Archives of neurology · 2002
Spinocerebellar ataxia in monozygotic twins.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАПоддержка службы здравоохранения СШАTwin StudyНазвание и аннотация: Перевод в очереди
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Anderson John H, Christova Peka S, Xie Ting-dong, Schott Kelly S, Ward Kenneth, Gomez Christopher M
Аннотация
CONTEXT: Although phenotypic heterogeneity in autosomal dominant spinocerebellar ataxia (SCA) has been explained in part by genotypic heterogeneity, clinical observations suggest the influence of additional factors.
OBJECTIVES: To demonstrate, quantitate, and localize physiologic abnormalities attributable to nongenetic factors in the development of hereditary SCA.
DESIGN: Quantitative assessments of ocular motor function and postural control in 2 sets of identical twins, one with SCA type 2 and the other with episodic ataxia type 2.
SETTING: University laboratory.
MAIN OUTCOME MEASURES: Saccadic velocity and amplitude, pursuit gain, and dynamic posturography.
RESULTS: We found significant differences in saccade velocity, saccade metrics, and postural stability between each monozygotic twin. The differences point to differential involvement between twins of discrete regions in the cerebellum and brainstem.
CONCLUSIONS: These results demonstrate the presence of quantitative differences in the severity, rate of progression, and regional central nervous system involvement in monozygotic twins with SCA that must be owing to the existence of nongermline or external factors.
OBJECTIVES: To demonstrate, quantitate, and localize physiologic abnormalities attributable to nongenetic factors in the development of hereditary SCA.
DESIGN: Quantitative assessments of ocular motor function and postural control in 2 sets of identical twins, one with SCA type 2 and the other with episodic ataxia type 2.
SETTING: University laboratory.
MAIN OUTCOME MEASURES: Saccadic velocity and amplitude, pursuit gain, and dynamic posturography.
RESULTS: We found significant differences in saccade velocity, saccade metrics, and postural stability between each monozygotic twin. The differences point to differential involvement between twins of discrete regions in the cerebellum and brainstem.
CONCLUSIONS: These results demonstrate the presence of quantitative differences in the severity, rate of progression, and regional central nervous system involvement in monozygotic twins with SCA that must be owing to the existence of nongermline or external factors.