Research & Literature

Percutaneous endoscopic gastrostomy versus nasogastric tube feeding for adults with swallowing disturbances.

Gomes CA, Andriolo RB, Bennett C, et al.

The Cochrane database of systematic reviews 2015; CD008096 doi:10.1002/14651858.CD008096.pub4.

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.

Lossos A, Elazar N, Lerer I, et al.

Brain : a journal of neurology 2015; (138(Pt 9)):2521-36 doi:10.1093/brain/awv204.

Hypomyelinating disorders: An MRI approach.

Barkovich AJ, Deon S

Neurobiology of disease 2016; (87()):50-8.

Play-based procedural preparation and support intervention for cranial radiation.

Grissom S, Boles J, Bailey K, et al.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2016; (24(6)):2421-7 doi:10.1007/s00520-015-3040-y.

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Tonduti D, Aiello C, Renaldo F, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016; (20(2)):323-330 doi:10.1016/j.ejpn.2015.11.006.

Diffuse hypomyelination is not obligate for POLR3-related disorders.

La Piana R, Cayami FK, Tran LT, et al.

Neurology 2016; (86(17)):1622-6 doi:10.1212/WNL.0000000000002612.

[A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review].

Du Y, Li C, Guo J, et al.

Zhonghua nei ke za zhi 2017; (56(6)):433-437 doi:10.3760/cma.j.issn.0578-1426.2017.06.009.

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

Curiel J, Rodríguez Bey G, Takanohashi A, et al.

Human molecular genetics 2017; (26(22)):4506-4518 doi:10.1093/hmg/ddx338.

Pharmacological and neurosurgical interventions for managing dystonia in cerebral palsy: a systematic review.

Fehlings D, Brown L, Harvey A, et al.

Developmental medicine and child neurology 2018; (60(4)):356-366 doi:10.1111/dmcn.13652.

Standard Polymeric Formula Tube Feeding in Neurologically Impaired Children: A Five-Year Retrospective Study.

Dipasquale V, Catena MA, Cardile S, Romano C

Nutrients 2018; (10(6)) doi:10.3390/nu10060684.

Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.

Vulinovic F, Krajka V, Hausrat TJ, et al.

Human mutation 2018; (39(12)):1901-1915 doi:10.1002/humu.23602.

A systematic review of interventions to reduce psychological distress in pediatric patients receiving radiation therapy.

O'Connor M, Halkett GK

Patient education and counseling 2019; (102(2)):275-283 doi:10.1016/j.pec.2018.09.023.

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

Joyal KM, Michaud J, van der Knaap MS, et al.

Journal of neuropathology and experimental neurology 2019; (78(1)):3-9 doi:10.1093/jnen/nly105.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Ashrafi MR, Amanat M, Garshasbi M, et al.

Expert review of neurotherapeutics 2020; (20(1)):65-84 doi:10.1080/14737175.2020.1699060.

POLR3A variants with striatal involvement and extrapyramidal movement disorder.

Harting I, Al-Saady M, Krägeloh-Mann I, et al.

Neurogenetics 2020; (21(2)):121-133 doi:10.1007/s10048-019-00602-4.

Geographic and Specialty Access Disparities in US Pediatric Leukodystrophy Diagnosis.

Grineski S, Morales DX, Collins T, et al.

The Journal of pediatrics 2020; (220()):193-199 doi:10.1016/j.jpeds.2020.01.063.

TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model.

Sase S, Almad AA, Boecker CA, et al.

eLife 2020; (9()).

Auditory impairment in H-ABC tubulinopathy.

Lopez-Juarez A, Gonzalez-Vega A, Kleinert-Altamirano A, et al.

The Journal of comparative neurology 2021; (529(5)):957-968 doi:10.1002/cne.24990.

Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome.

Hickey SE, Kellogg B, O'Brien M, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020; (57(12)):1362-1369 doi:10.1177/1055665620947985.

T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy.

Martin P, Hagberg GE, Schultz T, et al.

Clinical neuroradiology 2021; (31(4)):969-980 doi:10.1007/s00062-020-00975-2.

Hypomyelinating leukodystrophies - unravelling myelin biology.

Wolf NI, Ffrench-Constant C, van der Knaap MS

Nature reviews. Neurology 2021; (17(2)):88-103 doi:10.1038/s41582-020-00432-1.

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

Yan H, Ji H, Kubisiak T, et al.

Journal of human genetics 2021; (66(8)):761-768 doi:10.1038/s10038-020-00896-5.

Intrathecal baclofen, selective dorsal rhizotomy, and extracorporeal shockwave therapy for the treatment of spasticity in cerebral palsy: a systematic review.

