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Autosomal recessive spastic paraplegia type 32

ORPHA:171622· ICD-10 G11.4

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Childhood