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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Cerebellar ataxia
1Department of Rehabilitation, School of Health Professions, University of Plymouth, Plymouth, United Kingdom.
Abstract:
The cerebellum plays an integral role in the control of limb and ocular movements, balance, and walking. Cerebellar disorders may be classified as sporadic or hereditary with clinical presentation varying with the extent and site of cerebellar damage and extracerebellar signs. Deficits in balance and walking reflect the cerebellum's proposed role in coordination, sensory integration, coordinate transformation, motor learning, and adaptation. Cerebellar dysfunction results in increased postural sway, hypermetric postural responses to perturbations and optokinetic stimuli, and postural responses that are poorly coordinated with volitional movement. Gait variability is characteristic and may arise from a combination of balance impairments, interlimb incoordination, and incoordination between postural activity and leg movement. Intrinsic problems with balance lead to a high prevalence of injurious falls. Evidence for pharmacologic management is limited, although aminopyridines reduce attacks in episodic ataxias and may have a role in improving gait ataxia in other conditions. Intensive exercises targeting balance and coordination lead to improvements in balance and walking but require ongoing training to maintain/maximize any effects. Noninvasive brain stimulation of the cerebellum may become a useful adjunct to therapy in the future. Walking aids, orthoses, specialized footwear and seating may be required for more severe cases of cerebellar ataxia.
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