A family of dentatorubral-pallidoluysian atrophy: clinical and neuroradiologic studies

We described a family of dentatorubral-pallidoluysian atrophy (DRPLA). The mother presented with cerebellar ataxia at 35 years of age and thereafter her neurological symptoms became exacerbated. Her daughter had mental retardation during the preschool period and epilepsy at 10 years. Her son present...

Full description

Saved in:
Bibliographic Details
Published inNo to hattatsu Vol. 29; no. 4; p. 298
Main Authors Fujii, K, Takanashi, J, Saito, Y, Tamai, K, Kondo, I, Sugita, K, Niimi, H
Format Journal Article
LanguageJapanese
Published Japan 01.07.1997
Subjects
Adolescent
Adult
Cerebellar Ataxia - genetics
Epilepsy - genetics
Female
Humans
Intellectual Disability - genetics
Magnetic Resonance Imaging
Male
Myoclonus - genetics
Red Nucleus - pathology
Trinucleotide Repeats
Online AccessGet more information
ISSN0029-0831
DOI10.11251/ojjscn1969.29.298

Cover

More Information
Summary:We described a family of dentatorubral-pallidoluysian atrophy (DRPLA). The mother presented with cerebellar ataxia at 35 years of age and thereafter her neurological symptoms became exacerbated. Her daughter had mental retardation during the preschool period and epilepsy at 10 years. Her son presented with epilepsy at 14 years. Their clinical phenotypes demonstrated maternal anticipation in this family. Genetical analysis of their DNA revealed CAG repeat expansion of the DRPLA gene, the number of which was 51 (mother), 65 (her daughter), and 53 (her son). MR imaging showed disappearance of T, shortening of the red nucleus in the mother and her daughter in contrast to the normal appearance in her son. MR imaging was effective in evaluating neuropathological changes in the DRPLA patients.
ISSN:0029-0831
DOI:10.11251/ojjscn1969.29.298