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TOR1A genetic mutation presenting as infantile onset chorea: A new phenotype of torsin family gene mutation

Author:

Dr. Thomas Mathew, Dr. Meghana Srinivas, Dr. Amrutha Avati, Dr. Arun HShastry, Ms. Manjusha, T. and Dr. Hansashree Padmanabha

Subject Area:

Health Sciences

Abstract:

The mutations in TOR1A or DYT1 genes are commonly known to be associated with primary dystonia in childhood and rarely with benign essential blepharospasm and head tremors.1 However, the association of TOR1A gene mutation with chorea has never been described in the literature. Here we describe a 5-year old boy with an infantile onset generalized chorea, with normal cognition, whose genetic analysis revealed a known pathogenic mutation in the TOR1A gene (c.646G>T). Thus, we report a novel association of TOR1A gene (c.646G>T) mutation with infantile onset chorea and expand the phenotypic manifestations of the same.

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