hereditary spastic paraplegia 63

Disease Overview

An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.

Synonyms

• AMPD2 autosomal recessive complex spastic paraplegia
• SPG63
• autosomal recessive complex spastic paraplegia caused by mutation in AMPD2
• autosomal recessive spastic paraplegia 63
• autosomal recessive spastic paraplegia type 63
• hereditary spastic paraplegia type 63
• spastic paraplegia 63
• spastic paraplegia 63, autosomal recessiveAMPD2 autosomal recessive complex spastic paraplegia
• SPG63
• autosomal recessive complex spastic paraplegia caused by mutation in AMPD2
• autosomal recessive spastic paraplegia 63
• autosomal recessive spastic paraplegia type 63
• hereditary spastic paraplegia type 63
• spastic paraplegia 63
• spastic paraplegia 63, autosomal recessive