/hereditary spastic paraplegia 18

hereditary spastic paraplegia 18

Rare Disease

MONDO:0012639

Also Known As

ERLIN2 autosomal recessive complex spastic paraplegiaSPG18autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2autosomal recessive spastic paraplegia 18autosomal recessive spastic paraplegia type 18hereditary spastic paraplegia type 18intellectual disability, motor dysfunction and joint contracturesintellectual disability, motor dysfunction, and Joint contracturesspastic paraplegia 18spastic paraplegia 18, autosomal recessive

Definition

A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.