A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

Abstract excerpt

Hereditary ataxias are a heterogeneous group of neurodegenerative disorders characterized by impaired balance and coordination, often due to cerebellar dysfunction. Despite advances in identifying genetic causes, animal models remain essential for dissecting underlying mechanisms and testing therapeutic strategies. Here we describe a mouse model of spastic ataxia and myopathy caused by a missense mutation in...

Topics

• Animals
• Disease Models, Animal
• Mice
• Male
• Spinocerebellar Ataxias
• Muscle Spasticity
• Muscular Diseases