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.
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“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]
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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
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Moreira, A. S. H. (2012) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.34626/ps80-7h71
Treinamento físico de paciente com a síndrome de Hallervorden-Spatz: um relato de caso
Almeida, L. M. B., & Belchior, L. D. (2021) · Revista de Medicina da UFC · doi:10.20513/2447-6595.2021v61n1e43631p1-4
Infantile Developmental Delay Caused by Pathogenic Mutation in WDR45 Gene and Literature ReviewPreprint
Cao, Q., Wang, H., & Huo, L. (2021) · Research Square · doi:10.21203/rs.3.rs-964834/v1
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
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