Hereditary sensory neuropathy with spastic paraplegia is a very rare disease with both autosomal dominant and recessive modes of inheritance. The autosomal recessive form is characterised by progressive sensory neuropathy associated with a spastic paraplegia and a mutilating lower limb acropathy. It has been reported that mutations in CCT5 cause this disease. CCT5 gene encodes the epsilon subunit of the cytosolic chaperonin-containing t- complex peptide-1.
Bouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M
タイトル
Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.
