Research & Literature

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.

Park JS, Blair NF, Sue CM

Movement disorders : official journal of the Movement Disorder Society 2015; (30(6)):770-9 doi:10.1002/mds.26243.

Pimavanserin.

Hunter NS, Anderson KC, Cox A

Drugs of today (Barcelona, Spain : 1998) 2015; (51(11)):645-52 doi:10.1358/dot.2015.51.11.2404001.

Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.

Park JS, Sue CM

Current protein & peptide science 2017; (18(7)):725-732 doi:10.2174/1389203717666160311121534.

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Estrada-Cuzcano A, Martin S, Chamova T, et al.

Brain : a journal of neurology 2017; (140(2)):287-305 doi:10.1093/brain/aww307.

Parkinsonian-Pyramidal syndromes: A systematic review.

Tranchant C, Koob M, Anheim M

Parkinsonism & related disorders 2017; (39()):4-16 doi:10.1016/j.parkreldis.2017.02.025.

The US Food and Drug Administration's Perspective on the New Antipsychotic Pimavanserin.

Mathis MV, Muoio BM, Andreason P, et al.

The Journal of clinical psychiatry 2017; (78(6)):e668-e673.

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.

Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.

Inzelberg R, Estrada-Cuzcano A, Laitman Y, et al.

Journal of Parkinson's disease 2018; (8(3)):399-403 doi:10.3233/JPD-181360.

The genetic landscape of Parkinson's disease.

Lunati A, Lesage S, Brice A

Revue neurologique 2018; (174(9)):628-643 doi:10.1016/j.neurol.2018.08.004.

ATP13A2 facilitates HDAC6 recruitment to lysosome to promote autophagosome-lysosome fusion.

Wang R, Tan J, Chen T, et al.

The Journal of cell biology 2019; (218(1)):267-284 doi:10.1083/jcb.201804165.

Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.

Rohani M, Lang AE, Sina F, et al.

Movement disorders clinical practice 2018; (5(2)):195-199 doi:10.1002/mdc3.12570.

Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report.

McNeil-Gauthier AL, Brais B, Rouleau G, et al.

Neurocase 2019; (25(3-4)):133-137 doi:10.1080/13554794.2019.1625928.

Overexpression of human Atp13a2Isoform-1 protein protects cells against manganese and starvation-induced toxicity.

Ugolino J, Dziki KM, Kim A, et al.

PloS one 2019; (14(8)):e0220849 doi:10.1371/journal.pone.0220849.

Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.

Pietrzak A, Badura-Stronka M, Kangas-Kontio T, et al.

Folia neuropathologica 2019; (57(3)):285-294 doi:10.5114/fn.2019.88459.

Juvenile Parkinson Disease.

Anwar A, Saleem S, Akhtar A, et al.

Cureus 2019; (11(8)):e5409 doi:10.7759/cureus.5409.

Different cortical excitability profiles in hereditary brain iron and copper accumulation.

Dubbioso R, Ruggiero L, Esposito M, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(3)):679-685 doi:10.1007/s10072-019-04147-0.

Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.

Morales-Briceño H, Mohammad SS, Post B, et al.

Brain : a journal of neurology 2020; (143(3)):751-770 doi:10.1093/brain/awz345.

ATP13A2 deficiency disrupts lysosomal polyamine export.

van Veen S, Martin S, Van den Haute C, et al.

Nature 2020; (578(7795)):419-424 doi:10.1038/s41586-020-1968-7.

Dysregulated iron metabolism in C. elegans catp-6/ATP13A2 mutant impairs mitochondrial function.

Anand N, Holcom A, Broussalian M, et al.

Neurobiology of disease 2020; (139()):104786 doi:10.1016/j.nbd.2020.104786.

Carbamazepine-, Oxcarbazepine-, Eslicarbazepine-Associated Movement Disorder: A Literature Review.

Rissardo JP, Caprara ALF

Clinical neuropharmacology 2020; (43(3)):66-80 doi:10.1097/WNF.0000000000000387.

