Author:
Shimohata T.,Ishiguro H.,Makino K.,Takano H.,Tanaka H.,Tsuji S.,Hirota K.
Abstract
We report siblings, a 21-year-old woman (proband) and her 26-year-old brother, with dentatorubral-pallidolysian atrophy (DRPLA). There was no family history of DRPLA and no clinical abnormalities in their parents, who were both above the age of 50. Analysis of the DRPLA gene of leukocytes showed CAG repeat sizes to be 64/17 in the proband, 58/20 in her brother, and 56/8 in their mother. Sporadic cases of DRPLA can occur with maternal as well as paternal transmission.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Cited by
6 articles.
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