DYT2 screening in early-onset isolated dystonia

Area of Science:

• Genetics
• Neurology
• Molecular Biology

Background:

• Mutations in the HPCA gene, involved in striatal calcium signaling, have been linked to recessive dystonia, previously classified as DYT2 dystonia.
• Previously identified patients with HPCA mutations presented with childhood-onset focal dystonia that generalized and progressed slowly into adulthood.

Purpose of the Study:

• To investigate the frequency of HPCA gene mutations in a cohort of Italian patients with early-onset isolated dystonia.
• To determine if HPCA mutations are a significant genetic cause of dystonia presenting before age 21.

Main Methods:

• A cohort of 73 patients with isolated dystonia manifesting before 21 years of age was recruited for the study.
• Sanger sequencing was employed to screen the HPCA gene for mutations in all enrolled patients.

Main Results:

• No patients in the study cohort were found to carry mutations in the HPCA gene.
• The mean age of onset for dystonia in the study group was 10.2 years, with a mean disease duration of 22.7 years at enrollment.

Conclusions:

• The absence of HPCA mutations in this cohort suggests it is likely a rare cause of childhood and adolescent-onset dystonia.
• Larger, multi-ethnic studies are necessary to accurately determine the prevalence of HPCA mutations in dystonia populations.