Research & Literature

Neurodegeneration with brain iron accumulation.

Gregory A, Hayflick SJ

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

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

Tschentscher A, Dekomien G, Ross S, et al.

Journal of the neurological sciences 2015; (349(1-2)):105-9.

Anaesthetic management of a child with panthothenate kinase-associated neurodegeneration.

Sinha R, Biyani G, Bhattacharjee S

Indian journal of anaesthesia 2015; (59(1)):43-6 doi:10.4103/0019-5049.149449.

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.

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

Schiessl-Weyer J, Roa P, Laccone F, et al.

PloS one 2015; (10(4)):e0125861 doi:10.1371/journal.pone.0125861.

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes.

Walker RH

Journal of movement disorders 2015; (8(2)):41-54 doi:10.14802/jmd.15009.

Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene.

Tanrıkulu B, Özen A, Günal DI, et al.

Acta neurochirurgica 2015; (157(9)):1513-6; discussion 1516-7 doi:10.1007/s00701-015-2514-5.

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.

Lee JH, Park J, Ryu HS, et al.

Journal of movement disorders 2016; (9(1)):20-7 doi:10.14802/jmd.15058.

[«A most strange instance of illness in several siblings»--first description of a rare neurological disease in 1830?].

Nylenna M, Breivik N, Heiberg A, Larsen Ø

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke 2016; (136(5)):437-40 doi:10.4045/tidsskr.15.0844.

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.

Orellana DI, Santambrogio P, Rubio A, et al.

EMBO molecular medicine 2016; (8(10)):1197-1211 doi:10.15252/emmm.201606391.

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.

Dystonic storm: a practical clinical and video review.

Termsarasab P, Frucht SJ

Journal of clinical movement disorders 2017; (4()):10 doi:10.1186/s40734-017-0057-z.

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.

Christou YP, Tanteles GA, Kkolou E, et al.

Case reports in neurological medicine 2017; (2017()):3247034 doi:10.1155/2017/3247034.

[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration].

Zhou J, He J, Kou LP, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2017; (55(9)):678-682 doi:10.3760/cma.j.issn.0578-1310.2017.09.011.

Status dystonicus in childhood.

Lumsden DE, King MD, Allen NM

Current opinion in pediatrics 2017; (29(6)):674-682 doi:10.1097/MOP.0000000000000556.

All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report.

da Costa RQM, Marrocos RP, Leite MAA, Porto FHG

Dementia & neuropsychologia 2016; (10(3)):251-253 doi:10.1590/S1980-5764-2016DN1003014.

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.

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.

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.

Botulinum toxin injection to improve functional independence and to alleviate parenting stress in a child with advanced pantothenate kinase-associated neurodegeneration: A case report and literature review.

Lin CI, Chen KL, Kuan TS, et al.

Medicine 2018; (97(20)):e10709 doi:10.1097/MD.0000000000010709.

Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments.

Razmeh S, Habibi AH, Orooji M, et al.

Neurology international 2018; (10(1)):7516 doi:10.4081/ni.2018.7516.

CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION.

Ayas ZO, Karkucak M, Ocal RO, Yakut T

Genetic counseling (Geneva, Switzerland) 2016; (27(4)):489-494.

[Anesthesia in patients with NBIA : Neurodegeneration with brain iron accumulation].

Warnecke T, Schmitz J, Kerkhoff S, Hinkelbein J

Der Anaesthesist 2018; (67(11)):871-877 doi:10.1007/s00101-018-0488-4.

Deep brain stimulation for pantothenate kinase-associated neurodegeneration: A meta-analysis.

De Vloo P, Lee DJ, Dallapiazza RF, et al.

Movement disorders : official journal of the Movement Disorder Society 2019; (34(2)):264-273 doi:10.1002/mds.27563.

Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases.

Zhang Y, Zhou D, Yang T

Medicine 2019; (98(4)):e14122 doi:10.1097/MD.0000000000014122.

Inborn errors of coenzyme A metabolism and neurodegeneration.

Di Meo I, Carecchio M, Tiranti V

Journal of inherited metabolic disease 2019; (42(1)):49-56 doi:10.1002/jimd.12026.

A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration.

Habibi AH, Razmeh S, Aryani O, et al.

Neurology international 2019; (11(1)):7959 doi:10.4081/ni.2019.7959.

Novel PANK2 mutation discovered among South East Asian children living in Thailand affected with pantothenate kinase associated neurodegeneration.

Sakpichaisakul K, Saengow VE, Suwanpratheep P, et al.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019; (66()):187-190 doi:10.1016/j.jocn.2019.04.017.

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.

Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans.

Brezavar D, Bonnen PE

Molecular genetics and metabolism 2019; (128(4)):463-469 doi:10.1016/j.ymgme.2019.09.002.

Status dystonicus: management and prevention in children at high risk.

Iodice A, Pisani F

Acta bio-medica : Atenei Parmensis 2019; (90(3)):207-212 doi:10.23750/abm.v90i3.7207.

4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN.

Jeong SY, Hogarth P, Placzek A, et al.

EMBO molecular medicine 2019; (11(12)):e10489 doi:10.15252/emmm.201910489.

Neuropsychological functions and psychiatric symptoms in late-onset manifestation of pantothenate kinase-associated neurodegeneration: a clinical case report.

Palmeri R, Lo Buono V, Berenati M, et al.

The International journal of neuroscience 2020; (130(5)):490-492 doi:10.1080/00207454.2019.1694924.

Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration.

