Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
Authors:
- T. IkeuchiTIT. Ikeuchi
- O. OnoderaOOO. Onodera
- H. TanakaHTH. Tanaka
- S. IgarashiSIS. Igarashi
- K. EndoKEK. Endo
- H. TakahashiHTH. Takahashi
- R. KondoRKR. Kondo
- A. IshikawaAIA. Ishikawa
- T. HayashiTHT. Hayashi
- M. SaitoMSM. Saito
- A. TomodaATA. Tomoda
- 1 January 1994
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 6 (1) , 9-13
Abstract
Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified unstable expansion of a CAG in a gene on chromosome 12 in all the 22 DRPLA patients examined. A good correlation between the size of the CAG repeat expansion and the ages of disease onset is found in this group. Patients with earlier onset tended to have a phenotype of progressive myoclonus epilepsy and larger expansions. We propose that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.Keywords
This publication has 26 references indexed in Scilit:
- Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's diseaseNature Genetics, 1993
- Novel Triplet Repeat Containing Genes in Human Brain: Cloning, Expression, and Length PolymorphismsGenomics, 1993
- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomesCell, 1993
- Human genes containing polymorphic trinucleotide repeatsNature Genetics, 1992
- Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophyNature, 1992
- Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family memberCell, 1992
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Progressive myoclonus epilepsy: Dentato-rubro-pallido-luysian atrophy (DRPLA) in childhoodBrain and Development, 1991
- Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus.Journal of Medical Genetics, 1990
- Dentato-rubro-pallido-luysian atrophy: a clinico-pathological study.Journal of Neurology, Neurosurgery & Psychiatry, 1984