Objective: To estimate the frequency of HPCA mutations in Serbian cohort with dystonia.

Background: Recently the HPCA gene has been reported as the first putative recessive dystonia gene. The HPCA gene encodes hippocalcin, a neuronal calciumsensor protein found almost exclusively in the brain and at particularly high levels in the striatum, an area closely related with movement disorders. However, after this initial description no other studies were published independently confirming this finding.

Methods: We sequenced the coding region of the HPCA gene in 505 Serbian patients without apparently autosomal dominant inheritance pattern of isolated or combined dystonia.

Results: Apart from three polymorphisms detected in four patients, sequence analysis revealed no other variants in the coding or exon-neighboring intronic regions of HPCA.

Conclusions: Our data confirmed that mutations in HPCA might be an extremely rare cause of dystonia. Further studies in families with clear autosomal recessive inheritance of dystonia and in patients from populations with high rates of consanguinity are warranted in order to expand both genetic and clinical spectrum of this type of dystonia.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/dyt2-dystonia-too-rare-to-be-found/