References
- Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, et al. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology. 2008;71(4):248–52. DOI: 10.1212/01.wnl.0000319610.29522.8a
- Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H. The human FA2H gene encodes a fatty acid 2-hydroxylase. J Biol Chem. 2004;279(47):48562–8. DOI: 10.1074/jbc.M406649200
- Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol. 2010;68(5):611–8. DOI: 10.1002/ana.22122
- Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, et al. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat. 2010;31(4):E1251–60. DOI: 10.1002/humu.21205
- Levi S, Tiranti V. Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition. Pharmaceuticals (Basel). 2019;12(1). DOI: 10.3390/ph12010027
- Incecik F, Besen S, Bozdogan ST. Hereditary Spastic Paraplegia Type 35 with a Novel Mutation in Fatty Acid 2-Hydroxylase Gene and Literature Review of the Clinical Features. Ann Indian Acad Neurol. 2018;21(4):335–9. DOI: 10.4103/aian.AIAN_106_18
- Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, et al. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008;83(5):643–8. DOI: 10.1016/j.ajhg.2008.10.010
- Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, et al. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Brain. 2019;142(6):1561–72. DOI: 10.1093/brain/awz102
- Eckhardt M, Yaghootfam A, Fewou SN, Zöller I, Gieselmann V. A mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin. Biochem J. 2005;388(Pt 1):245–54. DOI: 10.1042/BJ20041451
- Mandik F, Kanana Y, Rody J, Misera S, Wilken B, Laabs von Holt BH, et al. A new model for fatty acid hydroxylase-associated neurodegeneration reveals mitochondrial and autophagy abnormalities. Front Cell Dev Biol. 2022;10:
1000553 . DOI: 10.3389/fcell.2022.1000553 - Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traoré M, et al. Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. Am J Hum Genet. 2018;102(2):266–77. DOI: 10.1016/j.ajhg.2018.01.003
- Mo L, Tie X, Che F, Zhang L, Li B, Wang G, et al. A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients. Pediatr Neurol. 2024;152:200–8. DOI: 10.1016/j.pediatrneurol.2023.12.031
- Zöller I, Meixner M, Hartmann D, Büssow H, Meyer R, Gieselmann V, et al. Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration. J Neurosci. 2008;28(39):9741–54. DOI: 10.1523/JNEUROSCI.0458-08.2008
- Uhrova Meszarosova A, Safka Brozkova D, Vyhnalek M, Mazanec R, Lastuvkova J, Trkova M, et al. Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient. J Clin Neurosci. 2019;59:337–9. DOI: 10.1016/j.jocn.2018.10.094
- Pedroso JL, Handfas BW, Abrahão A, Kok F, Barsottini OG, Oliveira AS. Fatty acid 2-hydroxylase deficiency: clinical features and brain iron accumulation. Neurology. 2015;84(9):960–1. DOI: 10.1212/WNL.0000000000001316
- Araújo Salomão RP, Rezende Filho FM, Borges V, Kurian MA, Ferraz HB, Breedveld GJ, et al. Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation. Parkinsonism Relat Disord. 2024;123:
106103 . DOI: 10.1016/j.parkreldis.2024.106103 - Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, et al. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. Brain. 2014;137(Pt 7):1907–20. DOI: 10.1093/brain/awu121
- Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol. 2012;33(3):407–14. DOI: 10.3174/ajnr.A2677
- Sait H, Srivastava S, Pandey M, Ravichandran D, Shukla A, Mandal K, et al. Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families. Neurogenetics. 2023;24(2):113–27. DOI: 10.1007/s10048-023-00712-0
- Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, et al. Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016;87(2):186–91. DOI: 10.1212/WNL.0000000000002843
- Zhu G, Koszelak-Rosenblum M, Connelly SM, Dumont ME, Malkowski MG. The Crystal Structure of an Integral Membrane Fatty Acid α-Hydroxylase. J Biol Chem. 2015;290(50):29820–33. DOI: 10.1074/jbc.M115.680124