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References

These sources were used to develop the Genetics Home Reference condition summary on fatty acid hydroxylase-associated neurodegeneration.

Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205. PubMed citation
Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010. PubMed citation
Gene Review: Fatty Acid Hydroxylase-Associated Neurodegeneration
Gregory A, Hayflick SJ. Genetics of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep. 2011 Jun;11(3):254-61. doi: 10.1007/s11910-011-0181-3. Review. PubMed citation
Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol. 2010 Nov;68(5):611-8. doi: 10.1002/ana.22122. PubMed citation
Schipper HM. Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging. Biochim Biophys Acta. 2012 Mar;1822(3):350-60. doi: 10.1016/j.bbadis.2011.06.016. Epub 2011 Jul 13. Review. PubMed citation
Schneider SA, Bhatia KP. Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias. Ann Neurol. 2010 Nov;68(5):575-7. doi: 10.1002/ana.22211. Erratum in: Ann Neurol. 2011 Jul;70(1):187. PubMed citation


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