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.
“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 other rare genetic diseases of the neurodegeneration with brain iron accumulation group, mutations disrupt proteins with cellular functions different from iron metabolism, and the mechanisms that result in brain iron overload are undefined.
“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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- 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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