autosomal recessive spinocerebellar ataxia 7

An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1

An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15.

Signs and symptoms

• Scanning speech
• Dysmetria
• Cerebellar atrophy
• Ataxia
• Nystagmus
• Oculomotor apraxia
• Unsteady gait
• Truncal titubation
• Postural tremor
• Impaired vibratory sensation

Also known as: SCAR7