A case of spinocerebellar ataxia type 6 mimicking olivopontocerebellar atrophy

被引：11

作者：

Nakagawa, N ^{[1
]}

Katayama, T ^{[1
]}

Makita, Y ^{[1
]}

Kuroda, K ^{[1
]}

Aizawa, H ^{[1
]}

Kikuchi, K ^{[1
]}

机构：

[1] Asahikawa Med Coll, Dept Internal Med 1, Asahikawa, Hokkaido 078, Japan

来源：

NEURORADIOLOGY | 1999年 / 41卷 / 07期

关键词：

spinocerebellar ataxia type 6 olivopontocerebellar atrophy; magnetic resonance imaging;

D O I：

10.1007/s002340050791

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant, slowly progressive cerebellar ataxia without multisystem involvement. We report a 57-year-old woman with genetically confirmed SCA6 who showed clinical features of olivopontocerebellar atrophy. Conventional T2-weighted and FLAIR MRI demonstrated high signal in the middle cerebellar peduncles, in addition to mild atrophy of the pens and cerebellum.

引用

页码：501 / 503

页数：3

共 6 条

[1] 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

[2] 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

[3]

RIVA A, 1995, J NEURORADIOLOGY, V22, P71

[4] Spinocerebellar ataxia type 6:: genotype and phenotype in German kindreds [J].

Schöls, L ;

Krüger, R ;

Amoiridis, G ;

Przuntek, H ;

Epplen, JT ;

Riess, O .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1998, 64 (01) :67-73

[5] Clinical and molecular features of spinocerebellar ataxia type 6 [J].

Stevanin, G ;

Durr, A ;

David, G ;

Didierjean, O ;

Cancel, G ;

Rivaud, S ;

Tourbah, A ;

Warter, JM ;

Agid, Y ;

Brice, A .

NEUROLOGY, 1997, 49 (05) :1243-1246

[6] Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha(1A)-voltage-dependent calcium channel [J].

Zhuchenko, O ;

Bailey, J ;

Bonnen, P ;

Ashizawa, T ;

Stockton, DW ;

Amos, C ;

Dobyns, WB ;

Subramony, SH ;

Zoghbi, HY ;

Lee, CC .

NATURE GENETICS, 1997, 15 (01) :62-69

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