The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.
Genetics of Neurodegeneration with Brain Iron Accumulation
Open accessAbstract
The condition originally called Hallervorden-Spatz syndrome is a collection of related disorders involving abnormal iron accumulation in the basal ganglia, usually manifesting with a movement disorder. To date, mutations in the following genes have been associated with neurodegeneration with brain iron accumulation (NBIA) phenotypes: PANK2, PLA2G6, FA2H, ATP13A2, C2orf37, CP, and FTL. This collection, now classified under the umbrella term NBIA, continues to evolve as new genes and associated phenotypes are recognized. As this body of information continues to grow, better approaches to diagnosis and treatment have become available. Continued investigations of the underlying pathogenesis of disease, with a focus on lipid, iron, and energy metabolism, will lead to the identification of new therapeutic targets.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Fatty acid hydroxylase-associated neurodegeneration leads to iron accumulation in the globus pallidus, with the substantia nigra possibly less affected.172”
From The role of iron in brain ageing and neurodegenerative disorders (2014) · cites this paper as [172]
In the citing paper
“In other rare genetic diseases of this group, such as pantothenate kinase-associated neurodegeneration, phospholipase A2G6-associated neurodegeneration, and Kufor-Rakeb disease, mutations disrupt proteins with cellular functions different from iron metabolism, and the mechanisms that result in brain iron overload are undefined.169–173”
From The role of iron in brain ageing and neurodegenerative disorders (2014) · cites this paper as [172]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Ramirez, A., Heimbach, A., Gründemann, J., Stiller, B., Hampshire, D., Cid, L. P., Goebel, I., Mubaidin, A. F., Wriekat, A.-L., Roeper, J., et al. (2006) · Nature Genetics · doi:10.1038/ng1884 · Cited by 1,208
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome
Zhou, B., Westaway, S. K., Levinson, B., Johnson, M., Gitschier, J. M., & Hayflick, S. J. (2001) · Nature Genetics · doi:10.1038/ng572 · Cited by 756
Self-citationGenetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome
Hayflick, S. J., Westaway, S. K., Levinson, B., Zhou, B., Johnson, M., Ching, K. H. L., & Gitschier, J. M. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa020817 · Cited by 713
Self-citationCurtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., et al. (2001) · Nature Genetics · doi:10.1038/ng571 · Cited by 537
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Morgan, N. V., Westaway, S. K., Morton, J. E. V., Gregory, A., Gissen, P., Sonek, S., Cangül, H., Coryell, J. C., Canham, N. L. E., Nardocci, N., et al. (2006) · Nature Genetics · doi:10.1038/ng1826 · Cited by 532
Self-citationCharacterization of PLA2G6 as a locus for dystonia‐parkinsonism
Paisán‐Ruiz, C., Bhatia, K. P., Li, A., Hernandez, D. G., Davis, M. B., Wood, N. W., Hardy, J., Houlden, H., Singleton, A., & Schneider, S. A. (2008) · Annals of Neurology · doi:10.1002/ana.21415 · Cited by 479
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S.-I., Shimizu, N., & Yanagisawa, N. (1995) · Nature Genetics · doi:10.1038/ng0395-267 · Cited by 463
Selective iron chelation in Friedreich ataxia: biologic and clinical implications
Boddaert, N., Le Quan Sang, K. H., Rötig, A., Leroy-Willig, A., Gallet, S., Brunelle, F., Sidi, D., Thalabard, J.-C., Munnich, A., & Cabantchik, Z. I. (2007) · Blood · doi:10.1182/blood-2006-12-065433 · Cited by 409
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
Fonzo, A. D., Chien, H. F., Socal, M. P., Giraudo, S., Tassorelli, C., Iliceto, G., Fabbrini, G., Marconi, R., Fincati, E., Abbruzzese, G., et al. (2007) · Neurology · doi:10.1212/01.wnl.0000260963.08711.08 · Cited by 337
