/hereditary spastic paraplegia 32

hereditary spastic paraplegia 32

Rare Disease

MONDO:0012643

Also Known As

SPG32autosomal recessive spastic paraplegia 32autosomal recessive spastic paraplegia type 32hereditary spastic paraplegia type 32spastic paraplegia 32spastic paraplegia 32, autosomal recessive

Definition

Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.