Research & Literature

Neurodegeneration with brain iron accumulation.

Gregory A, Hayflick SJ

Folia neuropathologica 2005; (43(4)):286-96.

A pre-test and post-test study of the physical and psychological effects of out-of-home respite care on caregivers of children with life-threatening conditions.

Remedios C, Willenberg L, Zordan R, et al.

Palliative medicine 2015; (29(3)):223-30 doi:10.1177/0269216314560008.

The Crystal Structure of an Integral Membrane Fatty Acid α-Hydroxylase.

Zhu G, Koszelak-Rosenblum M, Connelly SM, et al.

The Journal of biological chemistry 2015; (290(50)):29820-33 doi:10.1074/jbc.M115.680124.

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Ebrahimi-Fakhari D, Saffari A, Wahlster L, et al.

Brain : a journal of neurology 2016; (139(Pt 2)):317-37 doi:10.1093/brain/awv371.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E, Tucci A, Manzoni C, et al.

Brain : a journal of neurology 2016; (139(Pt 7)):1904-18 doi:10.1093/brain/aww111.

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.

Soehn AS, Rattay TW, Beck-Wödl S, et al.

Neurology 2016; (87(2)):186-91 doi:10.1212/WNL.0000000000002843.

Metachromatic Leukodystrophy: An Assessment of Disease Burden.

Eichler FS, Cox TM, Crombez E, et al.

Journal of child neurology 2016; (31(13)):1457-1463 doi:10.1177/0883073816656401.

Bone Densitometry in Children and Adolescents.

Bachrach LK, Gordon CM,

Pediatrics 2016; (138(4)).

Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia.

Nonnekes J, van Lith B, van de Warrenburg BP, et al.

Journal of rehabilitation medicine 2017; (49(5)):369-377 doi:10.2340/16501977-2227.

Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

Dastsooz H, Nemati H, Fard MAF, et al.

BMC medical genetics 2017; (18(1)):87 doi:10.1186/s12881-017-0439-y.

Neurodegeneration with brain iron accumulation.

Hayflick SJ, Kurian MA, Hogarth P

Handbook of clinical neurology 2018; (147()):293-305 doi:10.1016/B978-0-444-63233-3.00019-1.

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Mari F, Berti B, Romano A, et al.

Neurogenetics 2018; (19(2)):123-130 doi:10.1007/s10048-018-0538-8.

Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report.

Do HK, Jo GY, Kwon JK, Kim WJ

Annals of rehabilitation medicine 2018; (42(2)):363-367 doi:10.5535/arm.2018.42.2.363.

C. Elegans Fatty Acid Two-Hydroxylase Regulates Intestinal Homeostasis by Affecting Heptadecenoic Acid Production.

Li Y, Wang C, Huang Y, et al.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018; (49(3)):947-960 doi:10.1159/000493226.

Delivering Pediatric Palliative Care: From Denial, Palliphobia, Pallilalia to Palliactive.

Friedrichsdorf SJ, Bruera E

Children (Basel, Switzerland) 2018; (5(9)) doi:10.3390/children5090120.

Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35.

Marelli C, Salih MA, Nguyen K, et al.

Movement disorders clinical practice 2015; (2(1)):56-60 doi:10.1002/mdc3.12118.

Hereditary spastic paraplegia type 35 in a family from Mali.

Landouré G, Dembélé K, Cissé L, et al.

American journal of medical genetics. Part A 2019; (179(7)):1122-1125 doi:10.1002/ajmg.a.61179.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW, Lindig T, Baets J, et al.

Brain : a journal of neurology 2019; (142(6)):1561-1572 doi:10.1093/brain/awz102.

Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.

Marshall RD, Collins A, Escolar ML, et al.

Orphanet journal of rare diseases 2019; (14(1)):174 doi:10.1186/s13023-019-1142-1.

Core outcome domains of pediatric palliative care for children with severe neurological impairment and their families: A qualitative interview study.

Ribbers S, Wager J, Hartenstein-Pinter A, et al.

Palliative medicine 2020; (34(3)):309-318 doi:10.1177/0269216319885818.

Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration.

Kawaguchi M, Sassa T, Kidokoro H, et al.

Brain & development 2020; (42(2)):217-221 doi:10.1016/j.braindev.2019.11.006.

Shifting Tides Toward a Proactive Patient-Centered Approach in Dysphagia Management of Neurodegenerative Disease.

Rogus-Pulia NM, Plowman EK

American journal of speech-language pathology 2020; (29(2S)):1094-1109 doi:10.1044/2020_AJSLP-19-00136.

Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.

Keller SR, Mallack EJ, Rubin JP, et al.

Journal of child neurology 2021; (36(1)):65-78 doi:10.1177/0883073820946154.

Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35.

Hardt R, Jordans S, Winter D, et al.

Human molecular genetics 2021; (29(22)):3616-3630 doi:10.1093/hmg/ddaa246.

Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.

McInerney-Leo AM, Duncan EL

Frontiers in endocrinology 2020; (11()):628946 doi:10.3389/fendo.2020.628946.

Childhood-onset hereditary spastic paraplegia and its treatable mimics.

Ebrahimi-Fakhari D, Saffari A, Pearl PL

Molecular genetics and metabolism 2022; (137(4)):436-444 doi:10.1016/j.ymgme.2021.06.006.

Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1-2 years after initial analysis.

Liu Y, Teng Y, Li Z, et al.

Clinica chimica acta; international journal of clinical chemistry 2021; (523()):163-168 doi:10.1016/j.cca.2021.09.015.

Care practices of specialized outpatient pediatric palliative care teams in collaboration with parents: Results of participatory observations.

Schuetze D, Ploeger C, Hach M, et al.

Palliative medicine 2022; (36(2)):386-394 doi:10.1177/02692163211065294.

Infantile onset ascending hereditary spastic paralysis.

Eltoum A, O'Rourke D, Sharif F

BMJ case reports 2022; (15(1)) doi:10.1136/bcr-2020-240941.

Deep Brain Stimulation (DBS) with Subthalamic Nucleus (STN) as Target for Pediatric Patients with PKAN.

Li H, Li D, Yang W, et al.

World neurosurgery 2022; (163()):e317-e322 doi:10.1016/j.wneu.2022.03.130.

Age-Dependent Increase in Schmidt-Lanterman Incisures and a Cadm4-Associated Membrane Skeletal Complex in Fatty Acid 2-hydroxylase Deficient Mice: a Mouse Model of Spastic Paraplegia SPG35.

Jordans S, Hardt R, Becker I, et al.

Molecular neurobiology 2022; (59(7)):3969-3979 doi:10.1007/s12035-022-02832-4.

Effect of standing frames used in real life on bone remodeling in non-walking children with cerebral palsy.

Barbier V, Goëb V, Klein C, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2022; (33(9)):2019-2025 doi:10.1007/s00198-022-06436-5.

Percutaneous endoscopic gastrostomy and jejunostomy: Indications and techniques.

Fugazza A, Capogreco A, Cappello A, et al.

World journal of gastrointestinal endoscopy 2022; (14(5)):250-266 doi:10.4253/wjge.v14.i5.250.

Palliative and Critical Care: Their Convergence in the Pediatric Intensive Care Unit.

Buang SNH, Loh SW, Mok YH, et al.

Frontiers in pediatrics 2022; (10()):907268 doi:10.3389/fped.2022.907268.

A Systematic Review of Augmentative and Alternative Communication Interventions for Children Aged From 0 to 6 Years.

Leonet O, Orcasitas-Vicandi M, Langarika-Rocafort A, et al.

Language, speech, and hearing services in schools 2022; (53(3)):894-920 doi:10.1044/2022_LSHSS-21-00191.

A recent survey of augmentative and alternative communication use and service delivery experiences of people with amyotrophic lateral sclerosis in the United States.

Peters B, O'Brien K, Fried-Oken M

Disability and rehabilitation. Assistive technology 2024; (19(4)):1121-1134 doi:10.1080/17483107.2022.2149866.

A new model for fatty acid hydroxylase-associated neurodegeneration reveals mitochondrial and autophagy abnormalities.

Mandik F, Kanana Y, Rody J, et al.

Frontiers in cell and developmental biology 2022; (10()):1000553 doi:10.3389/fcell.2022.1000553.

Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.

Eckhardt M

International journal of molecular sciences 2023; (24(5)) doi:10.3390/ijms24054908.

Clinical, imaging and genetic profile of twenty-four patients with pantothenate kinase-associated neurodegeneration (PKAN)- A single centre study from India.

Sriram N, Holla VV, Kumari R, et al.

Parkinsonism & related disorders 2023; (111()):105409 doi:10.1016/j.parkreldis.2023.105409.

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.

The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.

Hashemi N, Abadi RNS, Alavi A, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023; (44(12)):4359-4362 doi:10.1007/s10072-023-06932-4.

Treatment of Pantothenate-Kinase Neurodegeneration With Baclofen, Botulinum Toxin, and Deferiprone: A Case Report.

