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J Med Genet. 1996 February; 33(2): 168–170.
PMCID: PMC1051847

The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing.

Abstract

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterised by variability in both age of onset and clinical features. Despite the recent identification of the CAG expansion mutation in DRPLA, the number of molecularly confirmed cases remains small. Given its rarity and prominent phenotypic heterogeneity, some care needs to be exercised in the interpretation and dissemination of test results derived from direct gene testing for the DRPLA specific expansion mutation.

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Selected References

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  • Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet. 1994 Jan;6(1):9–13. [PubMed]
  • Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 1994 Jan;6(1):14–18. [PubMed]
  • Warner TT, Williams L, Harding AE. DRPLA in Europe. Nat Genet. 1994 Mar;6(3):225–225. [PubMed]
  • Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, Pericak-Vance MA, Vance JM. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet. 1994 Aug;7(4):521–524. [PubMed]
  • Potter NT, Meyer MA, Zimmerman AW, Eisenstadt ML, Anderson IJ. Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy. Ann Neurol. 1995 Feb;37(2):273–277. [PubMed]
  • Nørremølle A, Nielsen JE, Sørensen SA, Hasholt L. Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy. Hum Genet. 1995 Mar;95(3):313–318. [PubMed]
  • Nagafuchi S, Yanagisawa H, Ohsaki E, Shirayama T, Tadokoro K, Inoue T, Yamada M. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nat Genet. 1994 Oct;8(2):177–182. [PubMed]
  • Komure O, Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, Sano N, Takahashi M, Murayama N, Kondo I, et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology. 1995 Jan;45(1):143–149. [PubMed]
  • Ikeuchi T, Koide R, Tanaka H, Onodera O, Igarashi S, Takahashi H, Kondo R, Ishikawa A, Tomoda A, Miike T, et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol. 1995 Jun;37(6):769–775. [PubMed]
  • Ueno S, Kondoh K, Kotani Y, Komure O, Kuno S, Kawai J, Hazama F, Sano A. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum Mol Genet. 1995 Apr;4(4):663–666. [PubMed]
  • Warner TT, Lennox GG, Janota I, Harding AE. Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom. Mov Disord. 1994 May;9(3):289–296. [PubMed]
  • Rubinsztein DC, Leggo J, Goodburn S, Barton DE, Ferguson-Smith MA, Ross CA, Li SH, Lofthouse R, Crow TJ, DeLisi LE. B37 repeats are normal in most schizophrenic patients. Br J Psychiatry. 1994 Jun;164(6):851–852. [PubMed]
  • Lesch KP, Stöber G, Balling U, Franzek E, Li SH, Ross CA, Newman M, Beckmann H, Riederer P. Triplet repeats in clinical subtypes of schizophrenia: variation at the DRPLA (B 37 CAG repeat) locus is not associated with periodic catatonia. J Neural Transm Gen Sect. 1994;98(2):153–157. [PubMed]
  • Warner TT, Williams LD, Walker RW, Flinter F, Robb SA, Bundey SE, Honavar M, Harding AE. A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families. Ann Neurol. 1995 Apr;37(4):452–459. [PubMed]

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