Hereditary spastic paraplegia 32
Hereditary spastic paraplegia 32
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.
Also known as autosomal recessive spastic paraplegia type 32, hereditary spastic paraplegia type 32, SPG32 — per MONDO