Mouse Models of Spinocerebellar Ataxia Type 3 (Machado-Joseph Disease)

被引:28
作者
Colomer Gould, Veronica F. [1 ]
机构
[1] Inst Politecn Nacl, Ctr Invest & Estudios Avanzados, Dept Fisiol Biofis & Neurociencias, Mexico City 07360, DF, Mexico
关键词
Mouse; transgenic; Machado-Joseph; spinocerebellar ataxia type 3; SCA3; MJD; TRANSGENIC MICE; MUTANT ATAXIN-3; INTRANUCLEAR INCLUSIONS; AZOREAN DISEASE; EXPANDED POLYGLUTAMINE; CEREBELLAR-ATAXIA; PORTUGUESE FAMILY; CLEAVAGE FRAGMENT; GENETIC DISORDER; CELL-DEATH;
D O I
10.1007/s13311-012-0117-x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Machado-Joseph disease, also called spinocerebellar ataxia type 3 (MJD/SCA3), is a hereditary and neurodegenerative movement disorder caused by ataxin-3 with a pathological polyglutamine stretch (mutant ataxin-3). Seven transgenic mouse models expressing full-length human mutant ataxin-3 throughout the brain have been generated and are compared in this review. They vary in the corresponding transgenic DNA constructs with differences that include the encoded human ataxin-3 isoform(s), number of polyglutamine(s), and the promoter driving transgene expression. The behaviors/signs evaluated in most models are body weight, balance/coordination, locomotor activity, gait, limb position, and age at death. The pathology analyzed includes presence of neuronal intranuclear inclusions, and qualitative evidence of neurodegeneration. On the basis of striking similarities in age-range of detection and number of behavior/sign abnormalities and pathology, all but 1 mouse model could be readily sorted into groups with high, intermediate, and low severity of phenotype. Stereological analysis of neurodegeneration was performed in the same brain regions in 2 mouse models; the corresponding results are consistent with the classification of the mouse models.
引用
收藏
页码:285 / 296
页数:12
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