참고문헌
- Segawa M. Childhood basal ganglia disease with remarkable response to L-dopa, hereditary basal ganglia disease with marked diurnal fluctuation. Shinryo (Tokyo) 1971;24:667-72.
- Phukan J, Albanese A, Gasser T, Warner T. Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Lancet Neurol 2011;10:1074-85. https://doi.org/10.1016/S1474-4422(11)70232-0
- Segawa M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J 2009;32:1-11.
- Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain 2009;132(Pt 7):1753-63. https://doi.org/10.1093/brain/awp084
- Tassin J, Durr A, Bonnet AM, Gil R, Vidailhet M, Lucking CB, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain 2000;123(Pt 6):1112-21. https://doi.org/10.1093/brain/123.6.1112
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24. https://doi.org/10.1038/gim.2015.30
- Lee WW, Jeon BS. Clinical spectrum of dopa-responsive dystonia and related disorders. Curr Neurol Neurosci Rep 2014;14:461. https://doi.org/10.1007/s11910-014-0461-9
- Sunga MA, Rosales RL. Mental dysfunctions in dystonia-plus syndromes. J Parkinsons Dis 2014;4:161-7. https://doi.org/10.3233/JPD-130283
- Tsirikos AI, Carr LJ, Noordeen HH. Variability of clinical expression and evolution of spinal deformity in a family with late detection of doparesponsive dystonia. Dev Med Child Neurol 2004;46:128-37. https://doi.org/10.1111/j.1469-8749.2004.tb00462.x
- Lopez-Laso E, Sanchez-Raya A, Moriana JA, Martinez-Gual E, Camino-Leon R, Mateos-Gonzalez ME, et al. Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease. J Neurol 2011;258:2155-62. https://doi.org/10.1007/s00415-011-6079-9
- Van Hove JL, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, et al. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry 2006;77:18-23. https://doi.org/10.1136/jnnp.2004.051664
- Hahn H, Trant MR, Brownstein MJ, Harper RA, Milstien S, Butler IJ. Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene. Arch Neurol 2001;58:749-55. https://doi.org/10.1001/archneur.58.5.749
- Furukawa Y, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, et al. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Ann Neurol 1998;44:10-6. https://doi.org/10.1002/ana.410440107
- Kim R, Jeon B, Lee WW. A systematic review of treatment outcome in patients with dopa-responsive dystonia (DRD) and DRD-plus. Mov Disord Clin Pract 2016;3:435-42. https://doi.org/10.1002/mdc3.12361
- Sadahiro R, Suzuki A, Matsumoto Y, Shibuya N, Enokido M, Kamata M, et al. Functional polymorphism of the GTP cyclohydrolase 1 gene affects the personality trait of novelty seeking in healthy subjects. Neurosci Lett 2011;503:220-3. https://doi.org/10.1016/j.neulet.2011.08.040
- Bhandutia AK, Nangunoori R, Whiting DM, Sangimino MJ. Scoliosis secondary to dystonia: a case report and review of the literature. JBJS Case Connect 2017;7:e47. https://doi.org/10.2106/JBJS.CC.16.00193