SEARCH

SEARCH BY CITATION

REFERENCES

  • 1
    Kanazawa I. Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. Neurogenetics 1998; 2: 117.
  • 2
    Titica J, Van Bogaert L. Heredo-degenerative hemiballismus. Brain 1946; 69: 251263.
  • 3
    Smith JK, Gonda VE, Malamud N. Unusual form of cerebellar ataxia. Combined dentato-rubral and pallido-Luysian degeneration. Neurology 1958; 8: 205209.
  • 4
    Naito H, Izawa K, Kurosaki T et al. Progressive myoclonus epilepsy with Mendelian dominant heredity (in Japanese). Psychiatr Neurol Jpn 1972; 74: 871897.
  • 5
    Oyanagi S, Tanaka M, Naito H et al. A neuropathological study of 8 autopsy cases of degenerative type of myoclonus epilepsy – with special reference to latent combination of degeneration of the pallido-luysian system – (in Japanese). Shinkei Shinpo 1976; 20: 410424.
  • 6
    Naito H, Oyanagi S. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubro-pallidoluysian atrophy. Neurology 1982; 32: 798807.
  • 7
    Naito H. The clinical picture and classification of dentatorubral-pallidoluysian atrophy (DRPLA) (in Japanese). Shinkeinaika 1990; 32: 450456.
  • 8
    Koide R, Onodera O, Ikeuchi T et al. Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings. Neurology 1997; 49: 16051612.
  • 9
    Koide R, Ikeuchi T, Onodera O et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 1994; 6: 913.
  • 10
    Nagafuchi S, Yanagisawa H, Sato K et al. Expansion of an unstable CAG trinucleotide on chromosome 12p in dentatorubral and pallidoluysian atrophy. Nat Genet 1994; 6: 1418.
  • 11
    Takano T, Yamanouchi Y, Nagafuchi S et al. Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization. Genomics 1996; 32: 171172.
  • 12
    Nagafuchi S, Yanagisawa H, Ohsaki E et al. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat Genet 1994; 8: 177182.
  • 13
    Tsuji S. Dentatorubral-pallidoluysian atrophy (DRPLA): clinical features and molecular genetics. In: Delgado-EscuetaAV, WilsonWA, OlsenRW, PorterRJ, eds. Jasper's Basic Mechanisms of Epilepsy: Advances in Neurology, 3rd edn, Vol. 79. Philadelphia, PA: Lippincott Willliams & Wilkins, 1999; 399409.
  • 14
    Ikeuchi T, Koide R, Tanaka H et al. Dentatorubral-pallidoluysian atrophy (DRPLA): clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 1995; 37: 769775.
  • 15
    Davies SW, Turmaine M, Cozens BA et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 1997; 90: 537548.
  • 16
    Igarashi S, Koide R, Shimohata T et al. Suppression of aggregate formation and apoptosis by transglutaminase inhibitions in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet 1998; 18: 111117.
  • 17
    Yamada M, Tsuji S, Takahashi H. Pathology of CAG repeat diseases. Neuropathology 2000; 20: 319325.
  • 18
    Cummings CJ, Reinstein E, Sun Y et al. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron 1999; 24: 879892.
  • 19
    Klement IA, Skinner PJ, Kaytor MD et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 1998; 95: 4153.
  • 20
    Saudou F, Finkbeiner S, Devys D et al. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 1998; 95: 5566.
  • 21
    Hayashi Y, Kakita A, Yamada M et al. Hereditary dentatorubral-pallidoluysian atrophy: ubiquitinated filamentous inclusions in the cerebellar dentate nucleus neurons. Acta Neuropathol 1998; 95: 479482.
  • 22
    Yamada M, Wood JD, Shimohata T et al. Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy. Ann Neurol 2001; 49: 1423.
  • 23
    Yamada M, Piao Y-S, Toyoshima Y et al. Ubiquitinated filamentous inclusions in cerebellar dentate nucleus neurons in dentatorubral-pallidoluysian atrophy contain expanded polyglutamine stretches. Acta Neuropathol 2000; 99: 615618.
  • 24
    Sato T, Miura M, Yamada M et al. Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice. Hum Mol Genet 2009; 18: 723736.
  • 25
    Shao J, Diamond MI. Polyglutamine diseases: emerging concepts in pathogenesis and therapy. Hum Mol Genet 2007; 16: R115R123.