Cited by 104Neurological diseases and metabolismIron Metabolism and DisordersMetabolism and Genetic Disorders

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Genetics of Neurodegeneration with Brain Iron Accumulation

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Gregory, Allison, Hayflick, Susan J.·2011·Current Neurology and Neuroscience Reports

DOI 10.1007/s11910-011-0181-3PMC PMC5908240

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Abstract

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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Authors: Gregory, A., & Hayflick, S. J.
Affiliations: Oregon Health & Science University (US)
Corresponding author: Gregory, Allison
ORCID: Gregory, Allison
Hayflick, Susan J.
Venue: Current Neurology and Neuroscience Reports
Publisher: Springer Science and Business Media LLC
Published: 2011-02-01
Volume: 11
Issue: 3
Pages: 254-261
ISSN: 1528-4042 (ISSN-L)
1534-6293
DOI: 10.1007/s11910-011-0181-3
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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Genetics of Neurodegeneration with Brain Iron Accumulation

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