Last update 01 Nov 2024

Spastic Paraplegia 32, Autosomal Recessive

Basic Info

Synonyms
Autosomal recessive spastic paraplegia type 32, Autosomal recessive spastic paraplegia type 32 (diagnosis), Autosomal recessive spastic paraplegia type 32 (disorder)
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Introduction
A rare complex type of hereditary spastic paraplegia with characteristics of 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.

Analysis

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