DOES HOMOZYGOSITY ADVANCE THE ONSET OF DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY

被引：49

作者：

SATO, K

KASHIHARA, K

OKADA, S

IKEUCHI, T

TSUJI, S

SHOMORI, T

MORIMOTO, K

HAYABARA, T

机构：

[1] OKAYAMA UNIV,DEPT NEUROL,OKAYAMA 700,JAPAN

[2] NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,NIIGATA 951,JAPAN

[3] KAGAWA MED SCH,DEPT NEUROPSYCHIAT,KAGAWA 76107,JAPAN

来源：

NEUROLOGY | 1995年 / 45卷 / 10期

关键词：

D O I：

10.1212/WNL.45.10.1934

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1934 / 1936

页数：3

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