behavior/neurological
• mice began showing tremors and trembling gait at 6 months of age with incomplete penetrance
• observed in 50% of mice around 10 months of age
• observed in 100% of mice around 13 months of age
|
muscle
• progressive hypotonicity of hindlimbs
• more severe than in the forelimbs
|
nervous system
• age-dependent loss of Purkinje cells
• ~40% loss in vermis I-VIII at 30 weeks
• ~80% loss in vermis I-VIII at 63 weeks
• normal granular layer, indicating Purkinje cell loss was not secondary to granular layer abnormalities
|
• putatively due to the loss of the dendritic structures of Purkinje cells
|