C177252Level 9
Autosomal Recessive Spastic Ataxia-2
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive condition caused by mutation(s) in the KIF1C gene, encoding kinesin-like protein KIF1C. It is characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs.
**Synonyms:** - Autosomal Spastic Paraplegia Type 58 - SPAX2 - SPG58
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