" /> Spastic ataxia 2, autosomal recessive - CISMeF





Preferred Label : Spastic ataxia 2, autosomal recessive;

Symbol : SPAX2;

CISMeF acronym : SPAX2;

Type : Phenotype, molecular basis known;

Description : Autosomal recessive spastic ataxia is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected (summary by Dor et al., 2013). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kinesin family member 1C gene (KIF1C, 603060.0001);

Prefixed ID : #611302;

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03/05/2025


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