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
McNeill, A., Birchall, D., Hayflick, S. J., Gregory, A., Schenk, J. F., Zimmerman, E. A., Shang, H., Miyajima, H., & Chinnery, P. F. (2008) · Neurology · doi:10.1212/01.wnl.0000310985.40011.d6 · Cited by 305
Self-citationNeurodegeneration associated with genetic defects in phospholipase A 2
Gregory, A., Westaway, S. K., Holm, I. E., Kotzbauer, P. T., Hogarth, P., Sonek, S., Coryell, J. C., Nguyen, T. M., Nardocci, N., Zorzi, G. S., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000327094.67726.28 · Cited by 269
Self-citationDefective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
Kruer, M. C., Paisán‐Ruiz, C., Boddaert, N., Yoon, M. Y., Hama, H., Gregory, A., Malandrini, A., Woltjer, R. L., Münnich, A., Gobin, S., et al. (2010) · Annals of Neurology · doi:10.1002/ana.22122 · Cited by 239
Self-citationPhenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
Kurian, M. A., Morgan, N. V., MacPherson, L. K. R., Foster, K., Peake, D., Gupta, R., Philip, S., Hendriksz, C. J., Morton, J. E. V., Kingston, H. M., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000310986.48286.8e · Cited by 238
Edvardson, S., Hama, H., Shaag, A., Gomori, J. M., Berger, I., Soffer, D., Korman, S. H., Taustein, I., Saada, A., & Elpeleg, O. N. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.10.010 · Cited by 218
Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation
Kruer, M. C., Boddaert, N., Schneider, S. A., Houlden, H., Bhatia, K. P., Gregory, A., Anderson, J. C., Rooney, W. D., Hogarth, P., & Hayflick, S. J. (2011) · American Journal of Neuroradiology · doi:10.3174/ajnr.a2677 · Cited by 218
Self-citationFatty acid 2-Hydroxylation in mammalian sphingolipid biology
Hama, H. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2009.12.004 · Cited by 216
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)
Dick, K. J., Eckhardt, M., Paisán‐Ruiz, C., Al‐Khayat, A., Proukakis, C., Sibtain, N. A., Maier, H., Sharifi, R., Patton, M. A., Bashir, W., et al. (2010) · Human Mutation · doi:10.1002/humu.21205 · Cited by 201
Williams, D. R., Hadeed, A., Al-Din, A. S. N., Wreikat, A.-L., & Lees, A. J. (2005) · Movement Disorders · doi:10.1002/mds.20511 · Cited by 198
Cellular Responses to Excess Phospholipid
Baburina, I., & Jackowski, S. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.14.9400 · Cited by 197
Pallidal stimulation improves pantothenate kinase–associated neurodegeneration
Castelnau, P., Cif, L., Valente, E. M., Vayssière, N., Hemm, S., Gannau, A., DiGiorgio, A., & Coubes, P. A. (2005) · Annals of Neurology · doi:10.1002/ana.20457 · Cited by 196
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
Schneider, S. A., Paisán‐Ruiz, C., Quinn, N. P., Lees, A. J., Houlden, H., Hardy, J., & Bhatia, K. P. (2010) · Movement Disorders · doi:10.1002/mds.22947 · Cited by 189
Hartig, M., Hörtnagel, K., Garavaglia, B., Zorzi, G. S., Kmieć, T., Klopstock, T., Rostasy, K. M., Svetel, M. V., Kostić, V., Schuelke, M., et al. (2006) · Annals of Neurology · doi:10.1002/ana.20771 · Cited by 183
Phenotypic spectrum of patients with PLA2G6 mutation and PARK14 -linked parkinsonism
Yoshino, H., Tomiyama, H., Tachibana, N., Ogaki, K., Li, Y., Funayama, M., Hashimoto, T., Takashima, S., & Hattori, N. (2010) · Neurology · doi:10.1212/wnl.0b013e3181f73649 · Cited by 165
INFANTILE NEUROAXONAL DYSTROPHY
Aicardi, J. F., & CASTELEIN, P. (1979) · Brain · doi:10.1093/brain/102.4.727 · Cited by 162
Pantethine rescues a Drosophila model for pantothenate kinase–associated neurodegeneration
Rana, A., Seinen, E., Siudeja, K., Muntendam, R., Srinivasan, B., van der Want, J. J. L., Hayflick, S. J., Reijngoud, D., Kayser, O., & Sibon, O. C. M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912105107 · Cited by 156
