/hereditary spastic paraplegia 63

hereditary spastic paraplegia 63

Rare Disease

MONDO:0014305

Also Known As

AMPD2 autosomal recessive complex spastic paraplegiaSPG63autosomal recessive complex spastic paraplegia caused by mutation in AMPD2autosomal recessive spastic paraplegia 63hereditary spastic paraplegia type 63spastic paraplegia 63autosomal recessive spastic paraplegia type 63spastic paraplegia 63, autosomal recessive

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.