A new case of spastic paraplegia type 64 due to a missense mutation in the gene.

Spastic paraplegia type 64 (SPG64; OMIM 615683) is a complicated form of hereditary spastic paraplegia (HSP) recently identified in individuals diagnosed with suspected neurodegenerative disease. Affected patients carry homozygous mutations in the ectonucleoside triphosphate diphosphohydrolase 1 gene (). Although they share common characteristics, affected individuals show slight discrepancies in some clinical aspects.