Research & Literature

Neurodegeneration with brain iron accumulation.

Gregory A, Hayflick SJ

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

Pattern of disease progression in atypical form of pantothenate-kinase-associated neurodegeneration (PKAN) - Prospective study.

Tomić A, Petrović I, Svetel M, et al.

Parkinsonism & related disorders 2015; (21(5)):521-4.

Medication use in childhood dystonia.

Lumsden DE, Kaminska M, Tomlin S, Lin JP

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016; (20(4)):625-9.

Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome.

Blommaert D, van Hulst K, Hoogen FJ, et al.

Journal of child neurology 2016; (31(10)):1220-6 doi:10.1177/0883073816650037.

Movement Disorders Presenting in Childhood.

Kurian MA, Dale RC

Continuum (Minneapolis, Minn.) 2016; (22(4 Movement Disorders)):1159-85 doi:10.1212/CON.0000000000000367.

Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN).

Langwinska-Wosko E, Skowronska M, Kmiec T, Czlonkowska A

Journal of the neurological sciences 2016; (370()):237-240 doi:10.1016/j.jns.2016.09.046.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Heimer G, Kerätär JM, Riley LG, et al.

American journal of human genetics 2016; (99(6)):1229-1244 doi:10.1016/j.ajhg.2016.09.021.

Efficacy and safety of oral baclofen in the management of spasticity: A rationale for intrathecal baclofen.

Ertzgaard P, Campo C, Calabrese A

Journal of rehabilitation medicine 2017; (49(3)):193-203 doi:10.2340/16501977-2211.

The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.

Olgiati S, Doğu O, Tufekcioglu Z, et al.

Parkinsonism & related disorders 2017; (39()):64-70 doi:10.1016/j.parkreldis.2017.03.012.

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.

Speech characteristics in the congenital and childhood-onset forms of myotonic dystrophy type 1.

Sjögreen L, Mårtensson Å, Ekström AB

International journal of language & communication disorders 2018; (53(3)):576-583 doi:10.1111/1460-6984.12370.

Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase-Associated Neurodegeneration.

Lee JH, Gregory A, Hogarth P, et al.

AJNR. American journal of neuroradiology 2018; (39(3)):583-588 doi:10.3174/ajnr.A5514.

Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders.

van Egmond ME, Eggink H, Kuiper A, et al.

Journal of clinical movement disorders 2018; (5()):3 doi:10.1186/s40734-018-0070-x.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

McMillan HJ, Telegrafi A, Singleton A, et al.

Orphanet journal of rare diseases 2018; (13(1)):86 doi:10.1186/s13023-018-0825-3.

Dysphagia diagnosis with questionnaire, tongue strength measurement, and FEES in patients with childhood-onset muscular dystrophy.

Printza A, Goutsikas C, Triaridis S, et al.

International journal of pediatric otorhinolaryngology 2019; (117()):198-203 doi:10.1016/j.ijporl.2018.12.005.

Update on current and emerging therapies for dystonia.

Lizarraga KJ, Al-Shorafat D, Fox S

Neurodegenerative disease management 2019; (9(3)):135-147 doi:10.2217/nmt-2018-0047.

The natural history of infantile neuroaxonal dystrophy.

Altuame FD, Foskett G, Atwal PS, et al.

Orphanet journal of rare diseases 2020; (15(1)):109 doi:10.1186/s13023-020-01355-2.

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.

Ng A, Galosi S, Salz L, et al.

BMC neurology 2020; (20(1)):246 doi:10.1186/s12883-020-01798-x.

Baclofen Toxicity in Children With Acute Kidney Injury: Case Reports and Review of the Literature.

Mishaal RA, Lanphear NE, Armarnik E, et al.

Child neurology open 2020; (7()):2329048X20937113 doi:10.1177/2329048X20937113.

[Movement disorders in children].

Gras D

La Revue du praticien 2020; (70(6)):647-652.

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

Ortigoza-Escobar JD

Frontiers in neurology 2020; (11()):582160 doi:10.3389/fneur.2020.582160.

Dysphagia in a Young Man.

Wey JH, Lee JE, Chang KH, et al.

Case reports in neurology 2020; (12(3)):410-415 doi:10.1159/000507242.

Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.

Liu Z, Shimura M, Zhang L, et al.

Mitochondrion 2021; (57()):222-229 doi:10.1016/j.mito.2020.12.014.

Pharmacological and neurosurgical interventions for individuals with cerebral palsy and dystonia: a systematic review update and meta-analysis.

Bohn E, Goren K, Switzer L, et al.

Developmental medicine and child neurology 2021; (63(9)):1038-1050 doi:10.1111/dmcn.14874.

Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.

Wilson JL, Gregory A, Kurian MA, et al.

Developmental medicine and child neurology 2021; (63(12)):1402-1409 doi:10.1111/dmcn.14980.

Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case report

Rangel YA, Espinosa E

Biomedica : revista del Instituto Nacional de Salud 2022; (42(3)):429-434 doi:10.7705/biomedica.6296.

Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases.

Garofalo M, Beudel M, Dijk JM, et al.

Neuropediatrics 2023; (54(1)):44-52 doi:10.1055/a-1959-9088.

Ophthalmic manifestations of MEPAN syndrome.

Gupta PR, Gospe SM

Ophthalmic genetics 2023; (44(5)):469-474 doi:10.1080/13816810.2022.2135112.

Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration.

Papandreou A, Soo AKS, Spaull R, et al.

AJNR. American journal of neuroradiology 2022; (43(12)):1810-1814 doi:10.3174/ajnr.A7693.

An engineered variant of MECR reductase reveals indispensability of long-chain acyl-ACPs for mitochondrial respiration.

Rahman MT, Koski MK, Panecka-Hofman J, et al.

Nature communications 2023; (14(1)):619 doi:10.1038/s41467-023-36358-7.

Mitochondrial optic neuropathies.

Carelli V, La Morgia C, Yu-Wai-Man P

Handbook of clinical neurology 2023; (194()):23-42 doi:10.1016/B978-0-12-821751-1.00010-5.

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.

New avenues for therapy in mitochondrial optic neuropathies.

Ng WSV, Trigano M, Freeman T, et al.

Therapeutic advances in rare disease 2021; (2()):26330040211029037 doi:10.1177/26330040211029037.

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.

Fiorini C, Degiorgi A, Cascavilla ML, et al.

Journal of medical genetics 2023; (61(1)):93-101 doi:10.1136/jmg-2023-109340.

Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.

Iankova V, Sparber P, Rohani M, et al.

Brain : a journal of neurology 2024; (147(4)):1389-1398 doi:10.1093/brain/awad357.

Novel utilization of deep brain stimulation in the pedunculopontine nucleus with globus pallidus internus for treatment of childhood-onset dystonia.

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

Frontiers in human neuroscience 2023; (17()):1270430 doi:10.3389/fnhum.2023.1270430.

Recurrent MECR R258W causes adult-onset optic atrophy: A case report.

Jia N, Yu S, Zhang G, et al.

European journal of medical genetics 2024; (68()):104917 doi:10.1016/j.ejmg.2024.104917.

Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome.

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

Frontiers in neurology 2023; (14()):1307595 doi:10.3389/fneur.2023.1307595.

Exploration of dietary interventions to treat mitochondrial fatty acid disorders in a mouse model.

Autio KJ, Koivisto H, Schmitz W, et al.

The Journal of nutritional biochemistry 2024; (131()):109692 doi:10.1016/j.jnutbio.2024.109692.

C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).

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

European journal of human genetics : EJHG 2025; (33(7)):878-886 doi:10.1038/s41431-024-01778-6.

EASL-ERN Clinical Practice Guidelines on Wilson's disease.

Journal of hepatology 2025; doi:10.1016/j.jhep.2024.11.007.

Mapping dysphagia in pediatric dystonia.

Keles MN, Serdaroglu E

PloS one 2025; (20(6)):e0324140 doi:10.1371/journal.pone.0324140.

A mouse model of MEPAN demonstrates a role for mitochondrial fatty acid synthesis in iron-sulfur cluster and supercomplex formation.

Murdock DG, Janssen KA, Keller K, et al.

Proceedings of the National Academy of Sciences of the United States of America 2025; (122(40)):e2506761122 doi:10.1073/pnas.2506761122.

Clinical Presentations and Treatment of Baclofen Toxicity and Withdrawal: A Systematic Review.

Iqbal M, Modi P, Sehgal K, et al.

CNS drugs 2026; (40(3)):419-449 doi:10.1007/s40263-025-01254-9.

A proposed preintervention framework for neurosurgery in children with medically refractory hypertonia: a scoping review.

Abdelmageed S, Parikh R, Shahin MN, et al.

Journal of neurosurgery. Pediatrics 2026; (37(5)):464-475 doi:10.3171/2025.9.PEDS25351.

Neuropsychiatric manifestations of Wilson's disease.

Cappellari AM, Pozzi M, Nebbia G

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(3)).

Diagnostic value of genetic testing in chorea: a retrospective monocentric study.

Fodor TA, Milenkovic I, Zimprich A, Brücke C

Journal of neurology 2026; (273(7)).