Self-citationAlazami, A. M., Al-Saif, A. M., Alsemari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P. P., Kaya, N., Çolak, D., Khalak, H. G., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.10.018 · Cited by 140
Aceruloplasminemia, an inherited disorder of iron metabolism
Miyajima, H., Takahashi, Y., & Kono, S. (2003) · BioMetals · doi:10.1023/a:1020775101654 · Cited by 136
Engel, L. A., Jing, Z., O’Brien, D. E., Sun, M., & Kotzbauer, P. T. (2010) · PLoS ONE · doi:10.1371/journal.pone.0012897 · Cited by 118
Huntington's disease phenocopies are clinically and genetically heterogeneous
Wild, E. J., Mudanohwo, E. E., Sweeney, M. G., Schneider, S. A., Beck, J. A., Bhatia, K. P., Rossor, M. N., Davis, M. B., & Tabrizi, S. J. (2008) · Movement Disorders · doi:10.1002/mds.21915 · Cited by 115
Clinical spectrum of Kufor‐Rakeb syndrome in the Chilean kindred with ATP13A2 mutations
Behrens, M. I., Brüggemann, N., Chaná, P., Venegas, P., Kägi, M., Parrao, T., Orellana, P., Cristián Garrido, I., Rojas, C., Hauke, J., et al. (2010) · Movement Disorders · doi:10.1002/mds.22996 · Cited by 112
Woodhouse, N. J. Y., & Sakati, N. (1983) · Journal of Medical Genetics · doi:10.1136/jmg.20.3.216 · Cited by 106
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
Santoro, L., Breedveld, G. J., Manganelli, F., Iodice, R., Pisciotta, C., Nolano, M., Punzo, F., Quarantelli, M., Pappatà, S., Fonzo, A. D., et al. (2010) · Neurogenetics · doi:10.1007/s10048-010-0259-0 · Cited by 105
Egan, R. A., Weleber, R. G., Hogarth, P., Gregory, A., Coryell, J. C., Westaway, S. K., Gitschier, J. M., Das, S., & Hayflick, S. J. (2005) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2005.03.024 · Cited by 98
Self-citationPARK9 -LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE
Ning, Y., Kanai, K., Tomiyama, H., Li, Y., Funayama, M., Yoshino, H., Sato, S., Asahina, M., Kuwabara, S., Takeda, A., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000310427.72236.68 · Cited by 95
Krause, M., Fogel, W., Tronnier, V. M., Pohle, S., Hörtnagel, K., Thyen, U., & Volkmann, J. (2006) · Movement Disorders · doi:10.1002/mds.21166 · Cited by 91
Mikati, M. A., Yehya, A., Darwish, H., Karam, P. E., & Comair, Y. G. (2008) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2008.01.006 · Cited by 89
Intraventricular baclofen for dystonia: techniques and outcomes
Albright, A. L., & Ferson, S. S. (2009) · Journal of Neurosurgery Pediatrics · doi:10.3171/2008.10.peds0847 · Cited by 84
Estimation of the gene frequency of aceruloplasminemia in Japan
Miyajima, H., Kohno, S., Takahashi, Y., Yonekawa, O., & Kanno, T. (1999) · Neurology · doi:10.1212/wnl.53.3.617 · Cited by 76
The Eye-of-the-Tiger Sign is not a Reliable Disease Marker for Hallervorden-Spatz Syndrome
Baumeister, F. A. M., Auer, D. P., Hörtnagel, K., Freisinger, P., & Meitinger, T. (2005) · Neuropediatrics · doi:10.1055/s-2005-865714 · Cited by 68
Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation
Crosiers, D., Ceulemans, B., Meeus, B., Nuytemans, K., Pals, P., Broeckhoven, C. V., Cras, P. P., & Theuns, J. (2010) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2010.10.011 · Cited by 65
Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome
Hayflick, S. J., Penzien, J. M., Michl, W., Sharif, U. M., Rosman, N. P., & Wheeler, P. G. (2001) · Pediatric Neurology · doi:10.1016/s0887-8994(01)00296-x · Cited by 62
Self-citationAlsemari, A., & Bohlega, S. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31497 · Cited by 55
Spectrum of movement disorders in neuroferritinopathy
Crompton, D. E., Chinnery, P. F., Bates, D., Walls, T. J., Jackson, M. J., Curtis, A. J., & Burn, J. (2004) · Movement Disorders · doi:10.1002/mds.20284 · Cited by 52
Indian‐subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms
Aggarwal, A., Schneider, S. A., Houlden, H., Silverdale, M., Paudel, R., Paisán‐Ruiz, C., Desai, S. B., Munshi, M., Sanghvi, D., Hardy, J., et al. (2010) · Movement Disorders · doi:10.1002/mds.23095 · Cited by 48
Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation
Lees, A. J., & Singleton, A. (2007) · Neurology · doi:10.1212/01.wnl.0000265228.66664.f4 · Cited by 35
Tonelli, A., Romaniello, R., Grasso, R., Cavallini, A. R., Righini, A., Bresolin, N., Borgatti, R., & Bassi, M. T. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01417.x · Cited by 34
ATP13A2‐related neurodegeneration (PARK9) without evidence of brain iron accumulation
Chien, H. F., Bonifati, V., & Barbosa, E. R. (2011) · Movement Disorders · doi:10.1002/mds.23514 · Cited by 27
Fyfe, J. C., Al-Temaimi, R. A., Castellani, R. J., Rosenstein, D. S., Goldowitz, D., & Henthorn, P. S. (2010) · The Journal of Comparative Neurology · doi:10.1002/cne.22423 · Cited by 16
Autosomal recessive ataxia, slow eye movements and psychomotor retardation
Al-Din, A. S. N., Kurdi, A., Dasouki, M., Wriekat, A.-L., Al-Khateeb, M., Mubaidin, A., & Al-Hiari, M. (1994) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(94)90011-6 · Cited by 7
Fetal Akinesia Deformation Sequence and Neuroaxonal Dystrophy without PLA2G6 Mutation
Rakheja, D., Uddin, N., Mitui, M., Cope‐Yokoyama, S., Hogan, R. N., & Burns, D. K. (2010) · Pediatric and Developmental Pathology · doi:10.2350/10-01-0782-cr.1 · Cited by 4
Identification of a second major locus for neurodegeneration with brain iron accumulation
Hartig, M., Iuso, A., Kmieć, T., Jurkiewicz, E., Heim, K., Roeber, S., Krajewska‐Walasek, M., Jóźwiak, S., Hempel, M., Winkelmann, J., et al. (2011) · Neuropediatrics · doi:10.1055/s-0031-1274101 · Cited by 4
Cited by
Sorted by citations
The role of iron in brain ageing and neurodegenerative disorders
Ward, R. J., Zucca, F. A., Duyn, J. H., Crichton, R. R., & Zecca, L. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70117-6 · Cited by 1,819
Metals, oxidative stress and neurodegeneration: A focus on iron, manganese and mercury
Farina, M., Ávila, D. S., da Rocha, J. B. T., & Aschner, M. (2012) · Neurochemistry International · doi:10.1016/j.neuint.2012.12.006 · Cited by 578
Iron metabolism in the CNS: implications for neurodegenerative diseases
Rouault, T. A. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3453 · Cited by 496
Saitsu, H., Nishimura, T., Muramatsu, K., Kodera, H., Kumada, S., Sugai, K., Kasai-Yoshida, E., Sawaura, N., Nishida, H., Hoshino, A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2562 · Cited by 474
Haack, T. B., Hogarth, P., Kruer, M. C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.10.019 · Cited by 360
Self-citation
Metadata
- Authors
- Gregory, A., & Hayflick, S. J.
- Affiliations
- Oregon Health & Science University (US)
- Corresponding author
- Gregory, Allison
- Venue
- Current Neurology and Neuroscience Reports
- Published
- 2011-02-01
- Volume
- 11
- Issue
- 3
- Pages
- 254-261
- ISSN
- 1528-4042 (ISSN-L)
- 1534-6293
- PMC
- PMC5908240
- OpenAlex
- W2013834016
- Cited by
- 104
- References
- 51
- Citations by year
- 2025: 1 · 2024: 5 · 2023: 2 · 2022: 1 · 2021: 5 · 2019: 4 · 2018: 4 · 2017: 6 · 2016: 5 · 2015: 14 · 2014: 13 · 2013: 16 · 2012: 22
- FWCI
- 1.58
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Current Neurology and Neuroscience Reports (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Eye Institute (R01EY012353)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD050832)
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- neurodegeneration with brain iron accumulation, Hallervorden-Spatz disease, PANK2, PLA2G6, FA2H, ATP13A2, CP, FTL, basal ganglia iron accumulation, movement disorders, genetic mutations, lipid metabolism, iron metabolism, energy metabolism, therapeutic target
- MeSH terms
- Brain, Pantothenate Kinase-Associated Neurodegeneration, Humans, Iron, Mutation, Phosphotransferases (Alcohol Group Acceptor), Neurodegenerative Diseases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
