Anticipation in hereditary dentatorubral-pallidoluysian atrophy (original) (raw)

Abstract

Anticipation refers to the progressively earlier onset and increase in disease severity in successive generations. We studied four families with hereditary dentatorubral-pallidoluysian atrophy (DRPLA), a neurodegenerative disease, and anticipation was present in the mode of inheritance. In subsequent generations DRPLA shows an earlier onset and more severe as well as additional symptoms. Older onset patients suffer from cerebellar ataxia with or without dementia, whereas younger onset patients present as progressive myoclonus epilepsy syndrome, which consists of mental retardation, dementia, and cerebellar ataxia as well as epilepsy and myoclonus. Anticipation with paternal transmission was significantly greater than with maternal transmission.

Access this article

Log in via an institution

Subscribe and save

• Get 10 units per month
• Download Article/Chapter or eBook
• 1 Unit = 1 Article or 1 Chapter
• Cancel anytime Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

• Akashi T, Ando Y, Inose T, Uemura H, and Mizushima S (1987) Dentato-rubro-pallido-luysian atrophy: a clinico-neuropathological study (in Japanese). Jpn J Clin Psychiat 16:1163–1172.
  Google Scholar
• Fu YH, Kühl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fanwick RGJr, Warren ST, Oostra BA, Nelson DL, Caskey CT (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047–1058.
  Google Scholar
• Howeler CJ, Busch HFM, Geraedts JPM, Niermeijer MF, Staal A (1989) Anticipation in myotonic dystrophy: fact or fiction? Brain 112:779–797.
  Google Scholar
• Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971–983.
  Article PubMed Google Scholar
• Iizuka R, Hirayama K (1991) Dentato-rubro-pallido-luysian atrophy. In: Jong JMBV de (ed) Handbook of clinical neurology, vol. 16. Elsevier, Amsterdam, pp607–618.
  Google Scholar
• Kondo I, Ohta H, Yazaki M, Ikeda J-E, Gusella JF, Kanazawa I (1990) Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. J Med Genet 27:105–108.
  Google Scholar
• La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fishbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77–79.
  Google Scholar
• Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Neville C, Narang M, Sarcolo J, O'Hoy K, Leblond S, Earle-MacDonald J, De Jong PJ, Wiuringa B, Komoluk G (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 225:1253–1255.
  Google Scholar
• Miyashita K, Inuzuka T, Ishikawa A, Kondo H, Kawakami A, Takeda S, Ikuta F, Yuasa T (1992) Hereditary dentatorubropallidoluysian atrophy: clinical variants in a family and degeneration of cerebral white matter in a proband (in Japanese). Brain Nerve 44:279–284.
  Google Scholar
• Naito H, Oyanagi S (1982) Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology 32:798–807.
  PubMed Google Scholar
• Naito H, Ohama E, Nagai H, Wakabayashi M, Morita M, Ikuta F (1987) A family of dentatorubral-pallidoluysian atrophy (DRPLA) including two cases with schizophrenic symptoms (in Japanese). Psychiatr Neurolog Jpn 89:144–158.
  Google Scholar
• Naito H (1990) Progressive myoclonus epilepsies and DRPLA (in Japanese, abstract in English). Adv Neurol Sci 34:56–67.
  Google Scholar
• Orr HT, Chung M-Y, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4:221–226.
  Google Scholar
• Ridley RM, Frith CD, Farrer LA, Conneally PM (1991) Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting. J Med Genet 28:224–231.
  Google Scholar
• Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, Parington NW, Sutherland GR, Turner G, Watson M (1985) Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 69:3289–3299.
  Google Scholar
• Smith JK (1975) Dentatorubropallidoluysian atrophy. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol. 21. Elsevier, Amsterdam, pp 519–534.
  Google Scholar
• Takahashi H, Ohama E, Naito H, Takeda S, Nakashima S, Makifuchi T, Ikuta F (1988) Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. Neurology 38:1065–1070.
  Google Scholar
• Takahata N, Ito K, Yoshimura Y, Nishihori K, Suzuki H (1978) Familial chorea and myoclonus epilepsy. Neurology 28:913–919.
  Google Scholar
• Zoghbi HY, Pollack MS, Lyons LA, Ferrell RE, Daiget SP, Beaudet AL (1988) Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann Neurol 23:580–584.
  Google Scholar

Download references

Author information

Author notes

1. Osamu Komure
   Present address: Department of Psychiatry and Neurology, Kobe University School of Medicine, Kusunoki-cho, Chuo-ku, 650, Kobe, Japan
2. Jun Kawai
   Present address: Department of Pathology, Kinki University School of Medicine, Sayama, 377-2, Osaka, Japan

Authors and Affiliations

1. Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Onsen-gun, 791-02, Ehime, Japan
   Akira Sano, Noriko Yamauchi & Yasuo Kakimoto
2. Department of Hygiene, Ehime, University School of Medicine, Shigenobu, Onsen-gun, 791-02, Ehime, Japan
   Ikuko Kondo
3. Department of Neurology, Utano National Hospital, Narutaki, Ukyo-ku, 616, Kyoto, Japan
   Osamu Komure
4. Department of Pathology, Shiga University of Medical Science, Ohtsu, 520-21, Shiga, Japan
   Jun Kawai & Fumitada Hazama
5. Department of Pediatrics, Ehime National Hospital, Shigenobu, Onsen-gun, 791-02, Ehime, Japan
   Kazuyo Kuzume & Nozomi Sano

Authors

1. Akira Sano
   You can also search for this author inPubMed Google Scholar
2. Noriko Yamauchi
   You can also search for this author inPubMed Google Scholar
3. Yasuo Kakimoto
   You can also search for this author inPubMed Google Scholar
4. Osamu Komure
   You can also search for this author inPubMed Google Scholar
5. Jun Kawai
   You can also search for this author inPubMed Google Scholar
6. Fumitada Hazama
   You can also search for this author inPubMed Google Scholar
7. Kazuyo Kuzume
   You can also search for this author inPubMed Google Scholar
8. Nozomi Sano
   You can also search for this author inPubMed Google Scholar
9. Ikuko Kondo
   You can also search for this author inPubMed Google Scholar

Rights and permissions

About this article

Cite this article

Sano, A., Yamauchi, N., Kakimoto, Y. et al. Anticipation in hereditary dentatorubral-pallidoluysian atrophy.Hum Genet 93, 699–702 (1994). https://doi.org/10.1007/BF00201575

Download citation

• Received: 25 August 1993
• Revised: 27 December 1993
• Issue Date: June 1994
• DOI: https://doi.org/10.1007/BF00201575

Keywords