论文信息 - MR of childhood-onset dentatorubral-pallidoluysian atrophy.

MR of childhood-onset dentatorubral-pallidoluysian atrophy.

MR findings in a 14-year-old boy with progressive myoclonic epilepsy, who was diagnosed as having dentatorubral-pallidoluysian atrophy by DNA analysis, were compared with those of his father, who had adult-onset dentatorubral-pallidoluysian atrophy. Besides showing severe brain atrophy, especially of the brain stem tegmentum and cerebellum, MR showed diffuse periventricular hyperintensity on T2-weighted images. As compared with the proband, the father had a mild case.

[1] S. Kuroda,et al. [Relation between cerebral white matter damage on CT and MRI and clinical data in DRPLA (pseudo-Huntington form)]. , 1991, Rinshō shinkeigaku Clinical neurology.

[2] N. Malamud,et al. Unusual form of cerebellar ataxia , 1958, Neurology.

[3] T. Hashimoto,et al. Occipital deep white matter hyperintensity as seen by MRI: 1. clinical significance , 1992, Brain and Development.

[4] S. Oyanagi,et al. Familial myoclonus epilepsy and choreoathetosis , 1982, Neurology.

[5] S. Takeda,et al. Hereditary dentatorubral‐pallidoluysian atrophy , 1988, Neurology.

[6] I. Kanazawa,et al. Exclusion mapping of the hereditary dentatorubropallidoluysian atrophy gene from the Huntington's disease locus. , 1990, Journal of medical genetics.

[7] B. Kendall,et al. Disorders of lysosomes, peroxisomes, and mitochondria. , 1992, AJNR. American journal of neuroradiology.

[8] O. Onodera,et al. Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) , 1994, Nature Genetics.

[9] B. Drayer,et al. Imaging of the aging brain. Part I. Normal findings. , 1988, Radiology.

[10] A. Sano,et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p , 1994, Nature Genetics.