Coexistence of expanded CAG repeats in the MJD1a and
            <i>DRPLA</i>
            genes

Kageyama, Takashi; Oeda, T.; Imura, Toshiaki; Kawamata, Jun; Suzuki, Shingo; H, Tomimoto; Shimohama, S

doi:10.1212/wnl.54.1.265-a

Cited by 2 publications

(2 citation statements)

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“…Only a few such cases have been reported, including a case of DM1 and progressive myoclonus epilepsy of Unverricht-Lundborg type with clinical findings and genetic abnormalities of both diseases, 20 and a case clinically resembling Machado-Joseph disease that had expanded CAG repeats both in the MJD1a and DRPLA genes. 12 To our knowledge, a patient with both SBMA and DM1 has not been described previously.…”

Section: Discussionmentioning

confidence: 99%

“…A case with similar disproportional expansions has been reported previously, 2 suggesting that extreme somatic instability of CTG repeats between leukocytes and various organs may occur in DM1. However, because cis-and trans-effects of a mutated gene can cause instability of another triplet repeat 21 and a gene dosage effect of the combined CAG repeat expansions might affect phenotype, 12 an interactive effect of the triplet repeat expansions may have increased the somatic instability of (CTG)n repeats in our case. Such a mechanism remains speculative.…”

Section: Discussionmentioning

confidence: 99%

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Association of spinal and bulbar muscular atrophy with myotonic dystrophy type 1

et al. 2004

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A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dystrophy type 1 (DM1). All of his three children (a son and two daughters) had the DM1 phenotype with long (CTG)n expansions. The daughters also had heterozygous long (CAG)n expansions. Postmortem examination of the patient revealed the characteristic pathological changes of SBMA as well as muscle degeneration compatible with DM1. Gene analysis of the organs disclosed unstable long expansions of the (CTG)n repeats, in contrast to the stable (CAG)n expansions. We have assumed that SBMA and DM1 developed independently in our patient, but cannot exclude the possibility that interactive gene effects increased somatic instability.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%