Format

Send to

Choose Destination
See comment in PubMed Commons below
Neurology. 1995 Oct;45(10):1934-6.

Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?

Author information

  • 1Clinical Research Institute, National Sanatorium Minamiokayama Hospital, Okayama, Japan.

Abstract

We confirmed a homozygous type of relatively small expansion of CAG triplet repeats (57 repeats) in the short arm of chromosome 12 in a male patient with dentatorubral-pallidoluysian atrophy (DRPLA) by polymerase chain reaction. He showed early onset (age, 17 years) of DRPLA. There was good correlation of the age of onset with the number of triplet repeats. The homozygous state of the expansion of the triplet repeats was responsible for the early onset and severity of his DRPLA.

PMID:
7477999
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk