, Walsh RA, et al.

Practical neurology 2026; doi:10.1136/pn-2026-005344.

Rehabilitation management of children with hereditary spastic paraplegia: a retrospective cohort study.

Paget SP, McIntyre S, Lewis J, et al.

Developmental neurorehabilitation 2026; 1-8 doi:10.1080/17518423.2026.2738682.

Inherited metabolic diseases mimicking hereditary spastic paraplegia: a cohort of ten Egyptian patients.

Khalifa OA, Youssef TM, Mahmoud RG

Frontiers in genetics 2026; (17()):1963118 doi:10.3389/fgene.2026.1963118.