spinocerebellar ataxia with axonal neuropathy 2

An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound het

An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal.

Signs and symptoms

• Peripheral axonal neuropathy
• Distal amyotrophy
• Cerebellar atrophy
• Distal muscle weakness
• Elevated circulating alpha-fetoprotein concentration
• Dysphagia
• Dysarthria
• Impaired proprioception
• Diminished deep tendon reflex
• Areflexia

Also known as: AOA2; SCAN2; SCAR1; ataxia with oculomotor apraxia type 2; autosomal recessive spinocerebellar ataxia 1