Chang X, Zhang J, Jiang Y, et al.

CNS neuroscience & therapeutics 2020; (26(7)):754-761 doi:10.1111/cns.13294.

Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation.

Lee JH, Yun JY, Gregory A, et al.

Frontiers in neurology 2020; (11()):1024 doi:10.3389/fneur.2020.01024.

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.

Rational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration.

Thakur N, Klopstock T, Jackowski S, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(9)):2005-2016 doi:10.1002/mds.28642.

Characterization of sleep in six patients with pantothenate kinase-associated neurodegeneration.

Planellas L, Mayà G, Painous C, et al.

Sleep medicine 2021; (84()):389-396 doi:10.1016/j.sleep.2021.06.019.

A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.

Werning M, Dobretzberger V, Brenner M, et al.

Biomolecules 2022; (12(2)) doi:10.3390/biom12020325.

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.

Yang D, Cho S, Cho SI, et al.

Orphanet journal of rare diseases 2022; (17(1)):111 doi:10.1186/s13023-022-02251-7.

Status Dystonicus in Children: A Cross-Sectional Study and Review of Literature.

Saini AG, Hassan I, Sharma K, et al.

Journal of child neurology 2022; (37(6)):441-450 doi:10.1177/08830738221081593.

Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.

Li WB, Shen NX, Zhang C, et al.

Frontiers in aging neuroscience 2022; (14()):848919 doi:10.3389/fnagi.2022.848919.

Type 1 neurodegeneration with brain iron accumulation: a case report.

Labrada-Aguilera PE, Guach-Hevia DA, Almira-Gómez CR, González-Lago DA

Journal of medical case reports 2022; (16(1)):217 doi:10.1186/s13256-022-03430-7.

Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia.

Woo KA, Kim HJ, Jeon SH, et al.

Journal of movement disorders 2022; (15(3)):241-248 doi:10.14802/jmd.22002.

Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders.

Ranganath P, Patil M

Journal of pediatric genetics 2023; (12(2)):163-166 doi:10.1055/s-0041-1723959.

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.

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.

Klopstock T, Mercimek-Andrews S, Jurecka A, et al.

Orphanet journal of rare diseases 2023; (18(1)):257 doi:10.1186/s13023-023-02869-1.

Pseudo-eye-of-the-tiger sign in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).

Abreu VS, Silva JS, Igreja L, et al.

American journal of medical genetics. Part A 2024; (194(1)):103-106 doi:10.1002/ajmg.a.63419.

Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management.

Behrndt L, Gregory A, Wakeman K, et al.

Journal of pediatric orthopedics 2024; (44(1)):e61-e68 doi:10.1097/BPO.0000000000002555.

Neurodegeneration with Brain Iron Accumulation Disorders and Retinal Neurovascular Structure.

Amini E, Rohani M, Fasano A, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(2)):411-423 doi:10.1002/mds.29644.

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.

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.

Mitochondrial iron deficiency triggers cytosolic iron overload in PKAN hiPS-derived astrocytes.

Santambrogio P, Cozzi A, Balestrucci C, et al.

Cell death & disease 2024; (15(5)):361 doi:10.1038/s41419-024-06757-9.

Metabolic impairments in neurodegeneration with brain iron accumulation.

Wydrych A, Pakuła B, Janikiewicz J, et al.

Biochimica et biophysica acta. Bioenergetics 2025; (1866(1)):149517 doi:10.1016/j.bbabio.2024.149517.

Patient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration.

Chan JL, Rawls AE, Wong JK, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2024; (14()):51 doi:10.5334/tohm.929.

A therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study.

Pereira A, Fischinger Moura de Souza C, Álvarez-Córdoba M, et al.

Orphanet journal of rare diseases 2024; (19(1)):442 doi:10.1186/s13023-024-03453-x.

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.

Mitochondrial and autophagic dysfunctions of skin fibroblasts derived from pantothenate kinase-associated neurodegeneration patients carrying PANK2 mutations and the rescuing effects of allantoin.

Zhu J, Yao T, Wang C

Parkinsonism & related disorders 2025; (134()):107806 doi:10.1016/j.parkreldis.2025.107806.

Rare PANK2 variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic.

Vardarajan BN, Roa PS, Kim CY, et al.

Brain communications 2025; (7(4)):fcaf286 doi:10.1093/braincomms/fcaf286.

Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients.

Giuliano M, Borgione E, Lo Giudice M, et al.

Genes 2025; (16(9)) doi:10.3390/genes16091008.

Missense variants in PKAN: insights from a multi-patient genetic analysis.

Kılıç M, Mercan S, Barut BÖ, et al.

Neurogenetics 2025; (26(1)):82 doi:10.1007/s10048-025-00864-1.

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.

Di Meo I, Anikster Y, Tiranti V, Iuso A

Journal of inherited metabolic disease 2026; (49(5)):e70239 doi:10.1002/jimd.70239.

Clinically Suspected Atypical Pantothenate Kinase-Associated Neurodegeneration Without the Eye-of-the-Tiger Sign: A Case Report.

Rode R, Salunkhe P, Madavi J, Virdande P

Cureus 2026; (18(7)):e113136 doi:10.7759/cureus.113136.

Beyond the Eye of the Tiger: A Case Report of Adult-Onset Pantothenate Kinase-Associated Neurodegeneration Mimicking Progressive Supranuclear Palsy-Parkinsonism.

Moradian A, Memari K, Rodriguez SA, et al.

Cureus 2026; (18(8)):e115398 doi:10.7759/cureus.115398.