참고문헌
- Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994; 6: 9-13. https://doi.org/10.1038/ng0194-9
- Nagafuchi S,Yanagisawa H, Ohsaki E, Shirayama T, Tadokoro K, Inoue T, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide an chromosome 12p. Nat Genet 1994; 6: 14-8. https://doi.org/10.1038/ng0194-14
- Ikeuchi T, Koide R, Onodera O, Tanaka H, Oyake M, Takano H, et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 1995; 37: 769-75. https://doi.org/10.1002/ana.410370610
- Ikeuchi T, Onodera O, Oyake M, Koide R, Tanaka H, Tsuji S. Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin Cell Biol 1995; 6: 37-44. https://doi.org/10.1016/1043-4682(95)90013-6
- Engel J, Pedley TA. Epilepsy: a Comprehensive Textbook. Philadelphia: Lippincott-Raven Publishers, 1997; 2455-68.
- Bae YH, Yang DW, Im JH, Kim MO, Ichikawa Y, Goto J, et al. Dentatorubropallidoluysian atrophy in a korean family. J Korean Neurol Assoc 1997; 3: 686-90.
- Komure O, Sano A, Nishino N, Yamacuchi N, Ueno S, Kondoh K, et al. DNA analysis in hereditory dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 1995; 45: 143-9. https://doi.org/10.1212/WNL.45.1.143
- Koide R, Onodera O, Ikeuchi T, Kondo R, Tanaka H, Tomoda A, et al. Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy: Influence of CAG repeat size on MRI findings. Neurology 1997; 49: 1605-12. https://doi.org/10.1212/WNL.49.6.1605
- Yuasa T. Clinical spectrum of DRPLA. In: Tsuji S,Naito H, Oyanagi S. DRPLA: from clinical neurology to molecular medicine. Tokyo: Igakushoin, 1997; 67-79.
- Adachi N, Arima K, Asada T, Kato M, Minami N, Goto Yi, et al. Dentatorubral- pallidoluysian atrophy (DRPLA) presenting with psychosis. J Neuropsychiatry Clin Neurosci. 2001; 13: 258-60. https://doi.org/10.1176/appi.neuropsych.13.2.258
- Uyama E, Kondo I, Uchino M, Fukoshima T, Murayama N, Kuwano A, et al. Dentatorubralpallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family. J Neurol Sci 1995; 130: 146-53. https://doi.org/10.1016/0022-510X(95)00019-X
- Munoz E, Campdelacreu J, Ferrer I, Rey MJ, Cardozo A, Gomez B, et al. Severe cerebral white matter involvement in a case of entatorubropallidoluysian atrophy studied at autopsy. Arch Neurol 2004; 61: 946-9. https://doi.org/10.1001/archneur.61.6.946
- Yazawa I, Nukina N, Hashida H, Goto J, Yamada M, Kanazawa I. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nature Genet 1995; 10: 99-103. https://doi.org/10.1038/ng0595-99
- Ito D, Yamada M, Kawai M, Usui T, Hamada J, Fukuuchi Y. Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy. Arch Neurol 2002; 59: 289-91. https://doi.org/10.1001/archneur.59.2.289
- Ihara Y, Namba R, Nobukuni K, Wawai K, Kuroda S. Relation between cerebral white matter damage on CT and MRI and clinical data in DRPLA (pseudo-Huntington form). Clin Neurol 1991; 31: 815-20.