autosomal recessive spinocerebellar ataxia 14

An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homoz

An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13.

Signs and symptoms

• Hypometric saccades
• Delayed speech and language development
• Dysmetria
• Global developmental delay
• Dysdiadochokinesis
• Motor delay
• Nystagmus
• Jerky ocular pursuit movements
• Unsteady gait
• Cerebellar atrophy

Also known as: SCAR14