Hereditary sensory neuropathy with spastic paraplegia

Definition:

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.

References:

[1]. A Bouhouche, et al. 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. J Med Genet. 2006 May;43(5):441-3. [Content Brief]

[2]. P K Thomas, et al. Autosomal recessive hereditary sensory neuropathy with spastic paraplegia. Brain. 1994 Aug;117 ( Pt 4):651-9. [Content Brief]

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