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A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene

11 Jan 2019

Abstract excerpt

Abstract 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 (ENTPD1). Although they share common characteristics, affected individuals show slight discrepancies in...

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PMID: 30652007
DOI: 10.1038/s41439-018-0036-4

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