Dementia and Neurocognitive Disorders (대한치매학회지)

Korean Dementia Association (대한치매학회)
권호 표지

Dentatorubropallidoluysian Atrophy Presenting Progressive Cognitive Dysfunction as an Initial Symptom

진행성 인지장애를 첫 증상으로 보인 치아적핵창백핵루이체위축증 1예

  • Park, Jong-Kyu (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital) ;
  • Ko, Ji-Ae (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital) ;
  • Park, Jeong-Ho (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital) ;
  • Lee, Tae-Kyeong (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital) ;
  • Sung, Ki-Bum (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital) ;
  • Park, Sun-Ah (Department of Neurology, College of Medicine, Soonchunhyang University Bucheon Hospital)
  • 박종규 (순천향대학교 부천병원 신경과학교실) ;
  • 고지애 (순천향대학교 부천병원 신경과학교실) ;
  • 박정호 (순천향대학교 부천병원 신경과학교실) ;
  • 이태경 (순천향대학교 부천병원 신경과학교실) ;
  • 성기범 (순천향대학교 부천병원 신경과학교실) ;
  • 박선아 (순천향대학교 부천병원 신경과학교실)
  • Published : 2010.06.30
⟨ Previous Next ⟩

Abstract

A 50-yr-old woman presented with progressive cognitive impairment and later developed abnormal movements. Brain magnetic resonance imaging (MRI) showed diffuse atrophy of the cerebellum and brainstem and severe high signal intensities in the periventricular white matter on T2-weighted images. The genetic analysis confirmed the diagnosis of dentatorubropallidoluysian atrophy (DRPLA). DRPLA should be considered in a patient with family history who showed cognitive impairment alone for a substantial period and severe white matter involvement with diffuse atrophy on MRI.

Keywords

References

  1. 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
  2. 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
  3. 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
  4. 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
  5. Engel J, Pedley TA. Epilepsy: a Comprehensive Textbook. Philadelphia: Lippincott-Raven Publishers, 1997; 2455-68.
  6. 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.
  7. 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
  8. 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
  9. 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.
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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.