Clinical and genetic delineation of neurodegeneration with brain iron accumulation
Open accessAbstract
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive neurodegenerative disorders characterised by high brain iron and the presence of axonal spheroids, usually limited to the central nervous system. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive inborn error of coenzyme A metabolism called pantothenate kinase associated neurodegeneration (PKAN). More recently, it was found that mutations in the PLA2G6 gene cause both infantile neuroaxonal dystrophy (INAD) and, more rarely, an atypical neuroaxonal dystrophy that overlaps clinically with other forms of NBIA. High brain iron is also present in a portion of these cases. Clinical assessment, neuroimaging, and molecular genetic testing all play a role in guiding the diagnostic evaluation and treatment of NBIA.
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In humans, a rare genetic defect in pantothenate kinase production translates into inherited neurodegenerative diseases.
“In humans, there is a rare genetic defect in the production of pantothenate kinase, an enzyme that is crucial in the synthesis of acetyl-CoA, which translates into inherited neurodegenerative diseases or neurodegeneration [145].”
From Vitamins and Minerals for Energy, Fatigue and Cognition: A Narrative Review of the Biochemical and Clinical Evidence (2020) · cites this paper as [145]
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- Authors
- Gregory, A., Polster, B. J., & Hayflick, S. J.
- Affiliations
- Oregon Health & Science University (US)
- Corresponding author
- Gregory, A
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2008-11-03
- Volume
- 46
- Issue
- 2
- Pages
- 73-80
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC2675558
- OpenAlex
- W2115972690
- Cited by
- 364
- References
- 70
- Citations by year
- 2026: 7 · 2025: 12 · 2024: 17 · 2023: 15 · 2022: 22 · 2021: 10 · 2020: 20 · 2019: 13 · 2018: 15 · 2017: 17 · 2016: 27 · 2015: 19 · 2014: 31 · 2013: 38 · 2012: 32
- FWCI
- 1.95
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NBIA Disorders Association
- National Institutes of Health
- National Eye Institute (R01 EY 12353, R01EY012353)
- National Center for Research Resources (M01RR000334)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD050832)
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Keywords
- neurodegeneration with brain iron accumulation, PANK2, pantothenate kinase-associated neurodegeneration, PLA2G6, infantile neuroaxonal dystrophy, brain iron accumulation, axonal swellings, coenzyme A metabolism, genetic diagnosis, neuroimaging, clinical features
- MeSH terms
- Brain, Humans, Iron, Phenotype, Phosphotransferases (Alcohol Group Acceptor), Neuroaxonal Dystrophies, Neurodegenerative Diseases
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