"2015-09-18T14:13:49Z"^^ . . "DOID:0050946"^^ . "GARD:4910"^^ . . "OMIM:270550"^^ . . "Charlevoix-Saguenay spastic ataxia"^^ . "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12."^^ . "lschriml"^^ . "MESH:C536787"^^ . "disease_ontology"^^ .