Literature DB >> 7868125

Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.

A Nørremølle1, J E Nielsen, S A Sørensen, L Hasholt.   

Abstract

Dentato-rubro-pallido-luysian atrophy (DR-PLA) is considered to be rare in Europe. We describe a Danish family in which affected individuals in at least three generations have been diagnosed as suffering from Huntington's disease. Because analysis of the Huntingtin gene revealed normal alleles and various of the patients had seizures, we analysed the B37 gene and found significantly elongated CAG repeats as have been reported in DRPLA. Affected individuals with almost identical repeat lengths presented very different symptoms. Both expansion and contraction in paternal transmission was encountered.

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Year:  1995        PMID： 7868125     DOI： 10.1007/bf00225200

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  16 in total

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3.  A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

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Authors:  T T Warner; L Williams; A E Harding
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5.  Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy.

Authors:  H Naito; S Oyanagi
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6.  The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease.

Authors:  S E Andrew; Y P Goldberg; B Kremer; H Telenius; J Theilmann; S Adam; E Starr; F Squitieri; B Lin; M A Kalchman
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

7.  Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.

Authors:  R G Snell; J C MacMillan; J P Cheadle; I Fenton; L P Lazarou; P Davies; M E MacDonald; J F Gusella; P S Harper; D J Shaw
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

8.  Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).

Authors:  R Koide; T Ikeuchi; O Onodera; H Tanaka; S Igarashi; K Endo; H Takahashi; R Kondo; A Ishikawa; T Hayashi
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330

9.  Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.

Authors:  S Nagafuchi; H Yanagisawa; K Sato; T Shirayama; E Ohsaki; M Bundo; T Takeda; K Tadokoro; I Kondo; N Murayama
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330

10.  Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families.

Authors:  A Nørremølle; O Riess; J T Epplen; K Fenger; L Hasholt; S A Sørensen
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150
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4.  Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy.

Authors:  M Connarty; N R Dennis; C Patch; J N Macpherson; J F Harvey
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Review 5.  Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.

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6.  DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.

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  7 in total

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