Hereditary spastic paraplegia 63
Hereditary spastic paraplegia 63
Definition
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.
Also known as AMPD2 autosomal recessive complex spastic paraplegia, autosomal recessive complex spastic paraplegia caused by mutation in AMPD2, hereditary spastic paraplegia type 63, SPG63 — per MONDO