A sporadic case of dentatorubral pallidoluysian atrophy (DRPLA) with CAG repeat expansion but no clinical abnormalities in the father

被引:7
作者
Shimizu, N [1 ]
Yamami, T [1 ]
Nakayama, M [1 ]
Ikeuchi, T [1 ]
Koide, R [1 ]
Tsuji, S [1 ]
机构
[1] NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,NIIGATA 951,JAPAN
关键词
D O I
10.1136/jnnp.61.1.113
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:113 / 114
页数:2
相关论文
共 9 条
[1]   DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY AND HAW-RIVER-SYNDROME [J].
BURKE, AR ;
IKEUCHI, T ;
KOIDE, R ;
TSUJI, S ;
YAMADA, M ;
PERICAKVANCE, MA ;
VANCE, JM .
LANCET, 1994, 344 (8938) :1711-1712
[2]   MOLECULAR ANALYSIS OF NEW MUTATIONS FOR HUNTINGTONS-DISEASE - INTERMEDIATE ALLELES AND SEX OF ORIGIN EFFECTS [J].
GOLDBERG, YP ;
KREMER, B ;
ANDREW, SE ;
THEILMANN, J ;
GRAHAM, RK ;
SQUITIERI, F ;
TELENIUS, H ;
ADAM, S ;
SAJOO, A ;
STARR, E ;
HEIBERG, A ;
WOLFF, G ;
HAYDEN, MR .
NATURE GENETICS, 1993, 5 (02) :174-179
[3]   DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY - CLINICAL-FEATURES ARE CLOSELY-RELATED TO UNSTABLE EXPANSIONS OF TRINUCLEOTIDE (CAG) REPEAT [J].
IKEUCHI, T ;
KOIDE, R ;
TANAKA, H ;
ONODERA, O ;
IGARASHI, S ;
TAKAHASHI, H ;
KONDO, R ;
ISHIKAWA, A ;
TOMODA, A ;
MIIKE, T ;
SATO, K ;
IHARA, Y ;
HAYABARA, T ;
ISA, F ;
TANABE, H ;
TOKIGUCHI, S ;
HAYASHI, M ;
SHIMIZU, N ;
IKUTA, F ;
NAITO, H ;
TSUJI, S .
ANNALS OF NEUROLOGY, 1995, 37 (06) :769-775
[4]   UNSTABLE EXPANSION OF CAG REPEAT IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) [J].
KOIDE, R ;
IKEUCHI, T ;
ONODERA, O ;
TANAKA, H ;
IGARASHI, S ;
ENDO, K ;
TAKAHASHI, H ;
KONDO, R ;
ISHIKAWA, A ;
HAYASHI, T ;
SAITO, M ;
TOMODA, A ;
MIIKE, T ;
NAITO, H ;
IKUTA, F ;
TSUJI, S .
NATURE GENETICS, 1994, 6 (01) :9-13
[5]   DNA ANALYSIS IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY - CORRELATION BETWEEN CAG REPEAT LENGTH AND PHENOTYPIC VARIATION AND THE MOLECULAR-BASIS OF ANTICIPATION [J].
KOMURE, O ;
SANO, A ;
NISHINO, N ;
YAMAUCHI, N ;
UENO, S ;
KONDOH, K ;
SANO, N ;
TAKAHASHI, M ;
MURAYAMA, N ;
KONDO, I ;
NAGAFUCHI, S ;
YAMADA, M ;
KANAZAWA, I .
NEUROLOGY, 1995, 45 (01) :143-149
[6]  
KONDO K, 1981, ANN REPORTS RES COMM, P222
[7]   DENTATORUBRAL AND PALLIDOLUYSIAN ATROPHY EXPANSION OF AN UNSTABLE CAG TRINUCLEOTIDE ON CHROMOSOME-12P [J].
NAGAFUCHI, S ;
YANAGISAWA, H ;
SATO, K ;
SHIRAYAMA, T ;
OHSAKI, E ;
BUNDO, M ;
TAKEDA, T ;
TADOKORO, K ;
KONDO, I ;
MURAYAMA, N ;
TANAKA, Y ;
KIKUSHIMA, H ;
UMINO, K ;
KUROSAWA, H ;
FURUKAWA, T ;
NIHEI, K ;
INOUE, T ;
SANO, A ;
KOMURE, O ;
TAKAHASHI, M ;
YOSHIZAWA, T ;
KANAZAWA, I ;
YAMADA, M .
NATURE GENETICS, 1994, 6 (01) :14-18
[8]   FAMILIAL MYOCLONUS EPILEPSY AND CHOREOATHETOSIS - HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY [J].
NAITO, H ;
OYANAGI, S .
NEUROLOGY, 1982, 32 (08) :798-807
[9]   HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY - CLINICAL AND PATHOLOGIC VARIANTS IN A FAMILY [J].
TAKAHASHI, H ;
OHAMA, E ;
NAITO, H ;
TAKEDA, S ;
NAKASHIMA, S ;
MAKIFUCHI, T ;
IKUTA, F .
NEUROLOGY, 1988, 38 (07) :1065-1070