Autosomal recessive spastic paraplegia type 64

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Autosomal recessive spastic paraplegia type 64

Synonyms: SPG64

Autosomal recessive spastic paraplegia type 64 is 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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