Hameed M, Siddiqui F, Khan MK, et al.

Brain & NeuroRehabilitation 2023; (16(3)):e25 doi:10.12786/bn.2023.16.e25.

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).

German A, Jukic J, Laner A, et al.

Genes 2023; (15(1)) doi:10.3390/genes15010014.

Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.

Cao Y, Zheng H, Zhu Z, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(4)):651-662 doi:10.1002/mds.29728.

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

Kilic MA, Yildiz EP, Deniz A, et al.

Pediatric neurology 2024; (152()):189-195 doi:10.1016/j.pediatrneurol.2024.01.005.

A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.

Mo L, Tie X, Che F, et al.

Pediatric neurology 2024; (152()):200-208 doi:10.1016/j.pediatrneurol.2023.12.031.

Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.

Engin Erdal A, Yürek B, Kıreker Köylü O, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(3)):271-275 doi:10.1515/jpem-2023-0481.

A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease.

Al-Attar M, Butterworth S, McKay L

Orphanet journal of rare diseases 2024; (19(1)):172 doi:10.1186/s13023-024-03143-8.

Comprehensive assessment and treatment strategies for dysphagia in the elderly population: Current status and prospects.

Hu X, Ma YN, Karako K, et al.

Bioscience trends 2024; (18(2)):116-126 doi:10.5582/bst.2024.01100.

Telemedicine in nutritional management of children with severe neurological impairment: implication for quality of life.

Tagi VM, Eletti F, Dolor J, et al.

Frontiers in nutrition 2024; (11()):1452880 doi:10.3389/fnut.2024.1452880.

Vitamin D prophylaxis in persons with epilepsy?

Sourbron J, Auvin S, Cabral-Lim L, et al.

Epilepsia 2024; (65(9)):2567-2579 doi:10.1111/epi.18046.

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.

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.

[FA2H gene-associated spastic paraplegia (SPG35) - familial case with late onset].

Rudenskaya GE, Bostanova FM, Zabnenkova VV, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2025; (125(5)):137-144 doi:10.17116/jnevro2025125051137.

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.

Neurodegeneration with Brain Iron Accumulation.

Schipper DA, Schipper HM

Advances in experimental medicine and biology 2025; (1480()):291-309 doi:10.1007/978-3-031-92033-2_19.

The impact of leukodystrophies on parents' lives.

Zampini L, Cordolcini L, Draghi L, et al.

Journal of pediatric psychology 2025; (50(12)):1091-1098 doi:10.1093/jpepsy/jsaf072.

Disrupted Myelination in FAHN: Insights from a Patient-Specific hiPSC Neuron-Oligodendrocyte Model.

Efendic F, Hermann A, Frech MJ

Cells 2025; (14(16)) doi:10.3390/cells14161261.

An atypical case of FA2H-related HSP35 with subtle neuroimaging findings and a novel variant in a young adult with spastic paraparesis.

Roy S, Mailankody P, Arunachal G, et al.

Acta neurologica Belgica 2026; (126(1)):277-281 doi:10.1007/s13760-025-02899-5.

Fractures in Children With Cerebral Palsy: A Systematic Review.

Bentley LA, Taylor MJ, Brookes DSK, et al.

Pediatrics 2026; (157(1)) doi:10.1542/peds.2025-072946.

Clinical, Radiological, and Genetic Profile of Patients with FA2H-Associated Neurodegeneration: Eight Cases from India and a Review of the Literature.

Holla VV, Kumari R, Sriram N, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2026; (16()):15 doi:10.5334/tohm.1162.

Deep brain stimulation for the treatment of paediatric dystonia due to neuroanatomical abnormalities: a systematic review of efficacy and future perspectives.

Soliman Y, Figliomeni A, Lee H, et al.

BMJ neurology open 2026; (8(1)):e001543 doi:10.1136/bmjno-2025-001543.

Beyond standard care: Fathers' perspectives on healthcare and related support services when caring for a child with a progressive life-limiting condition-A qualitative study.

Sjuls M, Ludvigsen MS, Fegran L, Robstad N

Palliative medicine 2026; 2692163261486220 doi:10.1177/02692163261486220.

A Rare Case of Fatty Acid Hydroxylase-Associated Neurodegeneration in a Pakistani Boy With a Homozygous FA2H Variant.

Siddiqui AN, Siddiqui YN, Abbasi NUH, et al.

Clinical case reports 2026; (14(10)):e73559 doi:10.1002/ccr3.73559.

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.