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Hereditary spastic paraplegia 63

rare

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.

Identifiers
MONDO:0014305 OMIM:615686Orphanet:401805
Causal genes
AMPD2
Part of
Complex hereditary spastic paraplegia
Also known as
AMPD2 autosomal recessive complex spastic paraplegia · autosomal recessive complex spastic paraplegia caused by mutation in AMPD2 · hereditary spastic paraplegia type 63 · spastic paraplegia 63, autosomal recessive · SPG63

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