cerebellar ataxia type 42

An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromos

An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21.

Signs and symptoms

• Ataxia
• Dysarthria
• Unsteady gait
• Depression
• Diplopia
• Spastic ataxia
• Cerebellar atrophy
• Cognitive impairment
• Loss of Purkinje cells in the cerebellar vermis
• Abnormal pyramidal sign

Also known as: SCA42