Kudva A, Abraham ME, Gold J, et al.

Neurosurgical review 2021; (44(6)):3209-3228 doi:10.1007/s10143-021-01550-0.

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.

Knuutinen OA, Oikarainen JH, Suo-Palosaari MH, et al.

Developmental medicine and child neurology 2021; (63(9)):1066-1074 doi:10.1111/dmcn.14884.

An Integrated Care Strategy for Pre-schoolers with Suspected Developmental Disorders: The Optimus Co-design Project that has Made it to Regular Care.

Sarkadi A, Dahlberg A, Leander K, et al.

International journal of integrated care 2021; (21(2)):3 doi:10.5334/ijic.5494.

Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model.

Alata M, González-Vega A, Piazza V, et al.

Frontiers in neurology 2021; (12()):702039 doi:10.3389/fneur.2021.702039.

Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy.

Gavazzi F, Charsar BA, Williams C, et al.

Journal of child neurology 2021; (36(10)):805-811 doi:10.1177/08830738211000977.

In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.

Fellner A, Goldberg Y, Lev D, et al.

Scientific reports 2022; (12(1)):58 doi:10.1038/s41598-021-04337-x.

H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.

Krajka V, Vulinovic F, Genova M, et al.

Science advances 2022; (8(10)):eabj9229 doi:10.1126/sciadv.abj9229.

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.

Hashiguchi M, Monden Y, Nozaki Y, et al.

Human genome variation 2022; (9(1)):19 doi:10.1038/s41439-022-00198-6.

Functional Investigation of TUBB4A Variants Associated with Different Clinical Phenotypes.

Xiao H, He H, Wu T, et al.

Molecular neurobiology 2022; (59(8)):5056-5069 doi:10.1007/s12035-022-02900-9.

DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review.

Bally JF, Kern DS, Fearon C, et al.

Movement disorders clinical practice 2022; (9(5)):659-675 doi:10.1002/mdc3.13452.

Experiences of medical traumatic stress in parents of children with medical complexity.

Dewan T, Birnie K, Drury J, et al.

Child: care, health and development 2023; (49(2)):292-303 doi:10.1111/cch.13042.

A trained communication partner's use of responsive strategies in aided communication with three adults with Rett syndrome: A case report.

Wandin H, Lindberg P, Sonnander K

Frontiers in psychology 2022; (13()):989319 doi:10.3389/fpsyg.2022.989319.

Gut dysmotility in children with neurological impairment: the nutritional management.

Corsello A, Scatigno L, Govoni A, et al.

Frontiers in neurology 2023; (14()):1200101 doi:10.3389/fneur.2023.1200101.

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.

Yazdani PA, St-Jean ML, Matovic S, et al.

Journal of child neurology 2023; (38(5)):329-335 doi:10.1177/08830738231176672.

Utility of genetic testing in children with leukodystrophy.

Zerem A, Libzon S, Ben Sira L, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2023; (45()):29-35 doi:10.1016/j.ejpn.2023.05.008.

Deep brain stimulation in an adolescent with hypomyelination with atrophy of the basal ganglia and cerebellum due to a TUBB4A mutation: illustrative case.

MacLean JA, Nataraj J, Olaya J, et al.

Journal of neurosurgery. Case lessons 2023; (6(2)).

Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.

Gavazzi F, Patel V, Charsar B, et al.

Journal of child neurology 2023; (38(8-9)):498-504 doi:10.1177/08830738231188159.

Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.

Ben Jdila M, Kammoun F, Abdelmaksoud-Dammak R, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2023; (83(6)):532-545 doi:10.1002/jdn.10284.

Calcification of the pump pouch in patients receiving ITB therapy: A rare complication affecting refill procedure - Analysis of two cases.

Pavanello M, Ronchetti A, Barretta I, et al.

Clinical neurology and neurosurgery 2023; (233()):107949 doi:10.1016/j.clineuro.2023.107949.

Update on leukodystrophies and developing trials.

Ceravolo G, Zhelcheska K, Squadrito V, et al.

Journal of neurology 2024; (271(1)):593-605 doi:10.1007/s00415-023-11996-5.

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Garg D, Holla VV, Ganguly J, et al.

Parkinsonism & related disorders 2024; (124()):107012 doi:10.1016/j.parkreldis.2024.107012.

Perioperative Management in Neuromuscular Diseases: A Narrative Review.

Bhat A, Dean J, Aboussouan LS

Journal of clinical medicine 2024; (13(10)) doi:10.3390/jcm13102963.

Spina bifida transition care in India: strengths amidst challenges.

Udayakumaran S, Manda VV, Kedia S, et al.

Neurosurgical focus 2024; (57(2)):E5 doi:10.3171/2024.6.FOCUS24266.