Phenotypic assays in yeast and zebrafish reveal drugs that rescue ATP13A2 deficiency.

Heins-Marroquin U, Jung PP, Cordero-Maldonado ML, et al.

Brain communications 2019; (1(1)):fcz019 doi:10.1093/braincomms/fcz019.

Psychiatric Manifestations of ATP13A2 Mutations.

Balint B, Damasio J, Magrinelli F, et al.

Movement disorders clinical practice 2020; (7(7)):838-841 doi:10.1002/mdc3.13034.

Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.

Kırımtay K, Temizci B, Gültekin M, et al.

Brain research 2021; (1750()):147167 doi:10.1016/j.brainres.2020.147167.

Early-Onset Parkinsonism and Halo Sign: Beta-propeller Proteinassociated Neurodegeneration.

Samanta D, Ramakrishnaiah R

Journal of pediatric neurosciences 2020; (15(3)):325-327 doi:10.4103/jpn.JPN_62_20.

Pallidal degenerations and related disorders: an update.

Jellinger KA

Journal of neural transmission (Vienna, Austria : 1996) 2022; (129(5-6)):521-543 doi:10.1007/s00702-021-02392-2.

Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.

Wittke C, Petkovic S, Dobricic V, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(7)):1499-1510 doi:10.1002/mds.28517.

Neuropathologic Findings in a Patient With Juvenile-Onset Levodopa-Responsive Parkinsonism Due to ATP13A2 Mutation.

Chien HF, Rodriguez RD, Bonifati V, et al.

Neurology 2021; (97(16)):763-766 doi:10.1212/WNL.0000000000012705.

Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

Magrinelli F, Mehta S, Di Lazzaro G, et al.

Movement disorders : official journal of the Movement Disorder Society 2022; (37(1)):148-161 doi:10.1002/mds.28807.

Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.

Stephen CD, Dy-Hollins M, Gusmao CM, et al.

Seminars in neurology 2023; (43(1)):17-34 doi:10.1055/s-0043-1764292.

A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.

Zhang F, Liu P, Li J, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024; (45(4)):1749-1753 doi:10.1007/s10072-024-07334-w.

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Colijn MA, Vrijsen S, Au PYB, et al.

Neurogenetics 2024; (25(4)):405-415 doi:10.1007/s10048-024-00767-7.

Pathology and treatment methods in pantothenate kinase-associated neurodegeneration.

Kwinta R, Kopcik K, Koberling A

Postepy psychiatrii neurologii 2024; (33(3)):163-171 doi:10.5114/ppn.2024.141713.

Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.

Khosravi S, Amini E, Emamikhah M, et al.

Movement disorders clinical practice 2025; (12(6)):852-857 doi:10.1002/mdc3.70027.

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.

Messaoud-Khelifi M, Boulariah-Hadjou R, Kediha MI, et al.

Neurogenetics 2025; (26(1)):52 doi:10.1007/s10048-025-00833-8.

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

Affronte L, Pini A, Pizzoli C, et al.

Frontiers in genetics 2025; (16()):1588812 doi:10.3389/fgene.2025.1588812.

Kufor-Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report.

Méndez-Veras R, Urbizo A, Cabrera J, Boburg S

Case reports in genetics 2025; (2025()):6993134 doi:10.1155/crig/6993134.

More than a Movement Disorder: Non-Motor Features and Future Directions in Dystonia Research.

Rampes S, Batla A

Brain sciences 2025; (15(12)) doi:10.3390/brainsci15121293.

Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.

Roy S, Mahale RR

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(1)):106.

Disruption of intracellular iron homeostasis through mitochondrial dysfunction associated with suppression of ATP 13A2 expression.

Murakami T, Ohuchi K, Kiuchi M, et al.

Scientific reports 2026; (16(1)):5007 doi:10.1038/s41598-026-35368-x.

Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation.

Erterek E, Temizci B, Tekgül Ş, et al.

Journal of neurochemistry 2026; (170(4)):e70418 doi:10.1111/jnc.70418.