/hereditary spastic paraplegia 64

hereditary spastic paraplegia 64

Rare Disease

MONDO:0014303

Also Known As

ENTPD1 autosomal recessive complex spastic paraplegiaSPG64autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1autosomal recessive spastic paraplegia 64autosomal recessive spastic paraplegia type 64hereditary spastic paraplegia type 64spastic paraplegia 64, autosomal recessive

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.