Developmental Delay, Hypomyelination, and Nystagmus: Case and Approach.

Ramanzini LG, Frare JM, Lopes TF, Fighera MR

Neuro-ophthalmology (Aeolus Press) 2024; (48(5)):369-372 doi:10.1080/01658107.2024.2329120.

An Algorithmic Approach to MR Imaging of Hypomyelinating Leukodystrophies.

Sharma S, Sundaram S, Kesavadas C, Thomas B

Journal of magnetic resonance imaging : JMRI 2025; (61(4)):1531-1551 doi:10.1002/jmri.29558.

Overview of Neuro-Ophthalmic Findings in Leukodystrophies.

Bettinger CM, Dulz S, Atiskova Y, et al.

Journal of clinical medicine 2024; (13(17)) doi:10.3390/jcm13175114.

Approaches to diagnosis for individuals with a suspected inherited white matter disorder.

Helman G, Orthmann-Murphy JL, Vanderver A

Handbook of clinical neurology 2024; (204()):21-35 doi:10.1016/B978-0-323-99209-1.00009-0.

Rare forms of hypomyelination and delayed myelination.

Mura E, Parazzini C, Tonduti D

Handbook of clinical neurology 2024; (204()):225-252 doi:10.1016/B978-0-323-99209-1.00002-8.

MRI pattern recognition in white matter disease.

Wolf NI, Engelen M, van der Knaap MS

Handbook of clinical neurology 2024; (204()):37-50 doi:10.1016/B978-0-323-99209-1.00019-3.

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.

Gavazzi F, Charsar B, Hamilton E, et al.

Molecular genetics and metabolism 2025; (144(3)):109048 doi:10.1016/j.ymgme.2025.109048.

POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.

Le A, Thibault KA, Yazdani PA, et al.

Pediatric neurology 2025; (166()):81-87 doi:10.1016/j.pediatrneurol.2025.02.011.

Magnetic resonance imaging and spectroscopy in hypomyelinating leukodystrophy.

Takanashi JI

Brain & development 2025; (47(3)):104345 doi:10.1016/j.braindev.2025.104345.

Between Anxiety and Adaptation: Children's and Parents' Experiences with Botulinum Toxin Treatment in Cerebral Palsy.

Sæther R, Brændvik SM, Elvrum AG

Journal of clinical medicine 2025; (14(9)) doi:10.3390/jcm14093164.

Perspectives: Mental health challenges and medical trauma: focus on cystinosis patients and caregivers.

Doyle MH, Meschke C

Frontiers in pediatrics 2025; (13()):1592513 doi:10.3389/fped.2025.1592513.

Prescribing Assistive Technology: Focus on Children With Complex Communication Needs: Clinical Report.

Desch LW, Hobart-Porter LJ, Houtrow A,

Pediatrics 2025; (156(1)) doi:10.1542/peds.2025-072216.

[Expert consensus on the diagnosis and treatment of sleep-disordered breathing related to neuromuscular diseases].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases 2025; (48(9)):815-830 doi:10.3760/cma.j.cn112147-20250614-00332.

Posttraumatic Stress in Parents of Hospitalized Children With Medical Complexity.

Dewan T, Whiteley A, Birnie K, et al.

Hospital pediatrics 2025; (15(11)):921-931 doi:10.1542/hpeds.2025-008390.

Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective.

Gavazzi F, Patel V, Erler JA, et al.

Pediatric neurology 2025; (173()):156-165 doi:10.1016/j.pediatrneurol.2025.09.019.

Impact of HLD6-associated TUBB4A mutant proteins on cell morphogenesis.

Kasamatsu Y, Tanaka M, Minegishi M, et al.

BMC research notes 2025; (18(1)):449 doi:10.1186/s13104-025-07537-0.

The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.

Le A, Thibault KA, Yazdani PA, et al.

Pediatric neurology 2026; (176()):31-40 doi:10.1016/j.pediatrneurol.2025.12.004.

Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy.

Sase S, Hacker JL, Napit PR, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2026; (34(5)):2923-2943 doi:10.1016/j.ymthe.2026.01.016.

Rigorous genetic diagnosis review in natural history studies.

Pizzino A, Arnold K, Wiener E, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.

Karandikar S, Sevagamoorthy A, Zimmerman D, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.05.22.26353512.

Generation of three induced pluripotent stem cell lines from individuals with late infantile TUBB4A-associated leukodystrophy caused by a c.1172G > A (p.R391H) de novo mutation in TUBB4A.

Hou Z, Gagne A, Cai J, et al.

Stem cell research 2026; (95()):104063 doi:10.1016/j.scr.2026.104063.