Objective: To assess mutations in HPCA (DYT2) in a cohort of familial and sporadic Italian patients with early-onset dystonia.

Background: Mutations in Hippocalcin (HPCA) have been recently identified as the cause of early-onset isolated dystonia in recessive cases previously indicated as DYT2 or “DYT2-like” dystonia. No genetic screenings or additional HPCA mutations have been published after the original paper (Charlesworth G. et al., AJHG 2015) reporting the discovery of this isolated dystonia associated gene.

Methods: 109 dystonic patients (59 males, 50 females) from the Movement Disorders DNA Bank of the Carlo Besta Neurological Institute, Milan and from the CSS-Mendel Institute, Rome were selected on clinical grounds. All patients presented with early-onset (<35 years) isolated dystonia and 15 (13.7%) had a family history consistent with autosomal recessive inheritance. Mean age at the time of molecular analysis was 28.5 years. All three exons and flanking regions of the HPCA gene (ENST00000373467) were amplified and sequenced using the Big Dye Terminator chemistry and ABI PRISM 3130XL automated sequencer (Applied Biosystems). Primers’ sequences and conditions used are available on request ([email protected]).

Results: Molecular analysis failed to individuate pathogenic mutations in the HPCA gene in the present cohort, both in familial and sporadic cases.

Conclusions: HPCA mutations are a rare cause of isolated, early-onset dystonia. At present, no positive cases have been individuated in the Italian population. Further larger studies will be needed to assess the actual prevalence of HPCA mutations in patients with isolated dystonia.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/dyt2-screening-in-early-onset-isolated-dystonia-in-italy/