Spinocerebellar ataxia type 6 in relation to CAG repeat length

被引：7

作者：

Kaseda, Y

Kawakami, H

Matsuyama, Z

Kumagai, R

Toji, M

Komure, O

Nishimura, M

Izumi, Y

Udaka, F

Kameyama, M

Nishio, T

Sunohara, N

Kuroda, Y

Nakamura, S

机构：

[1] Hiroshima Univ, Sch Med, Dept Internal Med 3, Hiroshima 7348551, Japan

[2] Natl Utano Hosp, Dept Neurol, Kyoto, Japan

[3] Natl Utano Hosp, Clin Res Ctr, Kyoto, Japan

[4] Sumitomo Hosp, Dept Neurol, Osaka, Japan

[5] Natl Ctr Hosp, NCNP, Dept Neurol, Kodaira, Tokyo, Japan

[6] Saga Med Sch, Dept Neurol, Saga, Japan

来源：

ACTA NEUROLOGICA SCANDINAVICA | 1999年 / 99卷 / 04期

关键词：

spinocerebellar degeneration; spinocerebellar ataxia type 6; CAG repeat; nystagmus;

D O I：

10.1111/j.1600-0404.1999.tb07348.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective - The purpose of the present study was to assess the relationship between clinical characteristics of spinocerebellar ataxia type 6 (SCA6) and CAG repeat length. Materials and methods - We examined clinical symptoms of 54 patients with SCA6, CAG repeat length was compared among subgroups divided by clinical manifestations. Results - The major symptom was progressive cerebellar ataxia, Truncal or limb ataxia, dysarthria, and nystagmus were observed in more than 80% of the patients. In analysis of CAG repeat length in patients with different types of nystagmus, CAG repeat length was the longest when both upbeat and downbeat nystagmus existed (P < 0.01). In addition, CAG repeat length was longer when the initial symptom was ataxic gait and was shorter when the initial symptom was dysarthria or ocular symptom (P < 0.05). Conclusion Clinical features of SCA6 might be influenced by the length of abnormal CAG repeat.

引用

页码：209 / 212

页数：4

共 16 条

[1] Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion [J].

David, G ;

Abbas, N ;

Stevanin, G ;

Durr, A ;

Yvert, G ;

Cancel, G ;

Weber, C ;

Imbert, G ;

Saudou, F ;

Antoniou, E ;

Drabkin, H ;

Gemmill, R ;

Giunti, P ;

Benomar, A ;

Wood, N ;

Ruberg, M ;

Agid, Y ;

Mandel, JL ;

Brice, A .

NATURE GENETICS, 1997, 17 (01) :65-70

[2] Spinocerebellar ataxia type 6 - Frequency of the mutation and genotype-phenotype correlations [J].

Geschwind, DH ;

Perlman, S ;

Figueroa, KP ;

Karrim, J ;

Baloh, RW ;

Pulst, SM .

NEUROLOGY, 1997, 49 (05) :1247-1251

[3] Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset [J].

Gomez, CM ;

Thompson, RM ;

Gammack, JT ;

Perlman, SL ;

Dobyns, WB ;

Truwit, CL ;

Zee, DS ;

Clark, HB ;

Anderson, JH .

ANNALS OF NEUROLOGY, 1997, 42 (06) :933-950

[4] Spinocerebellar ataxia type 6:: CAG repeat expansion in α1A voltage-dependent calcium channel gene and clinical variations in Japanese population [J].

Ikeuchi, T ;

Takano, H ;

Koide, R ;

Horikawa, Y ;

Honma, Y ;

Onishi, Y ;

Igarashi, S ;

Tanaka, H ;

Nakao, N ;

Sahashi, K ;

Tsukagoshi, H ;

Inoue, K ;

Takahashi, H ;

Tsuji, S .

ANNALS OF NEUROLOGY, 1997, 42 (06) :879-884

[5] Degenerative ataxias: Genetics, pathogenesis and animal models [J].

Kakizuka, A .

CURRENT OPINION IN NEUROLOGY, 1997, 10 (04) :285-290

[6] MOLECULAR-FEATURES OF THE CAG REPEATS AND CLINICAL MANIFESTATION OF MACHADO-JOSEPH DISEASE [J].

MARUYAMA, H ;

NAKAMURA, S ;

MATSUYAMA, Z ;

SAKAI, T ;

DOYU, M ;

SOBUE, G ;

SETO, M ;

TSUJIHATA, M ;

OHI, T ;

NISHIO, T ;

SUNOHARA, N ;

TAKAHASHI, R ;

HAYASHI, M ;

NISHINO, I ;

OHTAKE, T ;

ODA, T ;

NISHIMURA, M ;

SAIDA, T ;

MATSUMOTO, H ;

BABA, M ;

KAWAGUCHI, Y ;

KAKIZUKA, A ;

KAWAKAMI, H .

HUMAN MOLECULAR GENETICS, 1995, 4 (05) :807-812

[7] CAG repeat length and disease duration in Machado-Joseph disease: A new clinical classification [J].

Maruyama, H ;

Kawakami, H ;

Kohriyama, T ;

Sakai, T ;

Doyu, M ;

Sobue, G ;

Seto, M ;

Tsujihata, M ;

Ohi, T ;

Nishio, T ;

Sunohara, N ;

Takahashi, R ;

Ohtake, T ;

Hayashi, M ;

Nishimura, M ;

Saida, T ;

Abe, K ;

Itoyama, Y ;

Matsumoto, H ;

Nakamura, S .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1997, 152 (02) :166-171

[8] Spinocerebellar ataxia type 6 - Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion [J].

Matsumura, R ;

Futamura, N ;

Fujimoto, Y ;

Yanagimoto, S ;

Horikawa, H ;

Suzumura, A ;

Takayanagi, T .

NEUROLOGY, 1997, 49 (05) :1238-1243

[9] Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6) [J].

Matsuyama, Z ;

Kawakami, H ;

Maruyama, H ;

Izumi, Y ;

Komure, O ;

Udaka, F ;

Kameyama, M ;

Nishio, T ;

Kuroda, Y ;

Nishimura, M ;

Nakamura, S .

HUMAN MOLECULAR GENETICS, 1997, 6 (08) :1283-1287

[10] Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6 [J].

Nagai, Y ;

Azuma, T ;

Funauchi, M ;

Fujita, M ;

Umi, M ;

Hirano, M ;

Matsubara, T ;

Ueno, S .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1998, 157 (01) :52-59

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