Research & Literature

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

Venco P, Bonora M, Giorgi C, et al.

Frontiers in genetics 2015; (6()):185 doi:10.3389/fgene.2015.00185.

"Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).

Yoganathan S, Sudhakar SV, Thomas M, et al.

Brain & development 2016; (38(5)):516-9.

Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis.

Kim J, Liao YH, Ionita C, et al.

Pediatric neurology 2016; (64()):83-86 doi:10.1016/j.pediatrneurol.2016.08.013.

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.

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN).

Gore E, Appleby BS, Cohen ML, et al.

Neurocase 2016; (22(5)):476-483 doi:10.1080/13554794.2016.1247458.

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.

Skowronska M, Kmiec T, Jurkiewicz E, et al.

Parkinsonism & related disorders 2017; (39()):71-76 doi:10.1016/j.parkreldis.2017.03.013.

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.

Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration.

Skowronska M, Kmiec T, Czlonkowska A, Kurkowska-Jastrzębska I

Clinical neuroradiology 2018; (28(3)):385-392 doi:10.1007/s00062-017-0577-9.

Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review.

Dušek P, Školoudík D, Roth J, Dušek P

Neurocase 2018; (24(3)):161-165 doi:10.1080/13554794.2018.1506038.

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).

Gregory A, Lotia M, Jeong SY, et al.

Molecular genetics & genomic medicine 2019; (7(7)):e00736 doi:10.1002/mgg3.736.

Palliative care in 9 children with neurodegeneration with brain iron accumulation.

Dangel T, Kmieć T, Januszaniec A, Ważny B

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(3)):653-660 doi:10.1007/s10072-019-04099-5.

Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.

Akçakaya NH, Haryanyan G, Mercan S, et al.

Neurologia i neurochirurgia polska 2019; (53(6)):476-483 doi:10.5603/PJNNS.a2019.0062.

Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?

Skowronska M, Buksinska-Lisik M, Kmiec T, et al.

Parkinsonism & related disorders 2020; (80()):15-18 doi:10.1016/j.parkreldis.2020.09.014.

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.

Klopstock T, Videnovic A, Bischoff AT, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(6)):1342-1352 doi:10.1002/mds.28392.

The Downregulation of c19orf12 Negatively Affects Neuronal and Musculature Development in Zebrafish Embryos.

Mignani L, Zizioli D, Borsani G, et al.

Frontiers in cell and developmental biology 2020; (8()):596069 doi:10.3389/fcell.2020.596069.

Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.

Sparber P, Krylova T, Repina S, et al.

Parkinsonism & related disorders 2021; (84()):98-104 doi:10.1016/j.parkreldis.2021.02.002.

Mitochondrial Membrane Protein-Associated Neurodegeneration: A Case Series of Six Children.

Incecik F, Herguner OM, Bisgin A

Annals of Indian Academy of Neurology 2020; (23(6)):802-804 doi:10.4103/aian.AIAN_268_19.

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.

Iankova V, Karin I, Klopstock T, Schneider SA

Frontiers in neurology 2021; (12()):629414 doi:10.3389/fneur.2021.629414.

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.

NBIA Syndromes: A Step Forward from the Previous Knowledge.

Svetel M, Dragašević N, Petrović I, et al.

Neurology India 2021; (69(5)):1380-1388 doi:10.4103/0028-3886.329603.

Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation.

Lefter A, Mitrea I, Mitrea D, et al.

Neurocase 2021; (27(6)):481-483 doi:10.1080/13554794.2021.2022703.

C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration.

Shao C, Zhu J, Ma X, et al.

Free radical biology & medicine 2022; (182()):23-33 doi:10.1016/j.freeradbiomed.2022.02.006.

Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.

Mercan S, Ugur Iseri SA, Yigiter R, et al.

Neurocase 2022; (28(1)):37-41 doi:10.1080/13554794.2021.2022702.

Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein-Associated Neurodegeneration.

Yang Y, Zhang S, Yang W, et al.

Frontiers in genetics 2022; (13()):852374 doi:10.3389/fgene.2022.852374.

A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration.

Chen HY, Lin HI, Hsu CL, et al.

Parkinsonism & related disorders 2023; (109()):105353 doi:10.1016/j.parkreldis.2023.105353.

A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone.

Chen S, Lai X, Fu J, et al.

BMC neurology 2023; (23(1)):134 doi:10.1186/s12883-023-03172-z.

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Angelini C, Durand CM, Fergelot P, et al.

Movement disorders : official journal of the Movement Disorder Society 2023; (38(11)):2103-2115 doi:10.1002/mds.29576.

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.

Rehabilitation for Mitochondrial Membrane Protein-Related Neurodegeneration: A Case Study.

Özçelep ÖF, Turhan A, Fi Dan S, Kandemir S

Cureus 2023; (15(12)):e50540 doi:10.7759/cureus.50540.

Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.

Amini E, Rohani M, Lang AE, et al.

Movement disorders clinical practice 2024; (11(1)):53-62 doi:10.1002/mdc3.13933.

Expanded-access use of elamipretide in a patient with membrane protein-associated neurodegeneration.

Patino J, Clearman AH, Miller L, Koenig MK

Clinical case reports 2024; (12(7)):e9116 doi:10.1002/ccr3.9116.

Functional impairments in NBIA patients: Preliminary results.

Syczewska M, Stęplowska A, Szczerbik E, et al.

Intractable & rare diseases research 2024; (13(3)):172-177 doi:10.5582/irdr.2024.01019.

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.

Phase separation of C19orf12 regulates BNIP3 protein quality control and maintains neuronal mitophagy.

Shao C, Bhatta S, Kumari M, et al.

Autophagy 2026; 1-15 doi:10.1080/15548627.2026.2655834.

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments.

Schneider SA, Garg D, Iankova V, Klopstock T

Movement disorders clinical practice 2026; doi:10.1002/mdc3.70736.