DISEASE: Hereditary sensory neuropathy with spastic paraplegia
Entry
H02580 Disease
Name
Hereditary sensory neuropathy with spastic paraplegia
Description
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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Disorders of nerve root, plexus or peripheral nerves
Hereditary neuropathy
8C21 Hereditary sensory or autonomic neuropathy
H02580 Hereditary sensory neuropathy with spastic paraplegia
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06510 Telomere length regulation
H02580 Hereditary sensory neuropathy with spastic paraplegia
Bouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M
Title
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.
