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Abstract Details

A New Case Of Spastic Paraplegia Type 64 Due To A Missense Mutation In The ENTPD1 Gene
Neuromuscular and Clinical Neurophysiology (EMG)
P15 - Poster Session 15 (12:00 PM-1:00 PM)
1-007
To find more genetic variation to better understand the effect of mutations in the ENTPD1 gene on the neurological condition of affected individuals.
Spastic paraplegia type 64 is a complicated form of hereditary spastic paraplegia, recently identified in individuals diagnosed with suspected neurodegenerative disease. Affected patients carry homozygous mutations in the ectonucleoside triphosphate diphosphohydrolase 1 gene (ENTPD1).  At present, only two different cases of SPG64 have been diagnosed. More findings of genetic variation would be helpful to better understand the effect of mutations in the ENTPD1 gene on the neurological condition of affected individuals.
We examined a family with an individual diagnosed with suspected HSP based on clinical findings. DNA samples from the proband, her affected sister, and both parents were analyzed using NGS.  Variants were confirmed by Sanger sequencing.
The variant c.401T>G (p.M134R) in the ENTPD1 gene, for which both sisters were homozygous, was identified as a mutation responsible for a complicated form of HSP, autosomal-recessive spastic paraplegia type 64 (SPG64). This is the third case of mutations in the ENTPD1 gene linked to SPG64 to be reported in the literature.
Current knowledge has shown that early symptoms detected at onset as well as further clinical features and their severity may differ among individuals affected by this disease, even within the same family.  For all three cases of SPG64, final diagnoses have been made on the basis of results of DNA testing. This fact highlights the significance of genetic screening using very useful NGS technologies for the diagnosis of HSP and other similar genetic neurodegenerative diseases. SPG64 can be very invasive and greatly affect quality of life. To cautiously manage the risk of this disease, there is a need for DNA testing of family members to assist genetic counseling for better reproductive decision-making.
Authors/Disclosures
Alier Marrero, MD (Centre Hospitalier Universitaire Dr George L. Dumont)
PRESENTER 		Dr. Marrero has nothing to disclose.
No disclosure on file
Alier Marrero, MD (Centre Hospitalier Universitaire Dr George L. Dumont) Dr. Marrero has nothing to disclose.