Hereditary spastic paraplegia 64
Hereditary spastic paraplegia 64
Definition
An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.
Also known as autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1, autosomal recessive spastic paraplegia type 64, ENTPD1 autosomal recessive complex spastic paraplegia, hereditary spastic paraplegia type 64, SPG64 — per MONDO